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Posted at the Institutional Resources for Unique Collection and Academic Archives at Tokyo Dental College, Available from http://ir.tdc.ac.jp/ Title Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal haplogroup tree Author(s) Alternative Naitoh, S; Kasahara-Nonaka, I; Minaguchi, K; Nambiar, P Journal Journal of human genetics, 58(4): 195-201 URL http://hdl.handle.net/10130/3924 Right

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Page 1: Assignment of Y-chromosomal SNPs found in Japanese Naitoh, … · 2016. 1. 29. · Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal haplogroup tree Sae

Posted at the Institutional Resources for Unique Collection and Academic Archives at Tokyo Dental College,

Available from http://ir.tdc.ac.jp/

TitleAssignment of Y-chromosomal SNPs found in Japanese

population to Y-chromosomal haplogroup tree

Author(s)

Alternative

Naitoh, S; Kasahara-Nonaka, I; Minaguchi, K;

Nambiar, P

Journal Journal of human genetics, 58(4): 195-201

URL http://hdl.handle.net/10130/3924

Right

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Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal

haplogroup tree

Sae Naitoh1,Iku Kasahara-Nonaka1,Kiyoshi Minaguchi1, Phrabhakaran Nambiar2

1Department of Forensic Odontology, Tokyo Dental College, 1-2-2 Masago, Mihama-ku, Chiba

261-8502, Japan and 2Department of General Dental Practice and Oral & Maxillofacial

Imaging, Faculty of Dentistry, University of Malaya, 50603 Kuala Lumpur, Malaysia

Correspondence: Prof..K Minaguchi, Department of Forensic Odontology, Tokyo Dental College,

1-2-2 Masago, Mihama-ku, Chiba 261-8502, Japan. E-mail: [email protected]

Running title: Y-chromosomal haplogroups in Japanese population

1

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Abstract The relationship between Y-chromosome single-nucleotide polymorphisms (SNPs)

registered in the Japanese SNP (JSNP) database (http://snp.ims.u-tokyo.ac.jp) and Y-binary

haplogroup lineages was investigated to identify new Y-chromosomal binary haplogroup

markers and further refine Y-chromosomal haplogroup classification in the Japanese

population. We used SNPs for which it was possible to construct primers to make Y-specific

PCR product sizes small enough to obtain amplification products even from degraded DNA, as

this would allow their use not only in genetic, but also archeological and forensic studies. The

genotype of 35 JSNP markers were determined, of which 14 were assigned to appropriate

positions on the Y-chromosomal haplogroup tree, together with 5 additional new non-JSNP

markers. These markers defined 14 new branches (C3/64562+13, C3/2613-27, D2a1b/006841*,

D2a1b/119166-11A, D2a/022456*, D2a/119166-11A, D2a/119167rec/119167-40rec*,

D2a/75888-GC, O3a3c/075888-9T/10T*, O3a3c/075888-9T/9T, O3a3/8425+6, O3a3/119166-13A*,

O3a3/008002, and O3a4/037852) and 21 new internal markers on the 2008 Y chromosome

haplogroup tree. These results will provide useful information for Y-chromosomal polymorphic

studies of East Asian populations, particularly those in and around Japan, in the fields of

anthropology, genetics, and forensics.

Keywords Haplogroup / Japanese / JSNP database / Non-recombining portions of Y / Y

chromosome / Y-chromosomal haplogroup tree

Introduction

Y chromosome polymorphisms are of particular interest in human evolutionary studies and

forensic and medical genetics.1-7 Two types of Y chromosome polymorphisms have

been studied: Y short tandem repeats (Y-STRs) and Y-binary markers. Y-STR polymorphisms

are widely used in the field of forensic medicine due to their higher level of diversity than that of

Y-binary markers, and an enormous amount of Y-STR haplotype data has been accumulated (Y-STR

2

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Haplotype Reference Database–YHRD; www.ystr.org). In contrast, Y-binary polymorphisms have

mainly attracted interest in anthropological and evolutionary studies. In 2002, the Y Chromosome

Consortium (YCC) constructed a highly-resolved tree of 153 binary haplogroups by genotyping 243

binary markers on a common set of samples.5

This tree was later modified.6

Using this modified

tree, many researchers have identified new markers by comparing individual mutations. The tree

was again updated and revised in 2008 with the inclusion of 600 binary markers and subdivision

into 311 distinct haplogroups.7

Increasing the number of the bottommost Y-binary markers deepens

our understanding of recent movements and expansion of the human population, which is of interest

from an anthropological perspective. It also provides a better means of personal identification in the

forensic field. Increasing the number of defining or old internal markers may provide a clue to

understanding ancient human expansion and movement through a comparison with known

equivalent markers in the Y-chromosomal haplogroup tree. In addition, samples indicating

paralogous sequence differences could help our understanding of gene conversion events among

such sequences on the human Y chromosome.8-10

Therefore, markers on the non-recombining

portions of the Y chromosome offer huge potential in their application to anthropological,

evolutionary, and forensic studies.

Several studies have investigated peopling of Japan using Y-chromosomal binary

markers.11-14 However, these studies have mainly only used information on major haplogroups,

and investigations based on more detailed haplogroup classification remain to be made because

of the lack of suitable markers. Our group has already described the most detailed

Y-chromosomal haplogroup classification in the Japanese population by expanding the YCC

tree of 2003, assigning 5 new JSNP markers.15 These markers have now been included in the

YCC tree of 2008.7 In the present study, we further searched for new Y-chromosomal binary

haplogroup markers in the JSNP database16,17 to classify Japanese Y-chromosomal haplogroups

in greater detail. However, we adopted JSNPs for which it was possible to construct primers to

make Y-specific PCR product sizes small enough to obtain amplification products even from

degraded DNA, as this would allow their use not only in genetic, but also archeological and

3

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forensic studies.

Materials and Methods

Samples

Genomic DNA was extracted from blood samples from healthy unrelated Japanese male

individuals with informed consent. Genomic DNA of Malay individuals was extracted from

tooth samples living in and around Kuala Lumpur. Appropriate consent was obtained from the

patients. This study was approved by the ethics committee of Tokyo Dental College (approval

no. 202 and 204) and met the conditions for cooperative study at the University of Malaya. The

main set of Japanese samples included 263 individuals identical to those in an earlier study,15

in which we further detailed haplogroups at the level of the 2003 YCC tree, together with 16

Y-STR polymorphisms. If new mutations were found in a haplogroup, the number of samples

from the Japanese population (78 samples) was increased in addition to the main set of

samples.

Target for analysis and detection of biallelic markers

At the time of revision on April 4th 2012, 126 SNPs on the Y chromosome were registered in the

JSNP database, of which 5 had already been assigned to the Y-chromosomal haplogroup

tree.7,15 Therefore, in this study, we analyzed information on the remaining 121 SNPs.

According to the description in JSNP database, a total of 56 were located at pseudo-autosomal

regions (PARs), 32 carried a single copy, 28 had multiple counterparts, and 7 were uncertain for

the chromosomal position.

Amplification by PCR was performed in a 40-μl mixture containing 10 ng genomic DNA, 10

4

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mM Tris-HCl at pH 8.3, 50 mM KCl, 2.5 mM MgCl2, 0.02% gelatin, 200 μM dNTP, 800 nM each

primer, and 1.75U AmpliTaq Gold (Applied Biosystems, Austin, Texas, USA). The PCR primer

sequences, amplification product sizes, mutation positions, mutation patterns, annealing

temperatures, and chromosomal positions for 35 biallelic markers taken from the JSNP

database (http://snp.ims.u-tokyo.ac.jp)16,17 and 5 markers newly found in this study are shown

in Supplementary Table S1. A 2-step PCR amplification process was used: 95℃ for 10 min,

followed by 35 cycles of denaturation at 95℃ for 50 sec and annealing and extension at an

appropriate temperature for 105 sec. After the 35th cycle, a final extension step was performed

at the annealing and extension temperature for 10 min. Mutations were searched for by

single-strand conformation polymorphism (SSCP) gel electrophoresis. An SSCP analysis

was performed in a 17% polyacrylamide gel as described by Fujita & Kiyama,18 modified so that

the gel contained 5% glycerin; the gel and reservoir buffer were 0.5x TBE, and a 16 x 36-cm gel

of 0.4 cm in thickness was used. Electrophoresis was performed at a constant voltage of 55

V/cm at 17.5℃. All PCR products were visualized by silver staining. When differences were

found in the SSCP gel electrophoresis, PCR products of different types were directly sequenced

or re-amplified from the bands on SSCP gels and sequenced. The nucleotide sequence of all

types of sample, with or without mutations, was confirmed by sequencing.

Sequence analysis

The BigDye Terminator v1.1 Cycle Sequencing Ready Reaction Kit (Applied Biosystems,

Austin Texas, USA) was used for PCR. Excessive dye was removed using Performa DTR gel

filtration cartridges (EdgeBio, www.edgebio.com). Sequence analysis was performed on an ABI

3130 DNA Sequencer (Applied Biosystems, Foster City, California, USA)

.

Construction of primers and determination of polymorphisms

5

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Our goal was to search for haplogroup markers in the JSNP database for which we could

construct primers to make Y-specific PCR product sizes small enough to obtain amplification

products from degraded DNA. Therefore, we designed PCR products smaller than

approximately 200 bps. We first searched for sequences similar to those surrounding the

mutation position and tried to construct primers specific to the target sequences, except where

they fell into PARs. Female DNA was always used in PCR amplification as a control to

determine whether the amplification products were obtained from the X chromosomes or not.

When non-target faint bands were obtained in the PCR amplification, the annealing

temperature was increased to diminish these products. If same-sized PCR products originating

in chromosomes other than the Y chromosome were amplified simultaneously, they were

compared by SSCP gel electrophoresis and confirmed by sequencing to determine whether

Y-specific bands could be discriminated from other PCR products. Some of the Y-chromosomal

loci could not be discriminated from their counterparts on the X chromosome because they

shared the same sequence. In these cases, we compared samples derived from different

haplogroups by SSCP analysis, and if no difference was observed, we judged that there were no

polymorphic differences on either the X or Y chromosomes.

