10' conference internationale genome de la souris/67531/metadc710506/m2/1/high... ·...

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10 International Mouse Genome Conference

October 7401996

10 Conference Internationale sur le Genome de la Souris

7-10 octobre 1996

Iristitut Pasteur - Paris France

DISCLAIMER This report was prepared as an account of work sponsored by an agency of the United States Government Neither the United States Government nor any agency thereof nor any of their employees make any warranty exprrss or implied or assumes any legal liabili- ty or responsibility for the accuracy completeness or usefulness of any information appa- ratus product or process disdosed or represents that its use would not infringe privately owned rights Reference herein to any specific commercial product process or senice by trade name trademark manufacturer or otherwise does not necessarily constitute or imply its endorsement recommendation or favoring by the United States Government or any agency thereof The views and opinions of authors expressed herein do not necessarily state or reflect those of the United States Government or any agency thereof

DISCLAIMER

Portions of this document may be illegible in electronic image products Images are produced from the best available original document

Without the help and funds from ampe hstimt patem we would not be able to organize the IOthInternationd Mouse Genome Conference We want to specidy acknowledge the help and the very active assistance of B6nidicte fioutb We specid1y thank Isabelle Fleurmce a d Catherine Renard for the administrative part of the meeting Dominique Simon and Xavier Montagutelli have helped for writing the booklet

This meeting was supported by the amptitut National de la S a t 6 et de la Recherche M6dicale (INSERM)

In the United States this meeting was funded in part by the Office of HumanGenome Research of the National Institutes of Health and the US Department of Energy Office of Healtliampd Environment Research Support was also received from the International Mammalian Genome Society and the Journal Mammal Genome

I I

-1

Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y

P r e s i d e n t C h a i r Michael F Seldk Lmda D Siracusa Edward K Wakeland Berverly Mock Christine Kozak Rosemary Elliott Murray Brilliant J e B y Ceci Kenji Imai Benjamin Taylor Arthur Bwhberg Peter DEustachio Monica Justice Joseph Nadeau Konrad Huppi Roger Reeves ReIlataHamvas KemethR Johnson Jean-Louis Guinet Yvonne Boyd Colin E Bishop

Catherine M Abbott Michael seldin Fred T Fiedorck Jr Dennis A Stephenson Karen Moore Robert W W i

Margit Burmeister

Roy Riblet Dennis A Stephenson

Deborah Win Jiri Fotejt Muriel T Davisson

G a i l H m Michael Mitchell

Comampswn Internationale de Nomenclature G6n6tique de la Souris

International Commiftee on Stiznamprampd Genetic Nomenclature for Mice

Muriel T Davisson WsidentefC-s USA

CM Abbott England S Camper USA J-L Guknet France K Moore USA LM Silver USA

P R Avner France RW Elliott USA IJ Jackson Scotland K Moriwaki Japan C Szpjrer Belgium

SDM Brown England JT Eppig USA M J Justice J Peters England H Winking Germany

Commission HUGOhYUGO C o d e e

Philip R Avner Eva M Eicher David Kingsley Miriam Meisler

Philip R Avner Stephen DM Brown Mary F Lyon Kazuo Moriwaki

Yvonne Boyd Janan T Eppig HansLehrach Kazuo Moriwaki

Secritaria flecretarht

Stephen DM Brown J e m y Friedman Mary F Lyon TOampampampO shitokhi

RudiBalling Jean Louis Guknet

Joseph H N ~ W U Meisler

I

t-

2oo pJn 4Oo Nomenclature Cornmiaet 5oo 630

Chromosome Cornmiace Chairs and Co-Chairs

Registration at the Centre dlnformation Scientifique Welcome Party in the Main Lobby

Tuesday October 8 Morning S a w n

830 am 845 930

945

1ooo

1015

1045

11Oo

1115

1130 1145

1200 noon 130 pm

Aemoon SssiOn

230

245 3oo

315 330

345

4oo

415

445 5Oo 515

I 530

545

Mutation identifampn Jean-Louis Gutnet Jean Weissenbach David B e i a

Sally camper

KiranChada

Coffee

MariaBarbosa

Karen Moore

Steve Brown

Nancy Jenkins Eirikur SteingrimssoIl

WeIcome The hman genome project fiom mapping to sequencing ml) Generation of a expressed sequence map of the moue using SingIe-Strand Confonnarion Polymorphism CP) mapping of c D N k (69) AnaIysir of mutant micc reveak the hierarchy of trmcription fators that control pituitary deveIopment (93) The pygmy gene is an architectural f a tor invotved in tumorigenesis (I 4)

Positional cIoning of the beige and Chediak-Higashi qndrome genes homologow loci that regularc IysosomaIprotein traflcking (21) The beige gene is the murine o d ~ l o g u e of the hwMn Chediok Higashi w o r n (37) bosin ~mutaaons in the w e dissecting the function of a cnticd ldquohybridrdquo motor molede in sensoty hau cells (2s) Moleculcrr genetic dissection of m o m unconvemonal myosin V 153) Moledargenetic analysis of b-euroiZH-Zampproteins related to microphthalmia (72)

Lunch first service - Poster session - Computa Demonmatiom Lunch secondsentice - Poster session - Computer Demommtionr Gatamp md PhysWMapping

MargitBurmei Comporotivc genetic and physical mqps of mowe Chromosome IO and hyMn 19~133 (6)

Roger Reeves From p W a I maps to sequence Chr 16 Scgvcncing Conrmkin 0) Amir Z U M ampnetamp d p amp i c d mopphg of the H3 trmuplantanbn rejecrion locw a

mOwe Chromosome 2 (13) KirstenFischaLiidahl l kendo fH2 c o m p l c r c c o m g ~ m r d ~ c l P v Z g e n r r v b f m r u t ~ 1 2 f i Christophe Chevillard Estoblirhmmt of aphysiccrl map of the entire moue Igh Iocut 6y t h

fiagmetoticn of a complete YAC a n d m R4C comg and the rhrmficmur of a partiaI RAC conti2 (131) A high molution mcqdpmtial YAC of the Nicnatmn-Prkk C npim 31 Chromosome 18 (S7) CTG repeat changes in tramgcnk micr cmrying thc genomic DMrrpra 1202)

RobatErickron

GeneviampeGourdon

Coffee

MarieGhristine S i ia Analysis of a 94kb genomic scqwncc WiiAin the XIC region (I 7) I

Paul Deany P W a I mapping of the m e X cbomasome (29) YasuShiOkazald A genetic Iinkagt map of thr s y r h hamtar andloCalirotion ofcad-

locw on chromosome 9qdI-bI using RuiSspot-inqping (16) J i i Fonjt Towardpitional cloning of the hybridstuiIy I (Hstl) gem an C h a w c w

17 (ss) Ryo Kominami Genetic amampamp of T cell ljmphoma inriiccrd by 7 -ramp irradimforr ( I 28)

Eucu a high mdvtion miutxatzlampe m r ~ of tht m4w Recent devliopments in the rat gem map and compmotivr mrqDping WW the moue (73)

cu) 1 --

6OO MichaelRhamps 615 mranLevan

630 Chromosome Committee meetings 730 End of working sessionr

Morning seiswn 830 am 845 930

Wednesday October 9 QuantaotivC Inheriiance and Mulligenlc Traits

Christos B d a s Lorraine Flaherty HiroshiMasuya

Quantitampe genetics of cocaine induced stereolyw (30) QTLr and a possible mutation qfecting contextual memory (1 09) UultigeniC control of the anteroposteriw axis jiormrrtion in moue limb

945 1ooo

1015

1045

1130

1145

development (6s) QlLF controlling normal variation in neuron munber and brain weight (IS) Gene basis of retinalphenotype madificarion in the ocular retardotion mouse (4)

Robert Williams SharmilaBasu

Coffee

Richard Mural

Anne Pud

Roxmary Elliott

Exon prediction pail and the challenge of automated annotation of DNA sequences (B2) Mapping of the genu conbibatring to high and low ant ib4 responsiveness in Bioiamp mice (75) At least two loci affect amp sterilw between Mus mafedonicus and C57BU6 (12s)

j 1

I

12OO noon 1 30 pm

Ajlanoon Session I

230 2 4 5

3oo

t 315 330

345

400

Lunch f in t service - Poster session - Computer DcmoNtrotons Lunch secondservice - Poster session - Computer D c m o ~ a t i m

HCltne Courvok MarieDarnon

GtoIge carkan Mochrs o f t h e p h e w indvcrdbyAkheimeromyloidpcw~aprotein

Edward Wakeland AlanAttie

eurovie Melanitou

Benjamin A Taylor

A major quantitaive ampai locw injluencu hymactivity in the WKHA rat (1 02) Intcrstrain drmnca in thepkmbarbircrl rupoiuivenur of detarication fknctiont in mouse liver (135)

(P) owreVmssion in trmgenic mice (5) Functional dissection of SLEpgthogtM with congtnic swim 180) Sjwrgisrn between BTER a d B57BU6 alleles prodvcu an d i n rvirrance synampom in (BTBRx B57BU6) FI mice (146) ConrbYcton of congenic lines segrrgming a Trpc 1 -ma ~UISI(IK allels cf mouse chromome 6 in a NOD background (90) AncJysir qfdt igenic obuity in Strain crassu (163)

415

Afiemoon Skssbn R 445

5oo 5lS 5 3 0 545 600 230

coffa

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730

Pier0 Carninci John Schimenti

Martine Cohen Salmon

High-eJ4ciencyjkll-length cDNA cloning by biorinyrorrd C4P p q p (18) Chromosomal Deletion Comp1cc-e~ in Mice by Radiaion of Embryoamp srcm Cells (201) Molecular barir of ampaamp Iampnc~oon of cccMear-speclfic m m e cochlear substrated cDNA librmy lindcntanding of theprdquohosenv of the Usher type LB Jyndrome (205) Altered trmmptional regularion of C h 4 associated with tk d$amp chromosomal location in MUS sprecu~ and laboratoty straitu ofmice a4

Christine Disteche

coffee J E Martin SHIRPA - A standarakedprotocol for phcnogypic assu~ment (140) Majs B u m Phenow- andgenow-baed screen for novel Erm-inducd mutatiom in rh

m m e (66) Monica Justice nte albino (c) and pink- diIution (p) ngiom of mouse Chr 7 moamphf i

~ ~ f k n c t i o n a l g e n o m i c r (74) coriiicvemet lk quaking STAR gene family (145) Miriam Meisler Two models of inherited newownuculm ampcaw in the m w e ( I )

Lunch finr service - Poster session - Computer LkmonrirOtiOnr Lunch second service - Poster session - Computer D e ~ a t i o ~ Imprinting andMutotfon Idmiyzcettorr

Josephine Peters Luisa Dandolo Bruce cattanach Neal Copeland Hee-Sup Shin

Colin FIetcha Johannah DoyIe

A new i m p r i h g region in disrcrl mouse Chromosome 2 (203) Imprinting mrd the Hl9-1 locus (SI) A model f w Angelman Jyndiomr in thr moue (108) Position e f f i mututiom the Wand SI loci (7 Combined nqatirement of Phapamplae C isoqme~ beta1 and betad fw postnatal pwth and dntelopment of the moue (374) Positional cIonhg of m u tottering a modrl f w hwnnn epileptaria (77) Compmative mapping of hwuur chr~osomc 19 region and identificarion of a candidoic gene for the mowe tom mutation (I 16)

Coffee

Banard Dujon

L i i Stubbs

Duslca 1 Sidjanin StephalH8rdia

General ampcausion-fktwr meetings

Thc Ye- Genome P r m f i a m the sequenct to thefknctional anorySis and

Mouse translocation mutanff as took for anchoring diseasuehtcd p h e n o p to the nunue and humun geneamp a n d p m maps (114) ntc major intrinricprotcin (blip) gene is a mvtotrdgrna in the HFI m o w (2M) Mus qxetus-specijik LlN51 hybnXzationprobes dctlct introgression oFru sprrtus a l k k inro Mus muscuhls domestiau fro)

bEvond W3)

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I I ~ ~

Mammalian Genome 8461463 (1997)

Meeting report 10th International Mouse Genome Conference Sally A Camper Miriam H Meisler Department of Human Genetics University of Michigan Ann Arbor Michigan 48109-0618 USA

Received 27 February 1997 Accepted 3 March 1997

Ten years after hosting the First International Mammalian Genome Conference in Paris in 1986 Dr Jean-Louis GuCnet presided over the Tenth Conference at the Pasteur Institute October 7-10 1996 The 1986 conference was a satellite to the Human Gene Mapping Workshop and had approximately 50 attendees The 1996 meeting was attended by 300 scientists from around the world In the interim the number of mapped loci in the mouse increased from 1000 to over 20000 The contributions of Dr GuCnet to this decade of progress include more than 60 published gene mapping reports the development of interspecific backcrosses for high- resolution genetic mapping [ I] and ongoing investigations of mouse models of human neuromuscular disorders

This Conference was dedicated to the memory of Dr George D Snell(1903-1996) Dr Snell received the Nobel Prize in 1980 for fundamental contributions to the field of-immunogenetics His pioneering work at The Jackson Laboratory provided the basis for understanding the graft rejection process and the development of human organ transplantation Identification of individual genes contributing to the multifactorial inheritance of transplant toler- ance was a formidable challenge in 1942 when only 8 linkage groups and 23 mouse loci had been identified [2] Dr Snell estab- lished the first localization of a histocompatibility gene on what is now known as Chromosome (Chr) 17 [3] The subsequent mapping of more than 40 histocompatibility loci has contributed sig- nificantly to the development of the mouse genetic map

This brief review highlights a few of the more than 200 papers presented in Paris International Mouse Chromosome Committee meetings Issues related to the generation of consensus genetic maps from multiple independent crosses and the development of new formats for pre- sentation of genetic and physical data were discussed at this years committee meetings Software for on-line editing of the maps was introduced by The Jackson Laboratory informatics group Hence- forth the Committee Maps will be continuously updated by committee members The committee-generated consensus maps can be accessed electronically at (httpwwwinformaticsjaxorgl mgdhtm1) Matnmalian Genome will continue to publish a printed version on an annual basis with the next issue scheduled for publication in August 1997 Mutant generation and identification The discovery of the ly- sosomal trafficking regulator gene Lyst responsible for the mouse beige mutation and the human Chediak Higashi syndrome was described by Maria Barbosa (University of Florida) and Karen Moore (Millenium) The two groups initially identified nonover- lapping cDNAs that were later shown to be 5 and 3 portions of the large Lysf transcript [45] Identification of the calcium channel alpha subunit gene responsible for the allelic neurological mutations tottering and leaner was reported by Colin Fletcher (Freder- ick Cancer Center Md) This work was facilitated by a congenic strain that narrowed the nonrecombinant interval and the availability of two independent alleles From comparative mapping Johan-

Correspondence IO MH Meisler

nah Doyle (Oak Ridge National Laboratory) predicted that the same gene would be mutated in the human disorders Familial Hemiplegic Migraine and Episodic Ataxia 2 a prediction that was recently confirmed [6] A defect in the major intrinsic protein gene Mip was shown to be associated with cataract development in the Hfi mouse by Duska Sidjamin (Univ Pennsylvania) Jonathan Stoye (Mill Hill) described the cloning of the Fvl gene responsible for resistance to the murine leukemia virus (MLV) This locus encodes a product with homology to retroviral gag genes suggesting that endogenous mammalian retroviruses may serve unsus- pected biological functions

A screening program for identification of mutations affecting vision and hearing was described by Muriel Davisson (Jackson Laboratory) Seventeeh new vision and 15 new vestibular variants have already been identified A Mutagenesis Handbook Database with protocols screening techniques and updates on projects in progress is under development at the MRC Hanvell (httpll wwwmguharmrcacukMGU-welcomehtm1) Maya Bucan (Univ Pennsylvania) described the screeningpf lo00 offspring of ENU mutagenized males using a protocol that combines a whole genome screen for dominant behavioral traits with a hemizygous screen for novel mutations within the W9H deletion on Chr 5 Physical and genetic maps A genetically anchored YAC frame- work map of the mouse X Chr was described by Paul Denny (MRC Hanvell) and represents the first step towards a complete physical map of this 160-Mb chromosome Results of a large-scale sequence spanning 94 kb around the Xist locus were presented by Marie-Christine Simmler (Pasteur Institute) including identification of a unique transcript expressed in testis and comparison of methods for sequence analysis Substantial progress on the physical map and DNA sequencing of mouse Chr 16 was reported by Roger Reeves (Johns Hopkins Baltimore Md) Sequence comparison with human Chr 21 led to the identification of genes not recognized by computer software Analysis of a 2-Mb contig of the H2 major histocompatibility region revealed an ancient family of eight MHC class I genes (Kirsten Fischer Lindahl University of Texas southwestern Dallas)

Genetic mapping of expressed sequence tags in the mouse complements DNA sequence analysis and provides access to cDNA libraries from early developmental time points and diverse tissues The chromosomal mapping of gtlo00 brain cDNAs using SSCP to detect interstrain variation was reported by David Beier (Harvard Medical School Boston) Greg Lennon (Lawrence Livermore California) described the mouse EST project of the IMAGE consortium Forty thousand cDNAs from 22 cDNA

libraries including normalized libraries prepared by Bento Soares have been sequenced at Washington University St Louis and deposited into dbEST (httpwww-biollnlgovbbrpimage imagehtml) The goal is to complete 400OOO sequences in 2 years and the donation of additional mouse cDNA libraries for this project was requested Systematic mapping of the mouse ESTs i s not yet planned The fact that 80 of the positionally cloned human disease genes are represented in the human EST database (5 162)