Process of sample selection for determining new binary markers

The following procedure was basically applied to detect new binary markers in the JSNP

database.

(1) We have already classified Y binary haplogroups in 263 Japanese male individuals in 20

haplogroups (Supplementary Table S2).15 These samples were used as the basic set of samples

in this study. The number of haplogroups in our original report15 decreased from 20 to 18

because the LINE1 marker was removed from the YCH Tree 2008. However, a sample from

LINE1 + individuals was included in the first search for new binary markers. In the first

6

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screening, a typical sample was selected from each of the 20 haplogroups, together with an

additional sample in the O2b* haplogroup (KN152), as its combination of Y-STR haplotypes

was somewhat different from other data on the O2b* haplogroup (Supplementary Table S2).

Finally, 21 samples for the first screening included one sample each from C1, C3*, D1, D2a,

D2b*, D2b1/M125, D2b1/022457, N/O, O1*, O2a*, O2b*, O2b* (rare type), O2b1, O3*, O3c*

(LINE1+), O3/002611, O3/LINE1 del (LINE1-), O3/021354*, O3e*, O3e1*, and Q1 haplogroup

according to the YCC 2003 classification. These were typed for the JSNP markers in question.

(2) When a mutation was found in a certain haplogroup, all samples that belonged to the

corresponding haplogroup were typed for the marker to investigate whether it defined the

same corresponding haplogroup marker or subdivided the branch. In such cases, we further

increased the number of samples in addition to the basic set of samples (Supplementary Table

S2).

(3) When no mutation was found, 29 different samples, including those carrying different

Y-STR haplotype characteristics within the haplogroups, were further selected from the basic

set and typed for JSNP markers (Supplementary Table S2). Where no further mutations were

found, this was subsequently regarded as no detection of that mutation in the present study.

Nomenclature of haplogroups and other remarks

To determine binary haplogroups, we referred to the Y-chromosomal haplogroup tree 2008 (the

YCH Tree 2008).7 To clarify descriptions, we have used + and - for the presence and absence of

mutations, respectively. In addition, in designating new lineages, we have not changed the

original binary haplogroup name used in the YCH Tree 2008 so as not to confuse the present

status of the tree. Therefore, the nomenclature for the new binary haplogroups is tentative.

Although the JSNP ID is designated by the letters IMS-JST followed by a 6-digit figure, we did

not always use this symbol to shorten description. When a new mutation was found near the

location of an IMS-JST SNP, it was designated by the original JSNP number and the distance

7

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in base pairs from the position of that IMS-JST SNP followed by + or – depending on whether it

was downstream or upstream, respectively. In addition, when the number of the IMS-JST SNP

started with a 0-- or 00--, the 0 was deleted from the description of the new mutation.

The Y chromosome contains many paralogous sequences.9 JSNP markers which have more

than 2 copies may belong to this category. When primers were constructed, we searched for the

same sequence as that of the PCR region by BLAT to identify the number of copies on the Y

chromosome. These markers were also investigated and several markers showed variation. In

these cases, they usually displayed 2 types of PCR products in the SSCP gel. Each type was

distinguished and expressed by a slash. Markers which had more than 2 copies in the BLAT

search are referred to as multi-copy sequences in this article.

Results

Evaluation of 126 JSNPs as Y-chromosomal binary haplogroup markers

We investigated possibility of utilizing Y-chromosomal JSNPs as binary haplogroup markers.

The results of our evaluation of 126 JSNPs on the Y chromosome are shown in Table 1. Among

126 JSNPs, the positions of 5 markers15 had already been assigned to the YCH Tree 2008

(Table 1, row 1). Among the remaining 121 markers, 14 were polymorphic and assigned in this

study, including 4 multi-copied markers (Table 1, row 2). At 19 loci which included 7

multi-copied markers, Y-specific products could be discriminated, but no mutation was found

(Table 1, row 3) (Supplementary Table S1). At 2 loci, X- and Y-specific products could not be

discriminated in the SSCP gels, although they showed polymorphic differences (Table 1, row 4).

Evaluation of the remaining 86 markers was as follows. Although we examined

polymorphisms at the two loci IMS-JST021351 and IMS-JST021352 (Table 1, row 5)

(Supplementary Table S1) in PARs, the results of typing were not useful for Y-chromosomal

8

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haplogroup analysis. Therefore, we did not further study the polymorphisms of the remaining

54 markers in PARs (Table 1, row 5). Among 30 multi-copied markers in JSNPs on the Y

chromosome, 11 were described above. Suitable primers for 2 of the remaining 19 multi-copied

markers could not be prepared due to sequence similarity with other counterparts on the Y

chromosome (Table 1, row 10). We examined 5 multi-copied markers. However, the results were

so complex that we have yet to understand the process of mutation, and so have omitted any

discussion of them in this paper (Table 1, row 6). We have not yet examined the additional 12

other multi-copied markers for assignment to the YCH Tree (Table 1, row 6). We further

excluded 11 loci from the analysis because of the reasons given in Table 1 (row 7-9, 11).

Mutations in clade C

IMS-JST029149 carried a single copy on the Y chromosome, and mutations were found in the

C1 and C3 lineages (Supplementary Table S2), suggesting that it was defining marker of

haplogroup C. We found three examples of Malay individuals belonging to haplogroup C

carrying M216 T(+), but also RPS4Y711 C(-) (unpublished observation) (Supplementary Table

S2). This indicates that the M216 mutation is older than the RPS4Y771 mutation. Because

029149 was T(+) in these samples, it was assigned to the same position as the defining marker,

M216 (Fig. 1A).

IMS-JST037816 carried two copies on the Y chromosome, and mutations were found only in

the C1 lineage (Supplementary Table S2, Fig. 1A). Samples of C1 carried two bands

corresponding to C(-) and T(+) in an SSCP gel, showing that the T(+) mutation at one of the loci

of 037816 corresponded to the same position as the M105 mutation. When new samples were

examined for 037816, the locus was not amplified in one sample (Supplementary Table S2,

sample no. 1). Large-sized PCR amplification (214 bp) including original primer sequences

(Supplementary Table S1) also failed to amplify the target, suggesting that failure of

amplification was not caused by primer mismatch. This sample also lacked the Y-STR locus

9

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DYS438 (not shown). DYS438 was located in the middle of the two copies of 037816, whose

chromosomal positions on the Y chromosome were 24287112 and 24591604, demonstrating

that the sample had a defect of more than 300 kbp in size, including two 037816 loci.

When three samples of Malay individuals in the C lineage were amplified by large-sized

037816 primer pairs, a different type of SSCP pattern was obtained in one of them

(Supplementary Table S2), which carried an A/G mutation at the 80th position upstream from

the 037816 mutation (37816-80) (Supplementary Table S2). This mutation created a new

branch between the M216 and RPS4Y711 mutations in the YCH Tree (Fig. 1A). Because this

study focused on Japanese Y-chromosomal lineages, we have not included this branch in the

Y-binary haplogroup tree as yet (Fig. 1A).

IMS-JST064562 carried a single copy on the Y chromosome, and one sample in the C3

haplogroup had a mutation at the13th position downstream from 064562 (Supplementary Table

S2). We designated this lineage C3/64562+13 (Fig. 1A). This sample had a different and

characteristic Y-STR haplotype in the C3* samples (repeat structure of DYS390 and

combination of DYS385), suggesting that it belonged to a different haplogroup.

IMS-JST002612 and IMS-JST002613 were located adjacently, and carried a single copy on

the Y chromosome. Ten samples in the C3 haplogroup had a mutation at the 27th position

upstream from the 002613 (Supplementary Table S2). Because the samples in this group had a

similar type of Y-STR haplotype, we designated this lineage C3/2613-27 (Fig. 1A). These

samples carried a structural variation at the DYS438 locus, in which the repeat structure was

(TTTTC)1(TTTTA)1(TTTTC)8, unlike the common (TTTTC)n structure.15,19 The 2613-27

mutation was completely associated with the DYS438 structural variation in our samples.

Examination of 9 additional samples in the C3* haplogroup also showed 2613-27(+)

(Supplementary Table S2).

Mutation in clade D

10

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IMS-JST008425 and 008426 carried a single copy each on the Y chromosome, and a mutation

for each type was found in the D haplogroup (Supplementary Table S2). Because two samples

of Malay individuals in the E haplogroup also carried these mutations, they were considered to

correspond to the same position as the defining mutation, YAP (Fig. 1A). Comparison with the

list of YCC primers proved that the 008426 was identical to the M203.

IMS-JST055457 carried a single copy on the Y chromosome, and mutations were found in

the D2a1b haplogroup and associated completely with the 022457 (Supplementary Table S2).

Therefore, it was assigned to the same position as 022457 (Fig. 1A).

IMS-JST006841 carried a single copy on the Y chromosome, and mutations were found in

the D2a1b* haplogroup with similar distribution to the 022457 or 055457 mutation. However,

when all of the D2a1b samples in the basic set of 263 individuals and 28 additional individuals

were examined for 006841, one sample did not carry this mutation, indicating that this

mutation occurred after 022457 and 055457 (Supplementary Table S2). We designated this

lineage D2a1b/006841 (Fig. 1A).

The chromosomal position of IMS-JST119166 carried a single copy on the Y chromosome.

Although a similar sequence was found on Chromosome 1, our primers did not amplify its

counterpart on Chromosome 1. A polymorphic region commonly included 12A repeats. However,

two samples with an 11A repeat were found in one of the basic sets of the D2a1b/006841

haplogroup and in one of the 29 additional samples (Supplementary Table S2). Therefore, we

designated this lineage D2a1b/119166-11A (Fig. 1A). We propose that this lineage should be

typed together with marker 006841 or 022457, in addition to the 119166-11A mutation.

IMS-JST022456 carried a single copy on the Y chromosome, and 17 of the 37 samples in

D2a* had mutations and formed a new branch (Supplementary Table S2). We designated this

lineage D2a/022456 (Fig. 1A). One sample in this group had 11A repeats at the 119166 locus

(Supplementary Table S2). We designated this lineage D2a/119166-11A. This lineage should

also be typed together with marker 022456 (Fig. 1A)..

The mutation pattern of IMS-JST119167 was found to be a GTC deletion (GTCdel). 119167

11

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carried 4 copies on the Y chromosome, and one of the counterparts obtained using BLAT search

carried this mutation. There was another A/G mutation at the 40th position upstream from the

119167 mutation (119167-40) (rs2538946). The G mutations and GTC deletions were

completely associated in 115 samples examined in this study (Supplementary Table S2).

Although the mutation pattern including G and GTCdel was basically found in all lineages,

except the C haplogroup, 2 samples in the basic set and one in the additional samples in the

D2a* haplogroup did not carry these mutations (Supplementary Table S2). We believe that

recurrent mutation occurred in these samples. This mutation pattern was also found in one

sample in the E haplogroup in the Malay population (Supplementary Table S2). Therefore,

recurrent mutation may have occurred also in the Malay lineage. Because of the unique Y-STR

haplotypes of the mutated samples in D2a* haplogroup of the Japanese population

(Supplementary Table S2), we tentatively designated the lineage of these samples

D2a/119167/119167-40rec* (Fig. 1A). We propose that in determining this lineage the M116 and

119167/119167-40 mutations must be confirmed simultaneously (Fig. 1A).

IMS-JST075888 carried 2 copies on the Y chromosome. Although a polymorphic region of

075888 commonly included 10T repeats, one of the samples in the D2a/119167-40/119167rec

haplogroup possessed a TT/GC mutation in the T repeat in one of the 2 copies (genotype

GC+8T/10T) (Supplementary Table S2). Therefore we designated this haplogroup

D2a/075888-GC (Fig. 1A). This mutation may have occurred very recently, since the STR

haplotypes of samples SO47 and CB48 in the D2a/119167/119167-40rec* haplogroup were

identical, suggesting close lineage between these samples.

Mutation in clade F

IMS-JST001552 and 003305 carried a single copy each on the Y chromosome. Both mutations

were found in the N/O and O or Q haplogroups, respectively (Supplementary Table S2).

Because these mutations were also found in the sample of the F* haplogroup in the Malay

12

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population, we assigned these markers to the defining position of the F clade (Fig. 1A).

,

Mutation in clade O

IMF-JST075888 carried 2 copies on the Y chromosome, as pointed out above in the section

on clade D. Another type of mutation was found in haplogroup O3a3c. Haplogroup O3a3c was

classified into 3 types by different patterns of mutation: one possessed only a 10T repeat

(10T/10T type); another possessed a 9T repeat in addition to the 10T repeat (9T/10T type); and

the other possessed the 9T repeat only (9T/9T type) (Supplementary Table S2). Among 339

samples examined in this study, the 9T repeat was found only in this haplogroup, suggesting

that mutation of the number of the T-stretch at 075888 is not a common phenomenon. We

estimated the order of mutation as follows. The 9T repeat occurred in one of the repeats of

075888, producing the 9T/10T type. Next, the 10T repeat in this group further mutated into 9T,

producing the 9T/9T type. Although mutation in the number of T-repeats is not a common

phenomenon, we propose that these lineages must be typed together with O3a3c marker M134

to define the haplogroup name. Finally, we designated each haplogroup O3a3c /075888-9T/10T*

and O3a3c /075888-9T/9T (Fig.1B).

One of the samples in the O3a3* haplogroup had a mutation at the 6th position downstream

from IMF-JST008425 (Supplementary Table S2). 008425 carried a single copy on the Y

chromosome. Therefore we designated this haplogroup O3a3*/8425+6 (Fig. 1B).

The 119166 locus carried a single copy on the Y chromosome, as pointed out in the section

on clade D. Two samples in the O3a3* haplogroup had different types of mutation at 119166

(Supplementary Table S2). They carried 13A, which was different from the mutation type in

the D2a1b lineage (11A). The Y-STR types of DYS393, DYS385, and DYS434 in these samples

were unique in the O3a3* samples (Supplementary Table S2), suggesting that these samples

belonged to different lineages in this haplogroup. The same type was further found in a new

sample, and we designated this lineage O3a3/119166-13A* (Fig. 1B). This lineage must be

13

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typed together with 021354 (=P201). Among these, one sample further possessed a mutation at

locus IMS-JST008002, which carried a single copy on the Y chromosome (Supplementary Table

S2). Therefore, we designated this lineage O3a3/008002 as a branch of the O3a3/119166-13A*

lineage (Fig. 1B).

IMS-JST037852 carried 2 copies on the Y chromosome. Samples with G/C mutations in one

of the 2 copies were found in the O3a4* haplogroup (Supplementary Table S2). This lineage

was designated as O3a4/037852 (Fig. 1B).

Population study

The number of haplogroups in the basic set of 263 samples increased from 18 to 32 (Fig. 1A

and Fig. 1B). Haplogroup diversity for binary polymorphisms was calculated to be 86.2% for

the 18 haplogroups and 87.5% for the 32.

Discussion

The relationship between Y-chromosomal SNPs in the JSNP database and Y-chromosomal

haplogroups was investigated. Among 19 markers assigned in this study, 6 carried multiple

copies on the Y chromosome. Four of them, 037816, 37816-80, 075888, and 037852, carried 2

copies and the other 2, 119167-40 and 119167, carried 4 copies. 119167-40 and 119167, which

were located on the RBMY2B gene exhibited the most complex pattern. Three out of the four

loci of 119167-40 and 119167 in the human genome database were 119167-40 A(-) and 119167

GTC. One similar counterpart of the Pan troglodytes shared a non-deleted pattern with human

119167. Therefore, it is possible that this non-deleted pattern is original and that the deleted

pattern is a mutation. If so, all of the Japanese lineages (D, N, O and Q), except the C lineage,

show mutations 119167-40 A(-)/G(+) and 119167 GTC/GTCdel. The present results suggest that

14

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recurrent mutation occurred at the D clade in the Japanese population and at the E clade in

the Malay population. It is possible that gene conversion occurred on the Y chromosomal

paralogous sequences 119167-40 and 119167,8,10 and that the mutated sequences 119167-40

G(+) and 119167 GTCdel were eliminated. We have already shown a close association between

Y-binary haplogroups and Y-STR haplotypes.15 The Y-STR haplotypes of the 2 samples in

D2a/119167/119167-40* were identical and unique in the D2a haplogroup. Allele 13 in the

DYS437 locus was found only in these samples in this study (Supplementary Table S2).

Therefore, we apply mutations of 119167 and 119167-40 as a defining markers only to this

lineage, and propose a new bottom-most haplogroup lineage, D2a/119167/119167-40*.

We propose three JSNPs showing variation in the number of the same nucleotide as

markers for new haplogroup lineages. These mutations might also be considered to represent

differences in single nucleotide repeat polymorphisms rather than SNPs. However, these

markers were assigned from a number of reasons. This type of mutation was found as

119166-11A in the two lineages in the D clade, and as 119166-13A, 075888-9T, or 075888-9T/9T

in the O clade. Each type of mutation was found only in a limited haplogroup and was not

frequently found in other haplogroups. As was seen at the 075888 locus, the individual

belonging to the 075888 haplogroup in O3a3 possessed somewhat different characteristics of

Y-STR haplotype depending on each haplogroup (such as the allele type of DYS439 and

DYS385), further suggesting that it constitutes a different lineage in the O3a3 haplogroup

(Supplementary Table S2). In addition, M91, a defining mutation in the A clade, shows

variation in the number of T repeats (9T→8T), and has been used as a binary marker in the

YCH Tree.7,20 Therefore, we propose assignment of these mutations as haplogroup markers.

However, we also propose that these mutations can only be assigned to an appropriate position

on the YCH Tree if the established adjacent upstream internal marker is positive. As far as the

075888-9T or 075888-10T markers are concerned, it is possible that they were developed by

gene conversion, as 07588 has two copies on the Y chromosome. Therefore, it is also possible

that 9T/10T back-mutates to 10T/10T in some cases, although the present results are

15

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insufficient to confirm this.

This study identified 2 new branches and 5 internal markers in the C clade, in addition to

the 19 branches and 30 internal markers in the YCH Tree 2008. Hou et al.21 studied the repeat

structure of DYS438 in the Chinese population, and demonstrated the presence of

(TTTTC)1(TTTTA)1(TTTTC)8 repeat structure. As the C3/002613-27 samples contained the

same repeat structure at the DYS438 locus, it is possible that this lineage is also present in the

Chinese population.

We identified 2 defining mutations in the DE clade and 6 new branches and 8 internal

markers in the D clade, in addition to the 8 defining mutations in the DE clade and 15

branches and 23 internal markers in the D clade shown in the YCH Tree 2008. D lineages have

commonly been found in central Asia (Tibet) and Japan.7 Because the lineage in Tibet is mainly

D1 or D3a,22 it is probable that the present markers mainly subdivide lineages in the Japanese

population.

The O clade is a major lineage in East Asia. Thirty-three kinds of haplogroup and 44 kinds

of internal marker subdividing 30 haplogroups have been proposed in the YCH Tree 2008. We

have identified 6 new branches and 6 new internal markers in the O clade. Among these, 5

branches were found in the O3a3 lineage, suggesting a high level of diversity in this lineage in

East Asia.

Two markers, 001552 and 003305, were tentatively assigned to the position of F. Although

we have not yet excluded the possibility of assigning these markers to the H2 or H* lineages in

the H clade, it is possible that they do not belong to these haplogroups, as the H haplogroup has

not yet been found in the Japanese. Their possible assignment to other macrohaplogroups has

already been excluded.