I I --2- - -- - -

I

indicates that completion of the mouse EST project will have a major impact on positional cloning New technology and resources A novel two-step method for generating nested deletions around a locus was described by John Schimenti (Jackson Laboratory) After targeted integration of a negatively selectable marker in ES cells cells are irradiated to generate random chromosomal deletions and grown in selective medium to isolate clones that have lost the marker The length and extent of the resulting set of nested deletions can be determined by PCR assay for loss of heterozygosity with ES cells derived from an F hybrid between two inbred strains The SHIRPA protocol for standardized evaluation of new mutants was described by J E Martin (Royal London Hospital) One person can evaluate 100 mice per day with 5-step protocol that includes assessment of body posturc spontaneous activity transfer arousal piloerection startle response gait mobility grip strength pinna and corneal reflex and response to toe pinch and handling Adoption of a standardized protocol would provide objective reproducible data and would facilitate comparison of mutant phenotypes described in different laboratodes CAP trapper an efficient method for constructing full-length cDNA libraries on the basis of chemical introduction of a biotin group into the diol residue of the cap site followed by selection for full-length cDNA with streptavidin-coated magnetic beads was described by P Carninci (RIKEN Japan) Chromatin structure and gene regulation On the basis of analysis of mild alleles at the Steel locus that are located at distances up to 180 kb from the MCGF structural gene Neal Copeland (Fred- erick Cancer Center Md) proposed that long-distance position effects may be more common in the mammalian genome than has been recognized [7] Bruce Cattanach (Hanvell UK) presented a mouse model for the Angelman and Prader Willi syndromes that affect imprinted loci the relationship is supported by expression studies comparative mapping and phenotypic analysis A new imprinted region of mouse Chr 2 was described by Jo Peters (Har- well UK) Analysis of targeted mutations of Puxl by Rudi Balling (Munich) demonstrated that the severe spontaneous alleles of un- dulated that involve sizable deletions are likely to disrupt additional genes Rat and hamster genetic maps A complete genetic map of the hamster genome was generated with the RLGS two-dimensional DNA technology by Yasushi Okazaki with Yoshihide Hayashizaki (RIKEN Japan) The map was used to localize a cardiomyopathy locus and will facilitate genetic analysis of other hamster mutants [8] Recent progress on the genetic map of the rat includes estab- lishment of the database RATMAP (httpratmapgengse) and organization of a Rat Genetic Nomenclature Committee Goran Levan (Goteborg University Sweden) reported that 1600 genes have been mapped to rat chromosomes by linkage analysis and FISH providing 85 coverage of the genome Informatics and databases MRC Hanvells new web site (httpl wwwmguharmrcacukMGU-welcomehtml) will provide genetic imprinting maps chromosomal aberrations searchable lists of mouse frozen embryo and mutant stocks and a mutagenesis handbook (Mark Shivens MRC h e l l ) Judith Blake and Janan Eppig (The Jackson Laboratory) described the evolving status of the Mouse Genome Database a comprehensive database for genetic and biological data (httpJwwwihfoxmaticsjaxorg) and the Gene Expression Database for Mouse Development (GXD) (hwJ wwwinformaticsjaxor~~~html) a database containing images of embryonic expression data Quantitative trait analysis Several groups reported progress in identification and refined localization of quantitative trait loci (QTLs) Phenotypes currently under investigation include obesity diabetes insulin resistance hyperactivity in the rat w e i m e r disease brain and retinal development antibody responsiveness and psychomotor response to cocaine Lorraine Flaherty (Albany Nu) identified loci affecting contextual memory in crosses between inbred strains and also in progeny of a mutagenesis expen-

ment Miroshi Masuya (Mishima Japan) demibed two loci that modify the preaxial polydactyly phenotype of Rim4 mutant mice as well as several classic limb mutants suggesting an iqmtant role in formation of the alltenopostenor axis of the limb Ed Wake- land (U Florida Gainesville) described the phenotypes of four congenic lines generated by marker-assisted selection to separate the components of susceptibility to systemic lupus erythematosus (SLE) in the NZM2410 moue strain Guest lectures Jean Weissenbach (Pasteur Institute) reported on the current status of the human genome project including the mapping of more than 15000 ESTs by a consortium of American and European laboratories [9] The genetic length of the CEPH- based human genetic map is 3700 cM Mutations in microsatellite markers were found to be responsible for some apparent double recombinants The future role of silicon chip-based mutation detection for genetic disorders was also discussed Bernard Dujon (Pasteur Institute) described the challenge of deriving functional information from the complete sequence of the yeast genome [lo] This genome contains approximately 6OOO protein coding genes only of which were recognized prior to the sequence analysis The EUROFAN project with 138 participating laboratones will focus on functional analysis of the 2000 yeast genes whose function is currently unpredictable Since a significant fraction of yeast genes have sequence similarity to mammalian genes the functional genomics of the yeast will have profound implications for mammalian genetics Richard Mural (Oak Ridge National Labo- ratory) described improvements in the GRAIL software for exon prediction and demonstrated the powerful analytical and graphical programs now available for genomic sequence (1 1) He empha- sized the importance of developing new methods of annotation that would enable investigators to contribute data from experimental analysis of gene function as additions to sequence entries in the databases Future meetings The Eleventh Mouse Genome Conference or- ganized by Edward Wakeland (U Florida Gainesville) will be held from October 12 to 16 in St Petersburg Florida Registration information is available electronically at the website (httpll mcbiomedbuffaloedul limgd) and by email (dmillermcbio medbuffaloedu) Membership in the International Mammalian Genome Society (BIGS) which sponsors these Conferences is open to a l l interested investigators Special membership rates are available for conference registration and subscriptions to Mammh- lian Genome To become a member of the IMGS contact Darla Miller IMGS Administrative Manager Department of Molecular Biology Roswell Park Cancer Institute Buffalo New York 14263 USA

Achwfedgmnts This conference was funded by the Institut National de la Sante et de la Recherche Medicale (INSERM) the U S National Center for Human Genome Research (HGoo756) and the U S Department of Energy Support was also received from the International Mammalian Ge- nome Society and from M m m d i u n Genom

References 1 Avner P Amar I Dandolo L Gutnet J-L (1988) Genetic analysis of

2 Russell ES (1985) A history of mouse genetics Annu Rev Genet 19

3 Gorer PA Lyman S Snell GD (1948) Studies on the genetic and antigenic basis of tumour transplantation Linkage between histocom- patibiiity gene and fused in mice Proc R Soc London Ser B 135 499-505

4 Barbosa MDFS Nguyen QA Tchemev JA Ashley JA Detter JC Blaydes SM Brandt SJ Chotai D Hodgman C Solari RCE b V e K M Kingsmore SF (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes Nature 382 262-265

5 Perou CM Moore KJ Nagle DL Misumi DJ Woolf EA McGrail SH Holmgren L Brody TH Dussault BJ Jr M o m CA Duyk GM

the mouse using interspecific crosses Trends Genet 418-23

1-28

SA Camper MH Meislec Meeting Report

Plyor W Li L Justice MJ Kaplan J (1996) Identification of the murine beige gene by YAC complementation and positional cloning Nature Genet 13 303-308

6 Ophoff RA Terwindt GM Vergouwe MN van Eijk R et d (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Caz channel gene CACNLIA4 Cell 87543-552

7 Bedell MA Jenkins NA Copeland NG (1996) Good genes in bad neighborhoods Nature Genet 12229-232

8 Okazaki Y Okuizumi H Ohsumi T Nomura 0 Takada S Kamiya M Sasaki N Matsuda Y Nishimura M Tagaya 0 Muramatsu M Hay-

463

ashizaki Y (1996) Genetic-linkage map of the syrian hamster and localization of cardiomyopathy ~ocus on chromosome 9QA21-Bi US- ing RLGS spot-mapping Nature Genet 13 87-90

9 Weissenbach J (19) Landing on the human genome Science 274 2055-2070

IO Dujon B (1996) The yeast genome project-what did we learn Trends Genet 12363-270

11 Uberbacher EC Xu Y RJ Mural (1996) Discovering and understanding genes in human DNA sequence using GRAIL Methods Enzymol 266259-28 1

6

Am 1 Hum Genet 59764-771 1996

REVIEW ARTICLE The Role of the laboratory Mouse in the Human Genome Project Miriam H Meisler

Department of Human Genetics University of Michigan School of Medicine Ann Arbor

Introduction

The long-term goal of the human genome project is to identify and establish the function of each of the esti- mated 100000 genes in the genome The gene-discovery phase of the project is proceeding rapidly via large-scale sequencing of genomic and cDNA clones Establishing the functional roles for these genes is the challenge for the future New methods have improved the power of the laboratory mouse to address questions of gene function and have attracted many investigators to the field There has been dramatic progress in the efficiency of positional cloning of mutant mouse genes induction of new mutants by chemical mutagenesis targeted mutation of cloned genes by homologous recombination strategies for analysis of polygenic traits and comparative mapping of the human and mouse chromosomes The contents of recent issues of the journals Human Molecular Genetics Nature Genetics and Genomics demonstrate the striking extent to which mouse genes and mouse mutants now occupy the attention of human geneticists This paper provides a brief survey of recent developments with par- ticular relevance to human genetics and the analysis of gene function

Two useful reference books have recently been published The excellent textbook by Silver (1995) provides historical background and an up-to-date account of current methods in mouse genetics The third edition of Genetic Variants and Strains of the Laboratory Mouse (Lyon et al 1996) provides comprehensive information including descriptions of mouse strains mutants poly- morphisms and chromosome variants

The Human Mouse Comparative Map

The key to establishing relationships between human and mouse genes is the comparative map The

Received June 21 1996 accepted for publication July 111996 Address for correspondence and reprints Dr Miriam H Meisler