As described above, the relationship between JSNP markers and Y binary haplogroups was

investigated. In this study, the D2a1b/006841 and O2b1 lineages accounted for 45% of the

Japanese male lineages. However, no markers have been discovered which would further

subdivide these lineages, suggesting that they represent a very homogeneous population.

16

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Binary markers provide useful information in the field of human genetic and anthropological

studies. It is necessary to increase new binary markers which are characteristic of a certain

geographic area in order to use these information more effectively. In the field of forensics,

binary markers also have the advantage of obviating the problem of allele drop against

degraded or low copy number materials, as long as detection of polymorphisms is conducted

carefully and without problematic contamination. These results suggest the potential of

Y-chromosomal binary polymorphisms in studies on Japanese and south-east Eurasian

populations.

Acknowledgement

We would like to thank Associate Professor Jeremy Williams, Laboratory of International

Dental Information, Tokyo Dental College, for editing this manuscript. Part of this study was

supported by the Ministry of Education, Science, Sports and Culture, Grant-in-Aid for

Scientific Research (C) (22592345).

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2. Underhill, P.A., Shen, P., Lin, A.A., Jin, L., Passarino, G., Yang, W.H. et al. Y chromosome

sequence variation and the history of human populations. Nat. Genet. 26, 358-361 (2000).

3. Jobling, M.A. & Tyler-Smith, C. New uses for new haplotypes the human Y chromosome

disease and selection. Trends Genet. 16, 356-362 (2000).

4. Gill, P., Brenner, C., Brinkmann, B., Budowle, B., Carracedo, A., Jobling, M.A. et al. DNA

commission of the International Society of Forensic Genetics: recommendations on forensic

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analysis using Y-chromosome STRs. Int. J. Legal Med. 114, 305-330 (2001).

5. The Y Chromosome Consortium A nomenclature system for the tree of human

Y-chromosomal binary haplogroups. Genome Research 12, 339-348 (2002).

6. Jobling, M.A. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of

age. Nat. Rev. Genet. 4, 598-612 (2003).

7. Karafet, T.M., Mendez, F.L., Meilerman, M.B., Underhill, P.A., Zegura, S.L. & Hammer, M.F.

New binary polymorphisms reshape and increase resolution of the human Y chromosomal

haplogroup tree. Genome Res. 18, 830-838 (2008).

8. Rozen, S., Skaletsky, H., Marszalek, J.D., Minx, P.J., Cordum, H.S., Waterston, R.H.

et al. Abundant gene conversion between arms of palindromes in human and ape Y

chromosomes. Nature 423, 873-876 (2003).

9. Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P.J., Cordum, H.S., Hillier, L., Brown,

L.G. et al. The male-specific region of the human Y chromosome is a mosaic of

discrete sequence classes. Nature 423, 825-837 (2003).

10. Adams, S.M., King, T.E., Bosch E. & Jobling, M.A. The case of the unreliable SNP:

recurrent back-mutation of Y-chromosomal marker P25 through gene conversion.

Forensic Sci. Int. 159, 14-20 (2006).

11. Hammer, M.F. & Horai, S. Y chromosomal DNA Variation and the peopling of Japan. Am. J.

Hum. Genet. 56, 951-962 (1995).

12. Tajima, A., Hayami, M., Tokunaga, K., Juji, T., Matsuo, M., Marzuki, S. et al. Genetic

origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages.

J. Hum. Genet. 49, 187-193 (2004).

13. Hammer, M.F., Karafet, T.M., Park, H., Omoto, K., Harihara, S., Stoneking, M. et al. Dual

origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J.

Hum. Genet. 51, 47-58 (2006).

14. Matsukusa, H., Oota, H., Haneji, K., Toma, T., Kawamura, S. & Ishida, H. A genetic

analysis of the Sakishima islanders reveals no relationship with Taiwan aborigines but

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shared ancestry with Ainu and main-island Japanese. Am. J. Phys. Anthropol. 142, 211-223

(2010).

15. Nonaka, I., Minaguchi, K. & Takezaki, N. Y-chromosomal binary haplogroups in the

Japanese population and their relationship to 16 Y-STR polymorphisms. Ann. Hum. Genet.

71, 480-495 (2007).

16. Haga, H., Yamada, R., Ohnishi, Y., Nakamura, Y. & Tanaka T. Gene-based SNP discovery as

part of the Japanese Millennium Genome Project: identification of 190562 genetic

variations in the human genome, Single-nucleotide polymorphism. J. Hum. Genet. 47,

605-610 (2002).

17. Hirakawa, M., Tanaka, T., Hashimoto, Y., Kuroda, M., Takagi, T. & Nakamura, Y. JSNP: a

database of common gene variations in the Japanese population. Nucleic Acids Res. 30,

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18. Fujita, T. & Kiyama, M. Identification of DNA polymorphism by asymmetric-PCR SSCP.

Biotechniques 19, 532-534 (1995).

19. Gusmao, L., Alves, C. & Amorim, A. Molecular characteristics of four human Y-specific

microsatellites (DYS434, DYD437, DYS438, DYS439) for population and forensic studies.

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20. Underhill, P.A., Passarino, G., Lin, A.A., Shen, P., Mirazon, Lahr. M., Foley, R.A. et al. The

phylogeography of Y chromosome binary haplotypes and the origins of modern human

populations. Ann. Hum. Genet. 65, 43–62 (2001).

21. Hou, Y.P., Zhang, J., Li, Y.B., Wu, J., Zhang, S.Z. &, Prinz, M. Allele sequences of six new

Y-STR loci and haplotypes in the Chinese Han population. Forensic Sci. Int. 15, 147-152

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22. Gayden, T., Cadenas, A.M., Regueiro, M., Singh, N.B., Zhivotovsky, L.A., Underhill, P.A. et

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(2007).

19

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Figure legend

Fig. 1 Y-chromosomal phylogenetic tree: a C and D clades, b O clade. Number of

samples and frequencies of haplogroups are also indicated. New markers and lineages

found in this study are shown in bold letters and haplogroups and markers not

examined are shown in light letters. In naming lineage, original states based on YCC

2003 in previous report15 are shown in parentheses.

20

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Fig. 1A

No. of Name by lineage samples Frequency

D M174

(021355) YAP

008425 008426 =M203

E

M168

P47

M15

M55

M116a

M125

M151

119167-40rec

N2

N1

P42

P12

P53.2

P120

P99

022457 055457

006841

022456

75888-GC

119166-11A

119166-11A

119167

C M216 RPS4Y711 M105

029149 (37816-80) 037816 P121

M217

M93 P143

P39

M48 M77 M86 F

M407 M89

P53.1 003305

P62 001552

64562+13

2613-27

DE*

D* D1* D1a* D1a1 D2* [D2a] D2a* [D2b*] D2a1* [D2b1/M125*] D2a1a* D2a1a1 D2a1b* [D2b1/022457] D2a1b1

0

0

1

-

-

16

14

2

-

-

1

0

0

0

0.004

-

-

0.061

0.053

0.008

-

-

0.004

0

D2a1b/006841 [D2b1/022457] 52 0.198

D2a1b/119166-11A [D2b1/022457] 1 0.004

D2a2 0 0

D2a3 0 0

D2a/022456 [D2b*] 13 0.049

D2a/119166-11A [D2b*] 1 0.004

D2a/119167/119167-40 rec* [D2b*] 1 0.004

D2a/75888-GC [D2b*]

D3*

D3a

C1*

C1a

C3*

C3a

C3b

C3c

C3d

C3e

C3f

C3/64562+13 [C3*]

C3/2613-27 [C3*]

1 0.004

- -

- -

6 0.023

- -

1 0.004

0 0

0 0

0 0

- -

0 0

- -

1 0.004

6 0.023

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Fig. 1B

No. of samples Frequency

LLY22g

M128

P43

Tat

N

M119

M101

M50

P31 M95

SRY+465

M88

47z

M122

(022454)

MSY2.2

P203

PK4

F M89 M9 M214

003305

001552 O M175

M324

M121

M164

021354 =P201

002611

Q

M74 P36

M159

M7

M113

N4

N5

P164

M134

M117

M162

P101

075888-9T

075888-9T/9T

8425+6

119166-13A

008002

P103

037852

M300

M333

M120

N1* 2 0.008

N1a 0 0

N1b 0 0

N1c 0 0

O* 0 0

O1* 0 0

O1a* 6 0.023

O1a1* - -

O1a1a 0 0

O1a2 0 0

O2* 0 0

O2a* 2 0.008

O2a1* 0 0

O2a1a - -

O2b* 22 0.084

O2b1 66 0.251

O3* 3 0.011

O3a* - -

O3a1 0 0

O3a2 0 0

O3a3* 8 0.03

O3a3a 0 0

O3a3b* 0 0

O3a3b1* - -

O3a3b1a - -

O3a3b1b - -

O3a3b2 - -

O3a3c* 1 0.004

O3a3c1* 11 0.042

O3a3c1a 0 0

O3a3c2 - -

O3a3c/075888-9T/10T* [O3e*] 6 0.023

O3a3c/075888-9T/9T [O3e*] 2 0.008

O3a3/8425+6 [O3/021354*] 1 0.004

O3a3/119166-13A* [O3/021354*] 1 0.004

O3a3/008002 [O3/021354*] 1 0.004

O3a4* 1 0.004

O3a4a 0 0

O3a4/037852 [O3/002611*] 9 0.034

O3a5 - -

O3a6 - -

Q1a1 1 0.004

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Table 1 Evaluation of 126 JSNPs on the Y-chromosome available on the 4th of April in 2012

No. of

JSNP

Examined

in this

study

Not examined

in this study

1 Already assigned on YCC tree 5 ー ー

2 Assigned in this study 14 14a

0

3 Mutation was not found in this study although Y

specific products were obtained 19 19

b 0

4 Origin of X or Y specific products were

indistinguishable 2 2

c 0

5 Located in pseudo-autosomal region 56 2 54

6 Multi-copied markers not reported in this study 17 5 12

7

Difficult to construct Y-specific primers because of the

sequence similarity with the counterparts on X

chromosome

4d

0 4

8 Y specific sequence could not be obtained from

database 3

e 0 3

9

Difficult to construct Y-specific primers because of the

sequence similarity with the counterparts on autosomal

chromosome

2f

0 2

1

0

Difficult to construct Y-specific primers for the target

locus because of the sequence similarity with other

counterparts on Ychromosome

2g

0 2

1

1 Failure to amplify clear target PCR products 2 2

h 0

Total 126 44 77

a: 4 JSNPs are multi-copied markers

b: Nos.20-28 and 31-40 in Supplementary Table S1

c: Nos.29 and 30 in Supplementary Table S1

d: IMS-JST042324, IMS-JST152957, IMS-JST173272,

IMS-JST178752 e: IMS-JST152985,IMS-JST104494, IMS-JST104495

f: IMS-JST170570, IMS-JST170571

g: IMS-JST024699, IMS-JST024700

h: IMS-JST022455, IMS-JST055814

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Supplementary Table S2 Results of analysis of biallelic markers in basic set of 263 samples (normal letters)

and 78 additional samples (oblique letters).