Department of Human Genetics 4708 Medical Sciences II Box 0618 University of Michigan Ann Arbor MI 48109-0618 E-mail meislermumichedu 0 1996 by The American Society of Human Genetics All rights reserved 0002-9297965904-0005$0200

human and mouse genomes contain -150 conserved segments with nearly identical gene content The identified conserved linkage groups now span almost 90 of the genome and new mapping data are rapidly filling the gaps (Dietrich et al 1995 Nadeau et al 1995 Debry and Seldin 1996) Conserved linkage relationships make it possible to use gene identification and map position in one species to predict location in the other and to recognize true homologies between mouse mutants and human disease A small portion of the Debrybeldin comparative map showing the short arm of human chromosome 2 is reproduced in figure 1 The 27 genes that have been mapped in both species fall into four conserved linkage groups that are located on mouse chromosomes 6 11 12 and 17 The indicated gene order is derived from meiotic mapping of the mouse genes since most human genes are mapped cytogenetically and are not ordered within chromosome bands

Physical mapping has provided high-resolution sompar- isons for a few regions of the human and mouse genomes For example the relative positions of six known genes in the 600-kb interval between LDHC and 5 l Y O D l are clearly conserved (fig 2) Large-scale comparmvr genomic sequencing of intervals like this one could rewlt in Sene discovery based on conservation of function~l quences At an average spacing of 30 kb per gene kcimpratwe sequencing might idenufy an additional 1 5-20 wnc- lo- cated between LDHC and MYODl

Mouse mapping has been facilitated by the Jc clop- ment of cumulative mapping panels whow hircd use is similar to that of the human CEPH pedigree cLcpt that linkage phase is known and every meicii I ifitor-

mative The widely used BSBand BSS h h c r o t e s from the Jackson Laboratory with 94 mciow c x h have been typed for gt1500 genes and mirker Kowe et al 1994) The European Community Irirrrrccitic Backcross contains 1000 meioses (European H1ck- cross Collaborative Group 1994) A large nirniivr tzf genes have been mapped on other backcroc in rhe laboratories of Nancy Jenkins and N e ~ l C tq-elJnd and Michael Seldin and Christine Kozak Iiiwnsus maps are compiled by the International 5loue h r o - mosome Committees and published as dn iiiiiiiI tap- plement to the journal Mammalian Genomr ( l i i line

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Meisler Role of Avouse in Human Genome Project

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Figure 1 Comparative gene map of the short arm of human chromosome 2 with four conserved linkage groups on mouse chromosomes 6 11 12 and 17 Mouse map positions are given in centimorgans from the centromere The complete comparative map can be accessed electronically at httpwww3ncbinlmnihgovRIomologyl Adapted from Debry and Seldin (1996) with permission S = syntenic subchromosomal location not known

sources of updated information for crosses comparative humadmouse maps and related data are listed in table 1 Conserved linkage and Isolation of the Usher I B Gene

An example of the practical value of the comparative chromosome map is provided by the isolation of the gene responsible for Usher syndromelB the most fre- quent cause of deaf-blindness in humans Usher 1B and the mouse deafness mutant shaker2 had previously been mapped to a conserved linkage group on mouse chromosome 7 and human chromosome llq13 suggesting that they might be caused by mutations in orthologous genes The shaker1 gene was isolated in 1995 by positional cloning The mutated gene Myosin 7a encodes an un- conventional myosin expressed in the hair cells of the inner ear (Gibson et al 1995) Within a short time mutations were also identified in the M Y 0 7 A gene of Usher patients (Weil et al 1995) and the papers describ- ing the mouse and human mutations were published back to back This paradigm motivates much of the current effort in positional cloning of mouse mutants

Positional Cloning of Spontaneous Mouse Mutants

The array of abnormal phenotypes associated with single-gene mutations in the mouse have fascinated biol-

ogists for decades and are now proving to be a valuable resource for identification of the underlying molecular disorders Of the 600 spontaneous mouse mutants described in the new edition of the Mouse Locus Catalog (Doolittle et al 1996) 70 have been cloned within the past few years and gt50 additional cloning projects are in progress Several mouse mutants have led to the identification of homologous human disease genes (table 2)

The current success in positional cloning of mouse mutants can be attributed to the efficiency of high-resolution genetic mapping the density of genetic markers and the availability of physical mapping resources Crosses segregating the mutant of interest and containing several thousand informative meioses can be readily generated localizing the mutant genes to intervals of ltSO0 kb The 6600 microsatellites developed by the WhiteheadMIT Genome Center have provided essential polymorphic markers for high-resolution genetic mapping of mutants (Dietrich et al 1996) Many of these microsatellites are polymorphic between in bred strains as well as in the more distantly related M u s musculus castaneus and M spretus Independent mapping of candidate genes contributed to many of the suc- cessful positional cloning projects and knowledge of the humadmouse conserved linkage groups has been important for recognition of candidate genes Physical resources for positional cloning in the mouse include gt10 genome equivalents of YAC clones as well as PI and bacterial artificial chromosome libraries that can be screened commercially The mouse expressed sequence tag (EST) project at Washington University plans to generate 5 end sequences from 200000 to 400000 cDNAs from embryonic and adult tissues By focusing on coding sequence and on tissues and embryonic stages not readily available from human sources it is anticipated that many novel genes will be identified Mapping these ESTs in mouse and man would enhance their value for positional cloning efforts in both species

A number of interesting mouse genes have been isolated from insertional mutants caused by random integration of microinjected uansgenes (table 31 The transgene provides a probe for isolation of the disrupted gene (Meisler 1992 Meisler et al 1996) Approximately 3 of transgene insertion sites areassociated wlch visible viable mutations and another 10 result in prena- tal lethality Although some transgene insertion sites have deletions that may span several centimorgans (Kel- ler et al 1994) insertions have already facilitated the cloning of several novel genes

Chemical Mutagenesis and Genetic Dissection of Complex Pathways The Clock Mutation

Most of the classical mouse mutants arose spontane- ously or were induced by radiation The success of posi-

766 Am J Hum Genet 59764-71 19

LDHC LDHA S A A TPH K C N C I UYODI Human llp151 EIHH B kgtj

I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0

L d h J L d h l Sua Tph Kcncl Myod l pgq a amp$$j Mouse 7 I I I I I 0 2 0 0 4 0 0 6 0 0

Figure 2 Comparative physical map of genes in the interval between LDHC and MYODl on human chromosome 1 1 p 15 I Jnd prouirii11 mouse chromosome 7 The human map was derived by partial digest mapping of overlapping YAC clones (Sellar et al 199-1) The rnouw mip was determined by long-range restriction mapping of genomic DNA (Stubbs et al 1994) Box width represents the inrerval to which rhr gcnc was mapped not the size of the gene Distances are given in kilobases The clustering of human SArl SAAZ SAA3 and SA44 rlndirirrd 17

asterisks [I) was recently shown to be conserved in the mouse (de Beer et al 1996)

tional cloning has regenerated interest in mutagenesis to provide genetic access to novel pathways An exciting indicator of future possibilities was the recent identification of the clock mutation affecting circadian rhythm Vitaterna et a1 (1994) monitored the wheel-running be- havior of 304 offspring of males mutagenized with N- ethyl N-nitrosourea (ENU) One animal had an ex- tended periodicity that was 6 SD units above the mean Homozygotes for this mutation demonstrate a complete loss of periodicity when maintained in constant dark- ness This is the first mammalian gene controlling diur- nal rhythms to be identified and it paves the way for genetic identification of novel mammalian genes affecting other behavioral and regulatory processes Positional cloning of the clock gene is in progress

Application of chemical mutagenesis to the mammalian genome required the development of mutagenesis protocols with high mutation rates (on the order of per locus per generation) to permit identification of mutants in any locus by analysis of a few thousand animals ENU has one of the highest in vivo mutation rates (Rus- sell et al 1979) Use of EN was pioneered by Bill Dove and colleagues to generate models of phenylketonuria

Table 1

On-line Information Sources

(LMcDonald et al 1990) It has also been applied to the generation of new alleles of existing mutants such is the circling mutant kreisler (Cordes and Barsh 1994) High mutation rates are also obtained with the mutagen shlor- ambucil (Flaherty et al 1992) which produces small deletions that may be amenable to cloning by represcnra- tional difference analysis (Baldocchi et at 1996) Trans- locations induced by alkylating agents provide phpical markers that facilitate cloning (Rutledge et 11 1986 Woychik et al 1990) Preliminary studies indicite that as many as 15 of induced translocations dre iccoliipa- nied by easily detectable phenotypes (W Gencrou ind L Stubbs personal communication)

The variety of chemical mutagens now d t o u r Jiyx)xil is likely to initiate a renaissance of interest iii iiiJiiced

mutations that will enrich our knowledge ot Imic lvology and human genetic disease Potential targets for i i i u r i p m -

sis screening include the visual immune inJ iicur( I I I Icicil systems A pilot project for the production ni iJ ~ I i ~ ~ r i I ~ i i r i o n

of ENU mutagenized male mice or their oifspriii~ r c 1 iiircr-

ested investigators is under discussion (hl Busin prc1iiiI

communication) The combination of cherntc11 i i i w w i i e - sis with positional cloning should permit the i v h r i i l i i (it

Source

~~ ~~

Uniform Resource Locator

Mouse Genom Database hrrp~wwwinformaticsjaxorgmgdhrml Mouse Locus Catalog Chromosome Committee reports

DebryISeldin Humadmouse homology map http~3ncbinlmnihgovMomology Jackson Laboratory Backcross httpwwwinformaticsjaxorgcrossdatahtml EUCIB Backcross httpwwwhgmpmrcacuWMBxMBxHomepage hrrnl Mouse genetic nomenclature httpwwwinformaticsjaxocgnomen Mouse genetic and physical maps hrrpwwwgenomewimitedulcgi-binlmousdindex

Meisler Role of Mouse in Human Genome Project 767

Table 2

Recently Cloned Spontaneous Mouse Mutants and Homologous Human Disorders

COSSERVED LISKACE GROUP

MOUSE MJ-rAsr (SYalBoL) HUMAN DISORDER GESE PRODUCT Human Mouse

beige (bg) didbetes (d6) dominant white spotting (W) dwarf Snell (dw) extra toes ( X t ) Hypodactyly (Hd) kidney and retinal degeneration (Krd) motor endplate disease (med) mottled (mo)

obesity (ob) ocular retardation (or) osteopetrosis (oc) reeler (r l ) retinal degeneration slow (rd2) shaker1 (shl) small eye (sey) Snellrsquos Waltzer (deafness) (sv) spasmodic (spd) spastic (spa) splotch ( sp ) staggerer (sg) testicular feminization (tfm) tight skin (tsk) trembler ( tr) weaver (wv) X-linked immune deficiency (x id)

multiple intestinal neoplasia (min)

Chediak Higashi syndrome

Piebaldism Panhypopituitarism Cephalopolys yndactyl y

Renal coloboma syndrome

Menkes disease hdenomatous polyposis coli

Retinitis pigmentosa Usher 1B Aniridia

Hyperekplexia

Waardenberg syndrome 1

Androgen insensitivity Marfan Charcot-Marie-Tooth Ih

Agammaglobulinemia

Vesicle protein WD40 domain Leptin hormone receptor MCGF receptor Pir-1 transcription factor

GLU transcription factor Hoxal3 Pax2 haploinsufficiency Sodium channel Scnla ATP7il APC Leptin peptide hormone ChxlO homeobox gene Transporter 12 TM type Reelin ECF motif protein Peripherin 2 Myosin VIIA Pax6 Myosin VI Glycine receptor alpha 1 subunit Glycine receptor beta subunit Pax1 RORa retinoic acid receptor Androgen receptor Fibrillin 1 Peripheral myelin protein Potassium channel GIRK2 Bruton tyrosine kinase

lq44 13 4

4ql2 5 3p l l 16 7p13 13 7p14 6 lOq2S 19 12q13 15 xq13 x 5q21 18 7q32 6 (14q2I) 12 llq13 19 (7q2 1-36) 5 6p21-cen 17 llq13 7 l lp13 2 (6p 12-91 2) 9 Sq32 11 4q32 3 2Opt 1 2

Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16

NoTE-Predicted human locations that have not been confirmed experimentally are italicized in parentheses Ellipses ( ) indicate human disorder nor identified

novel genes affecting any phenotype of interest for which a robust assay can be developed Analysis of chemically induced mutants may be as important in the future as spontaneous mutations have been in the past

Targeted Mutation by Homologous Recombination Disease Models and Gene Function

The ability to introduce specific alterations into the germ line of the mouse is one of the most dramatic developments in modern biology This technique has been used to create precise molecular models for human single-gene disorders such as cystic fibrosis and Tay Sachs disease (table 4) twenty-six disease-related targeted mutations are included in the recent review by Majzoub and Muglia (1996) Although the physiological abnormalities in the mouse are frequently not identical to those in human patients these mouse models can be extremely valuable for testing interventions (Searle et al 1994) evaluating constructs for gene therapy (Cox et al 1993 Phelps et al 1995) and identifying modifier

loci that influence disease severity (Rozmahel et al 1996) Several hundred targeted knockouts of individual genes have also been generated to provide basic information about in vivo functions (Bronson and Smithies 1994) Some unanticipated results of knockout experi- ments include the discovery of the role of the Src oncogene in tooth formation (H Varmus personal communication) and the importance of the epithelial sodium transport gene for newborn lung function (Hummler et al 1996)

Contiguous Gene Syndromes and ldquoDesigner Deletionsrsquorsquo

Deletions are a common source of human inherited disorders Deletions that were induced by radiation and chemicals have been used to identify regions of imprinting in the mouse genome (Cattanach and Jones 1994) In 1995 a general method for inducing deletions 3 or 4 cM in length with predetermined ends was described (Ramirez-Solis et al 1995) The procedure in-

768 Am J Hum Genet S9764-771 1996

Table 3

Mouse Mutants Cloned from Transgene Insertion Sites -

CONSERVED LIXKACE GROUP

MOUSE dUTAbT (SYMBOL) P H E N O ~ P E GENE PRODUCT Human Mouse

dystonia muscularis (dt) Fused (Fu) HP58 limb deformity (Id) microopthalmia (mi) motor endplare disease (med) polycycstic kidney disease Pygmy ( P d reeler (rl)

Muscle weakness Skeleral neurological Early developmenr Fused radiudulna Small eyes deaf Ataxia paralysis Kidney disease Small size Ataxia

Dystonin BPAGl Transcriprion factor Yeasr homolog Formin structural protein Transcription factor MITF Sodium channel Scnla TPR repeat protein

Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5

Non-Predicred human locations that have not been confirmed experimentally are italicized in parentheses

volves four gene-targeting events by homologous recombination in embryonic stem cells This method will make it possible to produce precise mouse models of contiguous gene syndromes Induced deletions can also be used in combination with chemical mutagenesis to identify functional genetic elements within a specified deleted interval

Combination of Deletions with Mutagenesis for Functional Analysis of Defined Chromosome Intervals

An efficient strategy for identification and localization of functional genetic elements is to cross chemically mutagenized mice with mice carrying induced deletions so that recessive mutations located within the deletion are visible in the offspring This approach was pioneered by Gene Rinchik at the Oak Ridge National Laboratory using a radiation-induced deletion around the albino locus (Rinchik et al 1990) Analysis of 3000 offspring of EN-treated males resulted in identification of many distinct functional elements within the deletion (Rinchik et al 1993a 19936) This method eliminates the need

for a genome scan to chromosomally map each new mutant and can generate multiple alleles of each locus that include gain of function as well as loss of function Saturation mutagenesis with ENU could in principle identify all of the functional elements within a target region although there is some evidence of differential gene sensitivity to mutagenesis Several efforts to apply this approach are in progress regions for which dense transcript maps are already available would be particu- larly productive targets

Tumor-Suppressor Genes and Loss of Heterozygosity (LOHI

Detection of LOH during tumorigenesis is facilitated in the mouse because large numbers of independent tumors can be generated on a uniform heterozygous genetic background with readily distinguishable alleles The wild mouse-derived inbred strains SPRETEi and CASTEi carry unique alleles that differ from other laboratory strains at most microsatellite markers (Dierrich et al 1994) All heterozygous F1 mice produced from

Table 4

Molecular Models of Human Inherited Disorders Generated by Homologus Recombination

Human Disorder Targeted Gene Mouse Phenotype

Cystic fibrosis Neurofibromarosis 1 Hemophilia A Tay Sachs Disease Niemann-Pick Type A Gaucherrsquos Disease Retino blastoma Glycogen-storage disease Lipid-storage diseases

Cystic fibrosis transmembrane receptor NF1 Factor VIlI amphexosaminidase A

Acid sphyingomyelinase P-glucocerebrosidase RB phosphoprotein Glucose 6 phosphatase Sphingolipid activator protein (SA)

Gastrointestinal and pancreatic abnormalities Neural crest-derived and myeloid tumors Clomng defect Neuronal storage defect Neurodegeneration Glucocerebroside storage Pituitary tumors Glycogen storage hepatomegaly enlarged kidney Sphingolipid storage disease leukodystrophy

~

a

Meisler Role of bfousc in Human Genome Project

crosses between laboratory strains and C STEi or SPRETEi are genetically identical LMuItiple tumors can be generated in each mouse by treatment with carcino- gens or crossing with transgenic mice with constitutive expression of an activated oncogene This approach has been used to identify LOH in a variety of tumor types including insulinomas (Dietrich et al 1994 Parangi et al 1995) hepatocarcinomas (Davis et al 1994 Manenti et al 1995) and lung tumors (Herzog et al 1995) LOH can be detected using microsatellite markers spanning the genome or by the restriction landmark method (Oh- sumi et al 1995) Sets of microsatellite markers with resolution of 10 cM and 30 cM as well as a genotyping service are available from Research Genetics Analysis of LOH in hybrid mice holds great promise for the identification of genes involved in the complex progression from hyperplasia to tumor

Gene Interaction and Complex Traits

The same factors that facilitate detection of LOH in hybrid mice also make the mouse a powerful system for identification of quantitative trait loci (QTLs) John Todd pioneered the use of microsatellites and mapped four loci contributing to insulin dependent diabetes (Idd) (Todd et al 1991) The mapping of QTLs associated with hypertension in the rat by Eric Lander and his colleagues was another early demonstration of this approach to an important human disease (Jacob et al 1991) Polygenic interstrain differences in cancer susceptibility and aging have also been identified Some of the mouse QTLs appear to correspond with independently mapped human QTLs (Debry and Seldin 1996)