Binary markers other than those shown by bold

letters and Y-STR types were quoted from previous report (Nonaka et al. 2007).

C clade DE clade D clade D clade E FR F NO N clade O clade

Haplogroup name in YCC

2003 tree

Sample No.

Haplogroup name→

Makers→

C*

M21 6

C*

029149

C/37816 -80

37816-80

C*

RPS 4Y

C1*

M105

C1/0378 16

037816

C3 C3a

M217 M93

C3b

P39

C3c

M48

C3c C3c C3e C3/06 4562+1

3

M77 M86 P53.

1 064562

+13

C3/00 2613-

27

C3/00 2613-

27

DE

YA P

DE

0084 25

DE

0084 26

D

M17 4

D

0213 35

D1

M1 5

D2

M55

D2a

M11 6

D2a1

M12 5

D2a1 b

0224 57

D2a 1b

055 457

D2a 1b1

D2b1b /00684

1

P53. 2

006841

D2a1b/1 19166-

11A

119166

D2a2

M151

D2a 3

D2a/0 22456

P12 0

02245 6

D2a/119 166-11A

119166

D2a/1191 67-40rec

119167-40

D2a/119167

119167

D2a/07588 8

075888

E

SRY406 4

F→R

M89

F

00155 2

F

00330 5

K→R

M9

NO N

M214 M231

N1

LLY22 G

N1a

M128

N1b

P43

N1c

Tat

O

M175

O1a O1a

M119 M101

O1b

M50

O2

P31

O2a

M95

O2a1 O2b*

M88 SRY

O2b*

02245 4

O2b1 O3 O3a1 O3a2

47z M122 M121 M164

O3a3*

02135 4

O3a3 a

M159

O3a3b *

M7

O3a3c

M134

O3a3c/07 5888-

9T/10T,9 T/9T

075888

O3a3c1 *

M117

O3a3c1 a

M162

↓ ↓ No. of loci→ 1 2 2 1 1 1 1 1 1 1 1 1 1 1 4 4 2 2 2 1 2

C1 FS1b C1* T(+) A(-) T(+) T(+) C(-)/T(+) A(-) A(-) G(-) C(-) 12A C(-) 12A A(-) GTC 10T/10T T(-) G(-)

G(-)

10T/10T

C1 NN2 C1* T(+) T(+) C(-)/T(+) A(-) G(-) - A(-) C 12A 12A A(-) GTC 10T/10T T(-) G(-) C C T T(-) 10T/10T C1 WK3 C1* T(+) A(-) T(+) T(+) C(-)/T(+) A(-) A(-) G(-) - A(-) C 12A C(-) 12A A(-) GTC 10T/10T G(-) C(-) T(-) G(-) C A(-) C T G(- ) T(-) T(-) (-) 10T/10T (-) C1 ST4 C1* T(+) A(-) T(+) T(+) C(-)/T(+) A(-) G(-) 12A 12A A(-) GTC 10T/10T T(-) G(-)

G(-)

10T/10T

C1

C1 C1 C1 C1 C1 C1 C1 C1 C1

C3*

C3*

SO5a

CB6 2 3 4 5 6 7 8 1

KG7b

CB8b

C1*

C1* C1* C1* C1* C1* C1* C1* C1*

C1 *

C3*

C3/64562+13

T(+) A(-)

T(+) A(-) A(-) A(-) A(-) A(-) A(-) A(-)

del

T(+)

T(+)

T(+)

T(+)

T(+) C(-)/T(+)

T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) C(-)/T(+) T(+) del

C(-) C(-)

C(-) C(-)

A(-)

A(-)

A(-)

C(+) C(-) G(-)

C(+) G(-)

A(-) C(-) T(-) T(-)

C(-) T(-) T(-)

A(-)

A(-)

T(+)

G(-)

G(-) G(-) G(-) G(-) G(-) G(-) G(-) G(-) G(-)

G(-)

G(-)

-

-

T(-) G(-)

G(-)

G(-)

T(-) A(-)

(-) A(-) T(-)

C(-)

T(-)

T(-)

C(-)

C(-)

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A G(-)

C(-)

C(-)

C(-)

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A

A(-) GTC

A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC

A(-) GTC

A(-) GTC

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T

10T/10T

G(-) C(-)

T(-)

T(-)

G(-)

G(-) C

C (-) (-)

C

G(-)

G(-)

G(-) T(-)

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T

10T/10T

C3* NG9 C3/-0613-27 T(+) T(+) C(-) C(+) C(-) G(-) A(-) C(-) T(-) T(-) A(-) A(+) - A(-) C T(-) 12A C(-) 12A A(-) GTC 10T/10T G(-) C(-) T(-) G(-) C T G(-) 10T/10T

C3*

C3* IR13

a

NN10 C3/-2613-27

C3/-2613-27

T(+) A(-)

T(+)

T(+)

T(+)

C(-) C(-)

C(-)

C(+) G(-)

C(+) G(-)

C(-) T(-) T(-)

C(-) T(-)

A(-)

A(-)

A(+)

A(+)

T(-) C(-) T(-) 12A

12A

C(-) 12A

12A

A(-) GTC

A(-) GTC

10T/10T

10T/10T

T(-)

T(-)

G(-)

G(-) G(-)

G(-)

10T/10T

10T/10T C3* CB11 C3/-2613-27 T(+) T(+) C(-) C(-) C(+) C(-) G(-) A(-) C(-) T(-) A(-) A(+) - A(-) C 12A 12A A(-) GTC 10T/10T G(-) C(-) T(-) G(-) C (-) C T G(-) T(-) 10T/10T C3* HO12 C3/-2613-27 T(+) T(+) C(-) C(+) C(-) G(-) A(-) C(-) T(-) A(-) A(+) - A(-) C 12A 12A A(-) GTC 10T/10T G(-) C(-) T(-) G(-) C C T G(-) 10T/10T C3* C3* C3* C3* C3* C3* C3* C3* C3* C3* C C C

IK14 10 11 12 13 14 15 16 17 18

Malay 1 Malay 2 Malay 3

C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27

C* C*

C/37816-80

T(+) T(+) T(+)

T(+)

T(+) A(-) T(+) A(-) T(+) A(-)/G(+)

T(+)

C(-) C(-) C(-)

C(-)

C(-) C(-) C(-) C(-) C(-) C(-)

C(+) G(-) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+)

A(-) A(-) A(-) A(-) A(-) A(-) A(-) A(-) A(-) A(-)

A(+) A(+) A(+) A(+) A(+) A(+) A(+) A(+) A(+) A(+)

12A 12A 12A 12A 12A

12A 12A

12A

12A 12A 12A 12A 12A

12A 12A

12A

A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC A(-) GTC

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

T(-) G(-) G(-) 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

D1

D1 MG15

a

19 D1

D1

C(-) A(-) C(-)

C(-) A(-)

A(-) G(-) +

+

A(+) C(+) C(+) G(+) (+)

(+)

T(-) A(-) T(-) C C(-) 12A

12A

C(-) 12A

12A

A(-)/G(+) GTC/GTCdel 10T/10T

10T/10T

G(-) T(-) G(-) C C T G(-) 10T/10T

10T/10T D2a TK16 D2* + C(+) G(+) C(+) A(-) T(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) C C T G(-) 10T/10T D2a SAG17 D2* + C(+) G(+) C(+) A(-) T(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) C C T G(-) 10T/10T D2a CB18 D2* + C(+) G(+) C(+) A(-) T(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) C C T G(-) 10T/10T

D2a

D2a

D2a

CB19a

KN20b

TK21

D2*

D2*

D2*

C(-) A(-)

C(-)

C(-)

C(-)

C(-)

A(-)

A(-)

G(-)

G(-) +

+

A(+) C(+)

C(+)

C(+)

G(+)

G(+)

C(+)

C(+)

C(+)

A(-)

A(-)

A(-)

T(-)

T(-)

T(-)

C C(-)

C

C

C(-)

12A

12A

12A

C(-)

C(-)

12A

12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

G(-)

G(-)

T(-)

T(-)

G(-)

G(-) C

C

C

C

T

T

G(-)

G(-)

G(-) T(-)

10T/10T

10T/10T

10T/10T D2a

D2a

D2a

CB22

TK23b

NN24

D2*

D2*

D2* C(-)

C(-) A(-)

+ C(+) G(+)

C(+)

C(+)

C(+)

A(-)

A(-)

A(-)

T(-)

T(-)

T(-)

C

C

C

C(-)

12A

12A

12A

C(-)

12A

12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T G(-) C C T

G(-)

G(-)

G(-) T(-)

10T/10T

10T/10T

10T/10T D2a TK25 D2* + C(+) G(+) C(+) A(-) T(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T D2a

D2a

D2a

D2a

D2a

OY27

KG28b

IR29

TK26b

CB30

D2*

D2*

D2*

D2*

D2*

C(-) C(-)