Interstrain variation has been used to map quantitative modifiers of major disease genes such as cystic fibrosis (Rozmahel et al 1996) and colon cancer (Dietrich et al 1993) these modifiers may play a role in the vari- able course of the human diseases Although efficient strategies for positional cloning of QTLs will require further development several interesting candidate genes have been identified within QTL intervals including the defective Fc receptor near the Idd3 locus affecting autoimmune diabetes (Prins et al 1993) and the phospholipase gene as a potential modifier of colon cancer (MacPhee et al 1995) Once identified candidate genes can be rigorously evaluated by a variety of methods

Crosses between mutant mice can be used to examine directly the combinatorial effects of mutations in individual genes The effects of quantitive changes in expression of ApoE ApoAl and the LDL receptor on athero-rsquo sclerosis have been examined in crosses between overexpressing transgenic mice and mice carrying targeted ldquoknockoutrdquo mutations (Smithies and klaeda 1995) A direct correlation between blood pressure and plasma levels of angiotensinogen was demonstrated us-

769

ing combinations of mutants (Smithies and hiaeda 1995) Combining mutations in PoxI and Pdgfra produced spina bifida a novel phenotype found in neither single mutation (Helwig et al 1995) Experimental ma- nipulations of this type are likely to be important in the future investigation of complex physiological and developmental processes

Comparative Sequencing and Gene Discovery

In the course of the 160 million years of separate evolution of the human and mouse genomes functional sequences have been highly conserved and nonfunctional sequences have diverged with a mutation rate of roughly 1 per million years As a result direct comparison of genomic sequence can distinguish exons and other functional elements from nonfunctional regions The comparative maps are a guide to appropriate conserved regions for sequence comparison such lsquoIS that shown in figure 2 The largest published comparative DNA sequence is a 100-kb region of T-cell receptor gene family (Koop and Hood 1994) the L I ~ U S U ~ I I I ~ high level of conservation in intergenic regions of this sene family may be related to the history of gene duplications in the region Comparative sequencing was used successfully to identify the intensively sought gene DLI-HP tDh1 locus-associated homeodomain protein) that IF located downstream of the expanded trinucleoriclc rcpcat in myotonic dystrophy (Boucher et al l99i) 4lrcrcJ expression of DMAHP may be responsible for oiiic o f the clinical features of this disorder

One unexpected result of comparative wqiiciiLiiig has been the discovery of conserved seqilenic IiloiLs mclsquoral kilobases in length that do not contain coiiwrtd protein-coding information (Hood et al 199 ( trittith et al 1996 R Reeves personal cornrnuniciriciii 1 rsquo I Irctitial roles for these conserved noncoding w q i i m c h i i i L l u d e

generating RNA products contributing [ ( I Iiriwioorne function or regulating gene expression I mhiiicr o r locus control regions

Conclusions

We are entering an exciting era of iiircricritiii Ilrsccn human and mouse genetics Tens of t h o l i l i i J ~ III iiovel human genes will be identified by Iiryt-Lilt woniic and cDNA sequencing during the next fctv c i r x iiiIy-

sis of spontaneous and induced moiisclsquo i i i u t i t i t t i l - will play a major role in characterization oi quit tuiicti(in and experimental manipulation of the i i i c ~ i i x c I I tribute to analysis of gene interaction inJ clic i ih l ric~nce of polygenic phenotypes Comparative ~cqiiciicliit of human and mouse genomic DNA coulcl 1d1~ I I I in-

portant role in gene discovery The inoiiw t I p w c t will contribute to identification of gent c p x 8 1 d in

770 Am J Hum Gener 59764-771 1996

stages of development a n d in tissues not readily obtain- able from human sources

Acknowledgments This paper is dedicated to the memory of Verne M

Chapman ( 1938-1995) who made many contributions to the development of mouse genetics and its human applications I am grateful to Sally Camper for careful review of the manuscript and to Thomas Gelehrter Thomas Glaser Thomas Glover and the members of my laboratory for valuable discus- sions and assistance Jane Santoro provided expert editorial assistance I regret that relevant work by many investigators could not be cited because of space limitations Preparation of this manuscript was supported by National Institutes of Health (NIH) grant GM24872 Many of these topics were discussed at the 9th International Mouse Genome Conference held in Ann Arbor MI November 12-161995 with support from the US Department of Energy (grant DEFGOZ 95ER62050) and the NIH (grant HG00756)

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Recovery of probes linked to the jcpk locus on mouse chromosome 10 by the use of an improved representational difference analysis technique Genomics 33193-198

Boucher CA King SK Carey N Krahe R Winchester CL Rahman S Creavin T et a1 (1995) A novel homeodomain- encoding gene is associated with a large CpG island inter- rupted by the myotonic dystrophy unstable (CTG)n repeat Hum Mol Genet 41919-25

Bronson SK Smithies 0 (1994) Altering mice by homologous recombination using embryonic stem cells J Biol Chem 269

Brown A Bernier G lMathieu M Rossant J Kothary R (1995) The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoidantigen 1 Nat Genet 10301-306

Cattanach BM Jones J (1994) Genetic imprinting in the mouse implications for gene regulation J Inherit Metab Dis

Cordes SP Barsh GS (1994) The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor Cell 791025-1034

Cox GA Phelps SF Chapman VM Chamberlain JS (1993) New mdx mutation disrupts expression of muscle and non- muscle isoforms of dystrophin Nat Genet 4937-93

Davis LM Caspary WJ Sakallah SA Maronpot R Wiseman R Barren JC Elliott R et a1 (1994) Loss of heterozygosity in spontaneous and chemically induced tumors of theB6C3F1 mouse Carcinogenesis 151637- 1645

de Beer MC De Beer FC Gerardot CJ Cecil DR Webb NR Goodson ML Kindy MS (1996) Structure of the mouse Saa4 gene and its linkage to the serum amyloid A gene family Genomics 34139-142

DeBry RW Seldin MF (1996) Humadmouse homology relationships Genomics 33337-351

Dietrich WF Copeland NG Gilbert DJ Miller JC Jenkins NA Lander ES (1995) Mapping the mouse genome current

27155-27158

17403-20

status and future prospects Proc Natl Acad Sci USA 92 10849-10853

Dietrich WF Lander ES Smith JS Moser AR Could KA Luongo C Borenstein N et a1 (1993) Genetic identification of Mom-2 a major modifier locus affecting Min-induced intestinal neoplasia in the mouse Cell 75631-639

Dietrich WF Miller JC Steen R Merchant MA Damron- Boles D Husain Z Dredge R et a l ( l996) A comprehensive genetic map of the mouse genome Nature 380149- 152

Dietrich WF Radany EH Smith JS Bishop JM Hanahan D Lander ES (1994) Genome-wide search for loss of heterozygosity in transgenic mouse tumors reveals candidate tumor suppressor genes on chromosomes 9 and 16 Proc Natl Acad Sci USA 919451-9455

Doolittle DP Davisson IMT GuidiJN Green IMC (1996) Cat- alog of mutant genes and polymorphic loci In Lyon MF Rastan S Brown SDM (eds) Genetic variants and strains of the laboratory mouse 3d ed Vol 1 in Lyon IMF Rastan 5 Brown (eds) Genetic variants and strains of the laboratory mouse 3d ed Oxford University Press New York pp I7- 854

European Backcross Collaborative Group ( 1994) Towards high resolution maps of the mouse and human genomes a facility for ordering markers to 01 cM resolution Hum Mol Genet 3621-627

Flaherty L Messer A Russell LB Rinchik EM ( 1992) C h l o r - ambucil-induced mutations in mice recovered in homozygotes Proc Natl Acad Sci USA 892859-2863

Gibson F Walsh J Mburu P Varela A Brown K4 nronio M Beisel KW et a1 (1995) A type VI1 myosin eir~iiclecl hy the mouse deafness gene shaker-1 Nature 3-4td-h-I

Griffith AJ Burgess DL Kohrman DC Yu J B1ixhA I Khn- ton SH Boehnke M et a1 (1996) Localizarion ill Ihc htiiiio- log of a mouse craniofacial mutant to h u m m amphri iiiii wime 1 8 q l l and evaluation of linkage to human c I I id PO Genomics 34299-303

Helwig U Imai K Schmahl W Thomas BE Viriiiiiii I I X i - deau JH Balling R (1995) Interaction herwcn irrirltilited and Patch leads to an extreme form of spina tA1i 0 1 1 amp wide- mutant mice Nat Genet 1160-63

Herzog CR Wang Y You M (1995) Alle l i~ I- I i~ i l chromosome 4 in mouse lung tumors I ~ ~ i l i c I -II IIIC

tumor suppressor gene to a region homoioplur i f t i 8 liiiiii

chromosomelp36 Oncogene 111811- I X I C Hood L Koop BF Rowen L Wang K (199 I I U I V I I I iiid

mouie T-cell-receptor loci the importance l i t I~ I i r I I I ~ C

large-scale DNA sequence analyses C C ~ I pric I I r l - i i r

Symp Quant Biol58339-348 I I I I t

Schmidt A Boucher R et a1 (1996) Early Jcirh l i l t T IC ICL

tive neonatal lung liquid clearance in alphJ-C I ( $ I iciit

mice Nat Genet 12325-328 Jacob HJ Lindpaintner K Lincoln SE Kusumi k I C t i r l L c r K h

Mao YP Ganten D et a1 (1991) Genetic mIppitx I 1 I rlre causing hypertension in the stroke-prone y x i 1 i r i r l t - t - I $ ht

perterisive rat Cell 62213-224 I r w I 1

DG Kapousta NV et a1 (1994) Kidney ind rcti 11 t C b h

(Krd) a transgene-induced mutation with I t I $ $ 1

Hummler E Barker P Gatzy J Beermann t

Keller SA Jones JM Boyle A Barrow LL Killrii 11 1

Meisler Role of MOUK in Human Genome Project 771

mouse chromosome 19 that includes the P a 2 locus G e n e mics 23309-320

Koop BF Hood L (1994) Striking sequence similarity over almost 100 kilobases of human and mouse T-cell receptor DNA Nat Genet 748-53

Lyon MF Rastan S Brown SDM (eds) (1996) Genetic variants and strains of the laboratory mouse 3d ed Vol3 Oxford University Press New York

MacPhee M Chepenik KP Liddell FU Nelson KK Siracusa LD Buchberg AM (1995) The secretory phospholipase A2 gene is a candidate for the Mom1 locus a major modifier of ApcMin-induced intestinal neoplasia Cell 81957-966

Majzoub jA Muglia LJ (1996) Knockout Mice N Engl J Med 334904-907

Manenti G De Gregorio L Gariboldi M Dragani TA Pierom MA (1995) Analysis of loss of heterozygosity in murine hepatocellular tumors Mol Carcinog 13191-200

McDonald JD Bode VC Dove WF Shedlovsky A (1990) Pahhph5 a mouse mutant deficient in phenylalanine hy- droxylase Proc Natl Acad Sci USA 871965-1967

Meisler MH (1992) Insertional mutation of ldquoclassicalrdquo and novel genes in transgenic mice Trends Genet 8341-344

Meisler MH Galt J Weber J Jones JM Burgess DL Kohrman DC Isolation of genes mutated by transgene insertion In Cid-Arregui A Garcia-Carranca A (eds) Microinjection and transgenesis of cultural cells and embryos Springer New York (in press)

Nadeau JH Grant PL Mankala S Reiner AH Richardson JE Eppig JT (1995) A Rosetta stone of mammalian genetics Nature 373363-365

Ohsumi T Okazaki Y Okuizumi H Shibata K Hanami T Mizuno Y Takahara T et a1 (1995) Loss of heterozygosity in chromosomes 157 and 13 in mouse hepatoma detected by systematic genome-wide scanning using RLGS genetic map Biochem Biophy Res Commun 212632-639

Parangi S Dietrich W Christofori G Lander ES Hanahan D (1995) Tumor suppressor loci on mouse chromosomes 9 and 16 are lost at distinct stages of tumorigenesis in a transgenic model of islet cell carcinoma Cancer Res 556071-6076

Phelps SF Hauser MA Cole NM Rafael JA Faulkner JA Chamberlain JS (1995) Prevention of muscular dystrophy by full-length and internally truncated dystrophins Hum Mol Genet 41251-1258

Prins JB Todd JA Rodrigues NR Ghosh S Hogarth PM Wicker LS Gaffney E et al(1993) Linkage on chromosome

lsquo 3 of autoimmune diabetes and defective Fc receptor for IgG in NOD mice Science 260695-698

Ramirez-Solis R Liu P Bradley A (1995) Chromosome engi- neering in mice Nature 378720-724

Rinchik EM Carpenter DA Long CL (1993a) Deletion m a p ping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7 Genetics 1351117-1123

Rinchik EM Carpenter DA Selby PB (1990) A strategy for fine-structure functional analysis of a 6 to 11 cM region of

mouse chromosome 7 by high efficiency mutagenesis Proc Natl Acad Sci USA 87896-900

Rinchik EM Tonjes RR Paul D Potter MD (19936) Molecu- lar analysis of radiation-induced albino(c)-locus mutations Genetics 1351 107- 11 16

Rowe LB NadeauJH Turner R Frankel WN Letts VA Eppig JT KO MSH et a1 (1994) Maps from two interspecific backcross DNA panels available as a community genetic mapping resource Mamm Genome 5253-274

Rozmahel R Wilschanski M Matin A Plyte S Oliver M Auerbach W Moore A et a1 (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor Nat Genet

Russell WL Kelly EM Hunsicker PR Bangham JW Maddux- and SC Phipps EL (1979) Specific-locus test shows ethylni- trosourea to bethe most potent mutagen in the mouse Proc Natl Acad Sci USA 765818-5819

Rutledge jC Cain KT Cacheiro N U Cornett CV Wright G Generoso WM (1986) A balanced translocation in mice with neurological defect Science 231395-397

Searle AG Edwards JH Hall JG (1994) Mouse homologies of human hereditary disease J Med Genet 3111-19

Sellar GC Oghene K Boyle S Bickmore WA Whitehead AS (1994) Organization of the regions encompassing the serum amyloid A (SAA) gene family on chromosome 11~151 Ge- nomics 23492-495

Silver LM (1995) Mouse genetics concepts and applications Oxford University Press New York

Smithies 0 Maeda N (1995) Gene targeting approaches to complex genetic diseases atherosclerosis and essential hypertension Proc Natl Acad Sci USA 925266-5272

Steel KP (1995) Inherited hearing defects in mice hnnu Rev Genet 29675-701

Stubbs L Rinchik EM Goldberg E Rudy B Handel MA Johnson D (1994) Clustering of six human 11~15 gene ho- mologs within a 500-kb interval of proximal mouse chromosome 7 Genomics 24324-332

Todd JA Aitman TJ Cornall RJ Ghosh S Hall JR Hearne CM Knight AM et a1 (1991) Genetic analysis of autoimmune type 1 diabetes mellitus in mice Nature 351542- 547

Vitaterna MH King DP Chang AM Kornhauser JM Lowrey PL McDonald JD Dove WF et al(1994) Mutagenesis and mapping of a mouse gene clock essential for circadian be- havior Science 264719-725

Weil D Blanchard S Kaplan J Guilford P Gibson F Walsh J Mburu P et aI (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B Nature 37460-61

Woychik RP Generoso WM Russell LB Cain KT Cacheiro NLA Bultman SJ Selby PB et a1 (1990) Molecular and

genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing new mutations at the limb deformity and agouti loci Proc Natl Acad Sci USA 872588-2592

12280-287

DISCLAIMER This report was prepared as an account of work sponsored by an agency of the United States Government Neither the United States Government nor any agency thereof nor any of their employees make any warranty exprrss or implied or assumes any legal liabili- ty or responsibility for the accuracy completeness or usefulness of any information appa- ratus product or process disdosed or represents that its use would not infringe privately owned rights Reference herein to any specific commercial product process or senice by trade name trademark manufacturer or otherwise does not necessarily constitute or imply its endorsement recommendation or favoring by the United States Government or any agency thereof The views and opinions of authors expressed herein do not necessarily state or reflect those of the United States Government or any agency thereof

DISCLAIMER





I I

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Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y



Margit Burmeister


















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945

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245 3oo

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345

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Coffee

MariaBarbosa

Karen Moore

Steve Brown









RobatErickron

GeneviampeGourdon

Coffee






cu) 1 --







945 1ooo

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Richard Mural

Anne Pud

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230 2 4 5

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Tel 33-1-45688556 Fax 33-1-45688634

























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I t


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- I l














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t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

DISCLAIMER





I I

-1

Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y



Margit Burmeister


















I

t-





830 am 845 930

945

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1015

1045

11Oo

1115

1130 1145

1200 noon 130 pm

Aemoon SssiOn

230

245 3oo

315 330

345

4oo

415

445 5Oo 515

I 530

545


Sally camper

KiranChada

Coffee

MariaBarbosa

Karen Moore

Steve Brown









RobatErickron

GeneviampeGourdon

Coffee






cu) 1 --







945 1ooo

1015

1045

1130

1145



Coffee

Richard Mural

Anne Pud

Roxmary Elliott


j 1

I

12OO noon 1 30 pm

Ajlanoon Session I

230 2 4 5

3oo

t 315 330

345

400





eurovie Melanitou

Benjamin A Taylor



415


5oo 5lS 5 3 0 545 600 230

coffa

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730




Christine Disteche








Coffee

Banard Dujon

L i i Stubbs





bEvond W3)

BANQUET

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wrnburgh EH42XUUK












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Maria-Rosa










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Julia

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Oxm OX11 ORD UK




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~~



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i






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el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




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Hamamatsu 43131





PAlGE










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P I PEFTT

Christine


INSERM U 91 Tel Fax




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pons









16148Genava Itaamp










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I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

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3

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SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287