A(-)

A(-)

+

+

+

+ A(+)

C(+)

C(+)

C(+)

C(+)

G(+)

G(+)

G(+)

G(+)

C(+)

C(+)

C(+)

C(+)

C(+)

A(-)

A(-)

A(-)

A(-)

A(-)

T(-)

T(-)

T(-)

T(-)

T(-)

C

C

C

C

C C(-)

C(-)

C(-)

12A

12A

12A

12A

12A

G(-)

C(-)

C(-)

12A

12A

12A

12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

10T/10T

10T/10T G(-)

C

C

C

C

C

C

C

C

T

T

T

T

G(-)

G(-)

G(-)

G(-)

G(-)

T(-)

T(-)

10T/10T

10T/10T

10T/10T

10T/10T

10T/10T

D2a

D2b*

D2b*

D2b*

HG31

CB32b

CB33b

NN34

D2*

D2a*

D2a*

D2a*

A(-)

C(-)

C(-)

C(-)

C(-)

C(-) C(-)

C(-)

A(-)

A(-) A(-)

A(-)

+

+

+

+

C(+)

C(+)

C(+)

C(+)

G(+)

G(+)

G(+)

G(+)

C(+) A(-)

T(+)

T(+)

T(+)

T(-)

T(-)

T(-)

T(-)

C

C

C

C

C(-)

C(-)

12A

12A

12A

12A

G(-)

G(-)

G(-)

G(-)

C(-)

C(-)

12A

12A

12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

10T/10T G(-)

C

C

C

C

A(-)

A(-)

T(-) C

C

C

C

T

T

T

T

G(-)

G(-)

G(-)

G(-)

T(-)

T(-)

T(-)

T(-)

C(-) (-)

(-)

10T/10T

10T/10T

10T/10T

10T/10T D2b* OI35 D2a* C(-) + A(+) C(+) G(+) T(+) T(-) C C(-) 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) G(-) C C T G(-) T(-) 10T/10T D2b* WK41 D2a* + C(+) G(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T 10T/10T D2b* HO43 D2a* + C(+) G(+) C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) T(-) 10T/10T D2b* OY44 D2a* + C(+) G(+) C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T D2b* CB49 D2a* C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* CB55 D2a* C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* CB56 D2a* C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* TK58 D2a* + C(+) G(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T D2b* MG59 D2a* C(-) + C(+) G(+) C(+) T(+) T(-) C 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b* CB60 D2a* C(-) + C(+) T(+) T(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T (-) C G(-) T(-) 10T/10T D2b* D2b* D2b* D2b*

ST61 27 28 30

D2a* D2a* D2a* D2a*

C(-) C(+) C(+) C(+)

T(+) T(+) T(+) T(+)

T(-) T(-) T(-) T(-)

C 12A 12A 12A

12A

G(-) C(-) C(-) C(-) C(-)

12A 12A 12A

12A

A(-)/G(+) GTC/GTCdel A(-)/G(+) GTC/GTCdel A(-)/G(+) GTC/GTCdel A(-)/G(+) GTC/GTCdel

10T/10T 10T/10T 10T/10T 10T/10T

C (-) (-) G(-) 10T/10T 10T/10T 10T/10T 10T/10T

D2b1/M125*

D2b1/M125*

D2b1/M125*

CB62a

KN63b

TK81

D2a1*.(xD2a1b)

D2a1*.(xD2a1b)

D2a1b*

C(-) A(-)

C(-)

C(-) C(-)

C(-) C(-)

A(-) C(-)

A(-)

A(-)

A(-)

G(-)

G(-)

+

+

A(+) C(+)

C(+)

C(+)

C(+)

G(+)

G(+)

T(+)

T(+)

C(+)

C(+)

C(+)

C(-) C(-)

C(-)

G(+) T(+)

C(-)

C(-)

12A

12A

12A G(-)

C(-)

C(-)

12A

12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

G(-)

G(-)

C(-)

C(-)

T(-)

T(-)

G(-)

G(-)

C

C

(-) C

C

T

T

G(-)

G(-)

G(-)

T(-) T(-)

T(-)

10T/10T

10T/10T

10T/10T D2b1/022457

D2b1/022457

D2b1/022457

CB65

KN66b

HG88

D2a1b/006841*

D2a1b/006841*

D2a1b/006841*

C(-)

C(-)

C(-)

C(-)

A(-)

A(-)

A(-) A(-)

A(-)

+

+

+ A(+)

C(+)

C(+)

G(+)

G(+)

T(+)

T(+)

T(+)

C(+)

C(+)

C(+)

G(+) T(+)

G(+) T(+)

G(+) T(+)

T(+)

T(+)

T(+)

12A

12A

12A

G(-)

G(-)

G(-)

C(-)

12A

12A

12A

10T/10T

10T/10T

10T/10T

G(-)

G(-)

T(-)

T(-) G(-)

C

C

C (-)

A(-)

A(-)

A(-)

T(-)

T(-)

T(-)

T(-)

T(-)

A(-)

A(-)

A(-)

C

C

C

T

T

T

G(-)

G(-)

G(-)

T(-)

T(-)

T(-)

T(-)

T(-)

T(-) T(-)

A(-)

A(-)

A(-)

C(-)

C(-)

C(-)

(-)

(-)

(-)

10T/10T

10T/10T

10T/10T D2b1/022457 KN64 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457

D2b1/022457

D2b1/022457

TK67

GM68b

CB74

D2a1b/006841*

D2a1b/006841*

D2a1b/006841*

C(-)

C(-)

C(-) C(-)

A(-)

A(-) A(-) G(-)

+

+ G(+)

T(+)

T(+)

T(+)

C(+)

C(+)

C(+)

G(+) T(+)

G(+) T(+)

G(+) T(+)

T(+)

T(+)

T(+)

12A

12A

12A

G(-)

G(-)

C(-)

12A

12A

12A

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

G(-)

G(-) T(-) G(-)

C

C

A(-)

A(-) T(-) A(-)

C

C

T

T

G(-)

G(-)

G(-)

T(-)

T(-) T(-) A(-) C(-)

(-)

(-)

10T/10T

10T/10T

10T/10T D2b1/022457 ME69 D2a1b/006841* C(-) A(-) + A(+) T(+) C(+) G(+) T(+) T(+) 12A G(-) 12A 10T/10T G(-) G(-) C A(-) T(-) A(-) C T G(-) T(-) T(-) A(-) C(-) (-) 10T/10T D2b1/022457 KM70 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 AC71 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 TK72 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 CB73 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 IR75 D2a1b/006841* C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK76 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 TK78 D2a1b/006841* C(-) C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A G(-) 12A 10T/10T C A(-) T(-) A(-) C T T(-) T(-) A(-) C(-) (-) 10T/10T D2b1/022457 KN79 D2a1b/006841* C(-) A(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T

D2b1/022457

D2b1/022457 KT80

a

HG82 D2a1b/006841*

D2a1b/006841*

C(-) A(-) C(-) T(-) A(-) G(-) A(+) C(+) C(+)

C(+)

G(+) T(+) T(-)

G(+) T(+)

T(+)

T(+)

12A

12A

C(-) 12A

12A

A(-)/G(+) GTC/GTCdel 10T/10T

10T/10T

T(-) G(-) G(-)

G(-)

10T/10T

10T/10T D2b1/022457 TK83 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 CB84 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 NG85 D2a1b/006841* C(-) C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A G(-) 12A 10T/10T C A(-) T(-) C C T G(-) T(-) T(-) A(-) C(-) (-) 10T/10T D2b1/022457 FS86 D2a1b/006841* C(-) A(-) C T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) C C 10T/10T D2b1/022457 AT87 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A G(-) 12A 10T/10T C A(-) T(-) A(-) C T G(-) T(-) T(-) A(-) C(-) (-) 10T/10T D2b1/022457 IR89 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) 10T/10T D2b1/022457 TK90 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) 10T/10T D2b1/022457 ST91 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 SAG92 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) 10T/10T D2b1/022457 TK93 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK94 D2a1b/006841* C(-) C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK95 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 NG96 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 ST97 D2a1b/006841* C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 ME98 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A G(-) 12A 10T/10T C A(-) T(-) A(-) C T G(-) T(-) T(-) A(-) C(-) (-) 10T/10T D2b1/022457 MG99 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 KN100 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 KN101 D2a1b/006841* C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 SN102 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 NG103 D2a1b/006841* C(-) A(-) af2629 + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) T(-) (-) 10T/10T D2b1/022457 NS104 D2a1b/006841* + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) T(-) 10T/10T

Page 26: Assignment of Y-chromosomal SNPs found in Japanese Naitoh, … · 2016. 1. 29. · Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal haplogroup tree Sae

D2b1/022457 KC105b D2a1b/006841* C(-) A(-) C(+) G(+) T(+) T(+) 12A C(-) 12A 10T/10T G(-) 10T/10T

D2b1/022457 TK106 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 CB107 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) 10T/10T D2b1/022457 NN108 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) T(-) (-) 10T/10T D2b1/022457 ST109 D2a1b/006841* C(-) A(-) + C(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK110 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK112 D2a1b/006841* C(-) A(-) + G(+) T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 SHG113 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 TK114 D2a1b/006841* C(-) C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T (-) D2b1/022457 KN115 D2a1b/006841* C(-) A(-) + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C A(-) C T G(-) T(-) (-) 10T/10T D2b1/022457 TK117 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T 10T/10T D2b1/022457 CB77 D2a1b/006841* C(+) G(+) T(+) T(+) 12A 12A 10T/10T G(-) 10T/10T D2b1/022457 ST111 D2a1b/006841* + T(+) C(+) G(+) T(+) T(+) 12A 12A 10T/10T C C T G(-) 10T/10T D2b1/022457 32 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 33 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 34 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 35 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 36 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 37 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 38 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 39 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 40 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 41 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 42 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 43 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 44 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 45 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 46 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 47 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 48 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 50 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 51 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 52 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 53 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 54 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 55 D2a1b/006841* T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 56 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 57 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 59 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 60 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T D2b1/022457 61 D2a1b/006841* G(+) T(+) 12A 12A 10T/10T 10T/10T