I I

-1

Chr 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 X Y



Margit Burmeister


















I

t-





830 am 845 930

945

1ooo

1015

1045

11Oo

1115

1130 1145

1200 noon 130 pm

Aemoon SssiOn

230

245 3oo

315 330

345

4oo

415

445 5Oo 515

I 530

545


Sally camper

KiranChada

Coffee

MariaBarbosa

Karen Moore

Steve Brown









RobatErickron

GeneviampeGourdon

Coffee






cu) 1 --







945 1ooo

1015

1045

1130

1145



Coffee

Richard Mural

Anne Pud

Roxmary Elliott


j 1

I

12OO noon 1 30 pm

Ajlanoon Session I

230 2 4 5

3oo

t 315 330

345

400





eurovie Melanitou

Benjamin A Taylor



415


5oo 5lS 5 3 0 545 600 230

coffa

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730




Christine Disteche








Coffee

Banard Dujon

L i i Stubbs





bEvond W3)

BANQUET

4 ABB0-n



wrnburgh EH42XUUK












r


Maria-Rosa










- Arrrr -

Genevieve










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

t-





830 am 845 930

945

1ooo

1015

1045

11Oo

1115

1130 1145

1200 noon 130 pm

Aemoon SssiOn

230

245 3oo

315 330

345

4oo

415

445 5Oo 515

I 530

545


Sally camper

KiranChada

Coffee

MariaBarbosa

Karen Moore

Steve Brown









RobatErickron

GeneviampeGourdon

Coffee






cu) 1 --







945 1ooo

1015

1045

1130

1145



Coffee

Richard Mural

Anne Pud

Roxmary Elliott


j 1

I

12OO noon 1 30 pm

Ajlanoon Session I

230 2 4 5

3oo

t 315 330

345

400





eurovie Melanitou

Benjamin A Taylor



415


5oo 5lS 5 3 0 545 600 230

coffa

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730




Christine Disteche








Coffee

Banard Dujon

L i i Stubbs





bEvond W3)

BANQUET

4 ABB0-n



wrnburgh EH42XUUK












r


Maria-Rosa










- Arrrr -

Genevieve










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287


cu) 1 --







945 1ooo

1015

1045

1130

1145



Coffee

Richard Mural

Anne Pud

Roxmary Elliott


j 1

I

12OO noon 1 30 pm

Ajlanoon Session I

230 2 4 5

3oo

t 315 330

345

400





eurovie Melanitou

Benjamin A Taylor



415


5oo 5lS 5 3 0 545 600 230

coffa

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730




Christine Disteche








Coffee

Banard Dujon

L i i Stubbs





bEvond W3)

BANQUET

4 ABB0-n



wrnburgh EH42XUUK












r


Maria-Rosa










- Arrrr -

Genevieve










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

830 am

845 930

9 4 5

1ooo

1015

1045 11oo

1115

1k30 1k45

12OO noon 130 p a

Afternoon Sessio~~

230 245 3oo 315 330

345 400

415

445

5oo

5lS 530

6OO 730




Christine Disteche








Coffee

Banard Dujon

L i i Stubbs





bEvond W3)

BANQUET

4 ABB0-n



wrnburgh EH42XUUK












r


Maria-Rosa










- Arrrr -

Genevieve










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

4 ABB0-n



wrnburgh EH42XUUK












r


Maria-Rosa










- Arrrr -

Genevieve










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287










5127MN23rdpIece






E-mail -Ohgrgm=uk

Julia

E-mail

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

V d



~ T x 7 7 0 3 0 U S


I _ f



I

1 -

-

-

1 l I I I I

I

Oxm OX11 ORD UK




BLANC


75015pariS F W

BLANC0 Tel 441235834393








E-mail

37380NOuZiily F m




BRABFr









I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

I E-mail

T d Fax

abnnialepswfr 7



















oeorges









Tel 4 4 1 2 3 5 W m Fax 441235835691


I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

I 56 34

- 2 7

0 1

E-mail IY

Tel 33145688602 Fax 33145688653

9iituQpasteurfr

+ 6

Tel 9082354026 Fax 90amp2354783




Tel 44131 651 1049 Fax 441316511059






AM- MI 481- US



E-mail





Tel 619- Fax 6194524378


~










B a r W ME 04609 US






OMampd OX13QT UK


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287


Td Fax




E-mail

I

~ u f l V O l S l E R Tel 3357573062





E-mail








~~



Tel 207-2886223 Fax 207-2886149

E-mail mtdOjzxctrg



Tel 212327-7960 Fax






Tel 33144495080 Fax 33142730640


11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

11 _j

v F



Tel 44235834393 Fax 441235834776




Fax 5149348353 C W


Tel 33144162711 Fax 33145803736



Tel 514345431 ~2936 Fax 514 345-4801











Tel 33145698482 Fax 33140613456





Tel fax

E-mail jhe9harmacuk

I







Buffak NY 14263 US

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

c






FELLOUS Marc


35043Remes F m




- I

FERNANDES


t







i






Ndtinghan NG72RD UK




Bosbn MA 02115 US

Mark


FLETCHER








Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287



Tel 441235834333x452 Fax 44123583481


33 - 1 i 36 I



GAHUINtH

Katheleen J



f

I I




Tel 3922390642 Fax 3922390764




















Ladon SWIIORE UK

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

i f

i



L













E-mail

Td 441235834393 Fax 441235834776



HIMMELBAUER Heinz




HONG H-Wml l

Tel 216-1681 Fax 2l63B-5857




Tel 215-8980021 Fax 2 1 k 2 0 4 1



7701 emdtneAvenue


Tel 2- Fax a57283574


0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

0

I I I 208

I

iode

HUPPI Konrad

Tef 3014964S92 Fax 301-402-1031






Tel 81687938 Fax 8168793859



















Am- MI 48375 US













KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287





KELlY Tel 441159223431










KO








Nilgab 561 Japan






E-mail

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

LALouETTr Alexis

E-mail












Louis














LUAN


LYON





Lcndon WlPONN UK




t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

t I

el 441713777341~3314 Fax 441713770449


Ltrkn Ell= UK











MCNEISH John D




Tel 313-763E546 Fax 3137639691






M E U a







MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

MILLER Daria

Tei 7164455840 Fax 716-845-8169



Harwell Didcot


Renal Division


Tel 314362-8266 Fax 314362-8237



w i

du

















MOREL Laurence


Tel 352-3S2-2576 Fax 3523926249




Tel 2072886390 Fax 2072866078




ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

ec-

U Joseph




NAGE Deborah









Hamamatsu 43131





PAlGE










stulld CA 945 US






Tel 441235834393 Fax 441235834776


P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

P I PEFTT

Christine


INSERM U 91 Tel Fax




Tel 3376883337 Fax 3376885155



Tel 33145688556 Fax 33145688634









pons









16148Genava Itaamp










Baltimore MD 212 US



LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

LaJdla CA 9aw7 US


RICHARD






II Tel 33145241828





I li



Tel 41547- Fax 4154763339



I 28049Madrid spdn


EQ1 Fax 468327734

E-mail mschall~ksse




c

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

L

1

7 i

3

14

SELDIN Miiel F



- S W Tel 4 4 1 p 5 8 3 4 ~ x ~





K W 606-01 Japan






SHIN


SHlROlSHl










SIMMER

Tel 33-1-45688556 Fax 33-1-45688634

























I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

















I carnb- CBlOlSB UK







Oak- TN 37763 US f

I t


i

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

- I l














Tel 8166793852 Fax 8168793859






Tel 441235834393 Fax 441235834776







149NedesBMes E-mail

75743pariscedex15


Sophie








- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287



- c Tel 441713777347Q7Q4





91002Evry Fmnce











Tel 33140613522 FaX

ZECHNER Ulrictr





Tel a072886397 Fax 2072886079


t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

t

I I ~ ~












I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

I I --2- - -- - -

I










1-28






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287






463





6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

6

Am 1 Hum Genet 59764-771 1996



Introduction














2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287




2P

765

Re1 130 11 390 6 A+aAa---4 Anx4


Catna2 334 6 1 ~ ~ Sfrp3 320 6


A

I-A-A-A~ k k


IN SITU HUMAN Mouse

2p25 2 ~ 2 5 ~ 2 4 2 ~ 2 5 ~ 2 4

2p25 2p23

2p24 I 2p24-p22 A D 3 3 p24-p23 AFOB


2p22-pZI hSOSl


Acpl TPO Rrm2 oamp


Spnb2

Map Chr

S f 50 70 60 40 40 S

20 I o S

440 S

459 465 490 120

I2 I2 12 I2 12 12 12 12 12 12 17 - 17 17 17 17 I 1 -

300 6 300 6











766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

766 Am J Hum Genet 59764-71 19


I I I I I I 0 2 0 0 4 0 0 6 0 0 8 0 0






Table 1









Source

~~ ~~





Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287


Table 2












Hyperekplexia



Agammaglobulinemia



lq44 13 4


Xqll-q12 X 15q211 - 17~12-112 11

Xq2 1 -q22 X

9

7

2lq 16








768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

768 Am J Hum Genet S9764-771 1996

Table 3







Reelin HMGI-C

6~12-p 11 ( 1 6 ~ 1 3 - 2 2 )

15q133-ql4 3~141-p123 12q13 ( 1 4 m (12913-14) (792 1-36)

1 17 I O 2 6

15 14 10 5








Table 4







~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

~

a







769






Conclusions




770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287

770 Am J Hum Gener 59764-771 1996
















27155-27158

17403-20






























































12280-287





































12280-287

10' conference internationale genome de la souris/67531/metadc710506/m2/1/high... ·...

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