D2b1/022457 ST116b D2a1b/119166-11A C(-) C(-) C(-) A(-) A(-) + T(+) C(+) G(+) T(+) T(+) 11A G(-) C(-) 11A 10T/10T C A(-) T(-) C T G(-) T(-) T(-) A(-) C(-) (-) 10T/10T

D2b1/022457 49 D2a1b/119166-111A G(+) T(+) 11A 11A 10T/10T 10T/10T D2b* MG36 D2a/022456 + C(+) G(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T D2b* GF37 D2a/022456 C(-) G(-) + C(+) G(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T T(-) G(-) C C T G(-) 10T/10T D2b* ST39 D2a/022456 T(+) T(-) C 12A G(-) G(+) 12A 10T/10T G(-) 10T/10T D2b* KN40 D2a/022456 + C(+) G(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T D2b* TG42 D2a/022456 + C(+) G(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T

D2b* TG45b D2a/022456 C(-) A(-) + C(+) G(+) T(+) T(-) C C(-) 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T

D2b* AM46 D2a/022456 + C(+) G(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) T(-) 10T/10T D2b* HK50 D2a/022456 C(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* WK51 D2a/022456 C(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* CB52 D2a/022456 C(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* TK53 D2a/022456 A(-) C(+) T(+) T(-) C(-) 12A G(-) G(-) G(+) 12A 10T/10T G(-) 10T/10T D2b* CB54 D2a/022456 C(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) 10T/10T D2b* TK57 D2a/022456 C(-) C(+) T(+) T(-) C 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T C (-) (-) G(-) 10T/10T D2b* 24 D2a/022456 T(+) T(-) 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T 10T/10T D2b* 25 D2a/022456 T(+) T(-) 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T 10T/10T D2b* 26 D2a/022456 T(+) T(-) 12A G(-) G(+) 12A A(-)/G(+) GTC/GTCdel 10T/10T 10T/10T D2b* TG38 D2a/119166-11A + C(+) T(+) T(-) C 11A G(-) G(+) 11A A(-)/G(+) GTC/GTCdel 10T/10T C C T G(-) 10T/10T

D2b* SO47 D2a/119167/119167-

40rec * + C(+) G(+) T(+) T(-) C 12A G(-) C(-) 12A A(-) GTC 10T/10T C C T G(-) 10T/10T

D2b* 29 D2a/119167/119167-

40rec * T(+) T(-) 12A G(-) C(-) 12A A(-) GTC 10T/10T 10T/10T

D2b* CB48a D2a/75888-GC C(-) C(-) A(-) G(-) A(+) C(+) C(+) T(+) T(-) C C(-) 12A G(-) C(-) 12A A(-) GTC

T8/insGC/ 10T

T(-) G(-) G(-) T8/insGC

/10T E E

Malay 4 Malay 5

E E

C(-) C(-)

C(-) C(-)

+ +

A(+) A(+)

C(+) C(+)

A(-)/G(+) GTC/GTCdel A(-) GTC

A(+) A(+)

T(-) T(-)

G(-) G(-)

F* Malay 6 F* C(-) - G(-) A(-)/G(+) GTC/GTCdel T(+) G(+) A(+) C N/O OS118 N1* C(-) - A(-) C 12A 12A 10T/10T G (+) CA(+) (-) C(-) T(-) (-) A(-) T(-) C(-) C T G(-) T(-) T(-) (-) 10T/10T (-)

N/O AT119a N1* C(-) C(-) C(-) A(-) G(-) - T(-) G(-) A(-) C C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) G (+) CA(+) (-) C(-) T(-) (-) A(-) T(-) C(-) C T G(-) T(-) T(-) T(-) (-) 10T/10T (-)

O1* FS120 O1a*(xO1a2) - A(-) C 12A 12A 10T/10T G 5del(+) C(+) C(-) T(-) T(-) C(-) C T G(-) T(-) T(-) 10T/10T O1* CB121 O1a*(xO1a2) - A(-) C 12A 12A 10T/10T G 5del(+) C(+) C(-) T(-) T(-) C(-) C T G(-) T(-) 10T/10T

O1* AC122a O1a*(xO1a2) C(-) A(-) T(-) G(-) C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) C(+) C(-) T(-) G(-) 10T/10T

O1* AM123 O1a*(xO1a2) 12A 12A 10T/10T C(+) C(-) T(-) G(-) 10T/10T O1* HS124 O1a*(xO1a2) C(-) C(-) G(-) - T(-) A(-) A(-) T(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) G 5del(+) C(+) C(-) T(-) T(-) C(-) C T G(-) T(-) T(-) (-) 10T/10T O1* TT125 O1a*(xO1a2) C(-) - A(-) C 12A 12A 10T/10T T(+) G 5del(+) C(+) C(-) T(-) T(-) C(-) C T G(-) T(-) T(-) 10T/10T O1* OY126 O1a*(xO1a2) - A(-) C 12A 12A 10T/10T G 5del(+) C(+) C(-) T(-) T(-) C(-) C T G(-) T(-) 10T/10T O1* ST127 O1a*(xO1a2) 12A 12A 10T/10T C(+) C(-) T(-) G(-) 10T/10T

O1* CB128b O1a*(xO1a2) C(-) C(-) A(-) C(-) 12A C(-) 12A 10T/10T C(+) C(-) T(-) G(-) 10T/10T

O2a* HK129a O2a* C(-) C(-) A(-) G(-) - T(-) G(-) A(-) C C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T T(+) G(+) A(+) G T(-) 5del(+) A(-) C(+) T(+) A(-) C T G(-) T(-) T(-) (-) 10T/10T (-)

O2a* EH130 O2a* C(-) G(-) - T(-) A(-) C F 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T T(+) G(+) A(+) G T(-) 5del(+) A(-) C(+) T(+) A(-) C T G(-) T(-) T(-) 10T/10T

O2b* YGU131 O2b* C(-) - A(-) C 12A 12A 10T/10T G T G G(-) T(-) T(-) 10T/10T O2b* TK132 O2b* - A(-) C 12A 12A 10T/10T G T G G(-) T(-) T(-) 10T/10T O2b* CB133 O2b* - C 12A 12A 10T/10T G T G G(-) T(-) 10T/10T O2b* CB134 O2b* - C 12A 12A 10T/10T G T G G(-) T(-) T(-) 10T/10T

O2b* OY135a O2b* C(-) C(-) A(-) G(-) T(-) G(-) C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) T G(-) T(-) (-) 10T/10T

O2b* EH136b O2b* C(-) C(-) C(-) A(-) - T(-) A(-) C T(-) C C(-) 12A C(-) 12A 10T/10T G 5del(+) A(-) C(+) T G G(-) T(-) T(-) (-) 10T/10T

O2b* AT137 O2b* - C 12A 12A 10T/10T G T G G(-) T(-) 10T/10T O2b* HK138 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* WK139 O2b* - T(-) A(-) A(-) T(-) C 12A 12A 10T/10T G T G G(-) T(-) T(-) 10T/10T O2b* NG140 O2b* - T(-) C C(-) 12A 12A 10T/10T A(+) G T G G(-) T(-) T(-) 10T/10T O2b* CB141 O2b* 12A 12A 10T/10T T G(-) (-) T(-) A(-) C(-) 10T/10T O2b* FS142 O2b* C(-) G(-) - A(-) C 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) G T G(-) T(-) T(-) 10T/10T O2b* HG143 O2b* - C 12A 12A 10T/10T G T G G(-) T(-) T(-) 10T/10T O2b* AC144 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* SO145 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* CB146 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* KM147 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* TK148 O2b* 12A 12A 10T/10T T G(-) T(-) 10T/10T O2b* CB149 O2b* 12A 12A 10T/10T T G(-) T(-) (-) 10T/10T

O2b* ST150b O2b* C(-) C(-) C(-) C(-) A(-) A(-) - T(-) A(-) C C(-) 12A C(-) 12A 10T/10T G 5del(+) A(-) T G G(-) T(-) T(-) (-) 10T/10T

O2b* AC151 O2b* C(-) C(-) C(-) A(-) - T(-) A(-) C C(-) 12A 12A 10T/10T G 5del(+) A(-) C(+) T G G(-) T(-) (-) 10T/10T

O2b* KN152a O2b*(rare type) C(-) C(-) A(-) G(-) T(-) G(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) T G(-) T(-) 10T/10T

O2b1 TK153 O2b1 - C C(-) 12A 12A 10T/10T G T G T(-) T(-) 10T/10T

O2b1 NN154a O2b1 C(-) C(-) A(-) G(-) T(-) G(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) T ,C(+) T(-) 10T/10T

O2b1 FS155 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 FS156 O2b1 C(-) - C C(-) 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 MG157 O2b1 - C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 ME158 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 NN159 O2b1 - A(-) C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T

O2b1 CB160b O2b1 C(-) A(-) - C C(-) 12A C(-) 12A 10T/10T G T G T(-) T(-) 10T/10T

O2b1 TK161 O2b1 - C 12A 12A 10T/10T G T G C(+) T(-) 10T/10T O2b1 IK162 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 SO165 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 CB166 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 ST167 O2b1 - A(-) C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 OI168 O2b1 - A(-) C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 KN169 O2b1 - A(-) C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 OS170 O2b1 - C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T O2b1 SO171 O2b1 - C 12A 12A 10T/10T G T G C(+) T(-) 10T/10T O2b1 GM172 O2b1 12A 12A 10T/10T T C(+) T(-) 10T/10T O2b1 TK173 O2b1 - C 12A 12A 10T/10T G T G C(+) T(-) 10T/10T O2b1 CB174 O2b1 - A(-) T(-) C 12A 12A 10T/10T G T G C(+) T(-) T(-) 10T/10T

O2b1 IK175b O2b1 C(-) A(-) C(-) C(-) C(-) A(-) G(-) C(-) T(-) A(-) G(-) - T(-) C C(-) 12A G(-) C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(-) G(+) A(+) C (-) C(-) T(-) 5del(+) A(-) T(-) C(+) T G C(+) T(-) (-) T(-) T(-) A(-) C(-) (-) 10T/10T (-) C(-)

O2b1 TK176 O2b1 12A 12A 10T/10T T C(+) 10T/10T

Page 27: Assignment of Y-chromosomal SNPs found in Japanese Naitoh, … · 2016. 1. 29. · Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal haplogroup tree Sae

O2b1

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1

TK210b

SO177 CB178 KT179 NN180 CB181 KN182 NG183 OY184 TK185 TK186 TK187 KN188 SN189 KN190 ME191 NN192 NN193

SO194b

TK195 CB196 CB197 TK198 GM199 TY200 TK201 HS202 AM203 MG204 HG207 ST208

WK209b

TK211 CB213 OI214 KM215 ON216 TK217 SO218

TK163b

YN205 TK206 GM212

O2b*

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1 O2b1 O2b1 O2b1 O2b1

O2b1

O2b1 O2b1 O2b1

C(-)

C(-)

C(-) C(-) C(-)

C(-)

C(-)

C(-)

A(-) A(-)

A(-)

A(-)

A(-)

G(-)

-

-

--

---

---

----

-

-------

-

-

----

-

T(-)

T(-)

T(-) A(-)

C

A(-)

A(-)

A(-) A(-)

A(-) A(-) A(-)

A(-)

A(-)

A(-) A(-) A(-) A(-)

A(-)

A(-)

C

C

C C(-) C

C C C

C C C

C C C(-) C C

C

C C C(-) C C C C C

C C(-)

C

C C C C

C

C(-)

C(-)

C(-)

C(-)

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A

C(-)

C(-)

C(-)

C(-)

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A 12A 12A

12A

12A 12A 12A

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T

A(+)

A(+)

G

G

G G

G G G

G G G

G G G G

G

G G G G G G G

G

G

G G G G

G

A(-) C(+)

C(+)

T

T T T T T T T T T T T T T T T T T

T

T T T T T T T T T T T T

T

T T T T T T T

T

T T T

G

G

G G

G G G

G G G

G G G G

G

G G G G G G G

G

G

G G G G

G

C(+)

C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+)

C(+)

C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+) C(+)

C(+)

C(+) C(+) C(+) C(+) C(+) C(+) C(+)

C(+)

C(+) C(+) C(+)

T(-)

T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-) T(-)

T(-)

T(-) T(-) T(-)

T(-) T(-) T(-) T(-) T(-) T(-) T(-)

T(-)

T(-) T(-) T(-) T(-) T(-) T(-) T(-)

T(-)

T(-) T(-) T(-)

T(-)

T(-)

T(-) T(-)

T(-) T(-) T(-)

T(-) T(-)

T(-) T(-) T(-)

T(-)

T(-) T(-) T(-) T(-) T(-) T(-)

T(-)

T(-) T(-)

(-) 10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T

O2b1 CB164 O2b1 12A 12A 10T/10T T C(+) 10T/10T

O3* MG219 O3* C(-) C C A(-) G(-) - T(-) A(-) A(-) T(-) C C(-) 12A 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) G 5del(+) A(-) T(-) C T G(-) C(+) (-) T(-) T(-) A(-) C(-) (-) 10T/10T (-)

O3* TG220a O3* C(-) C(-) A(-) G(-) T(-) G(-) C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) C G(-) C(+) (-) T(-) T(-) A(-) C(-) (-) 10T/10T (-)

O3c*(LINE1+) TK221a O3* C(-) C(-) A(-) G(-) - T(-) G(-) C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) C T G(-) C(+) (-) T(-) T(-) A(-) C(-) (-) 10T/10T

O3/021354* O3/021354* O3/021354*

O3/021354*

O3/021354* O3/021354* O3/021354* O3/021354* O3/021354* O3/021354* O3/021354*

CB232 TY233 KG235

CB236b

TT237 TK238 TK239 HO240 109 111 112

O3a3* O3a3* O3a3*

O3a3*

O3a3* O3a3* O3a3* O3a3* O3a3* O3a3* O3a3*

C(-)

C(-)

C(-) A(-)

G(-) --

-

--

T(-) T(-) T(-)

T(-)

T(-) T(-) T(-) T(-)

A(-) A(-)

A(-)

A(-) A(-)

C C

C

C C C(-)

C(-)

12A 12A 12A

12A

12A 12A 12A 12A 12A 12A

12A

C(-)

12A 12A 12A

12A

12A 12A 12A 12A 12A 12A

12A

A(-)/G(+) GTC/GTCdel 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

G(+) A(+)

A(+)

G G

G

G G

5del(+)

5del(+)

5del(+) 5del(+)

C C C

C

C C C

T T

T

T T

G(-) G(-) G(-)

G(-)

G(-) G(-) G(-) G(-)

C(+) C(+) C(+)

C(+)

C(+) C(+) C(+) C(+)

(-) (-) (-)

(-)

(-) (-) (-) (-)

T(-) T(-) T(-)

T(-)

T(-) T(-) T(-) T(-)

C(+) C(+) C(+)

C(+)

C(+) C(+) C(+) C(+) C(+) C(+) C(+)

A(-) A(-) A(-)

A(-)

A(-) A(-) A(-) A(-) A(-) A(-)

C(-) C(-) C(-)

C(-)

C(-) C(-) C(-) C(-) C(-) C(-)

(-) (-) (-)

(-)

(-) (-) (-) (-) (-) (-) (-)

10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

O3e* O3e* O3e*

SO244 115 117

O3a3c* O3a3c* O3a3c*

12A 12A 12A

12A 12A 12A

10T/10T 10T/10T 10T/10T

C G(-) C(+) C(+) delG(+) delG(+) delG(+)

10T/10T 10T/10T 10T/10T

(-)

O3e*

O3e*

O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e* O3e*

TY243a O3a3c/075888-9T/10T*

TG245b O3a3c/075888-9T/10T*

TK246 O3a3c/075888-9T/10T*

TK248 O3a3c/075888-9T/10T*

IR249 O3a3c/075888-9T/10T*

IK251 O3a3c/075888-9T/10T*

113 O3a3c/075888-9T/10T* 114 O3a3c/075888-9T/10T* 116 O3a3c/075888-9T/10T* 120 O3a3c/075888-9T/10T* 123 O3a3c/075888-9T/10T*

SO247 O3a3c/075888-9T/9T

SO250 O3a3c/075888-9T/9T

116 O3a3c/075888-9T/9T 119 O3a3c/075888-9T/9T 121 O3a3c/075888-9T/9T 122 O3a3c/075888-9T/9T

C(-)

C(-)

C(-)

C(-)

A(-)

A(-)

G(-)

G(-) -

---

--

T(-)

T(-)

G(-)

A(-)

A(-) A(-) A(-)

A(-) A(-)

C(-)

C

C C(-) C C

C C(-) C

C(-)

12A

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

C(-)

C(-)

12A

12A

12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A 12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

9T/10T

9T/10T

9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T

9T/9T 9T/9T 9T/9T 9T/9T 9T/9T 9T/9T

G(+)

G(+)

A(+)

A(+)

A(+)

G

G G G

G G

5del(+)

5del(+) 5del(+) 5del(+)

5del(+) 5del(+)

A(-) T(-)

C

C

C C C

C C

T

T T T

T T

G(-)

G(-)

G(-) G(-) G(-) G(-)

G(-) G(-)

C(+)

C(+)

C(+) C(+) C(+) C(+)

C(+) C(+)

(-)

(-) (-)

(-)

T(-)

T(-) T(-)

T(-)

C(+)

C(+)

C(+) C(+) C(+) C(+)

C(+) C(+)

A(-)

A(-)

A(-)

C(-) delG(+)

C(-) delG(+)

C(-) delG(+) C(-) delG(+) C(-) delG(+)

delG(+) delG(+) delG(+) delG(+) delG(+) delG(+)

C(-) delG(+) C(-) delG(+)

delG(+) delG(+) delG(+) delG(+)

9T/10T

9T/10T

9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T 9T/10T

9T/9T 9T/9T 9T/9T 9T/9T 9T/9T 9T/9T

(-)

(-)

(-) (-) (-) (-)

(-) (-)

C(-)

C(-)

C(-)

O3e1* O3e1* O3e1*

YN252 TK253 AC254

O3a3c1* O3a3c1* O3a3c1*

---

A(-) A(-) A(-)

C C C

12A 12A 12A

12A 12A 12A

10T/10T 10T/10T 10T/10T

G G G

5del(+) 5del(+) 5del(+)

C C C

T T T

G(-) G(-) G(-)

C(+) C(+) C(+)

(-) (-) (-)

T(-) T(-) T(-)

C(+) C(+)

A(-)

A(-)

C(-) delG(+) C(-) delG(+)

delG(+)

10T/10T 10T/10T 10T/10T

4del(+) 4del(+)

C(-) C(-) C(-)

O3e1*

O3e1* O3e1* O3e1* O3e1* O3e1* O3e1*

O3e1*

O3e1* O3e1* O3e1* O3e1* O3e1* O3e1*

HS255a

CB256 CB257 GF258 SO259 TK260 TK261

TK262b

124 125 126 127 128 130

O3a3c1*

O3a3c1* O3a3c1* O3a3c1* O3a3c1* O3a3c1* O3a3c1*

O3a3c1*

O3a3c1* O3a3c1* O3a3c1* O3a3c1* O3a3c1* O3a3c1*

C(-)

C(-)

C(-) C(-)

C(-)

C(-) A(-)

A(-)

A(-)

G(-)

G(-) --

--

-

T(-) G(-)

T(-)

T(-)

A(-) A(-)

A(-) A(-)

A(-)

T(-)

T(-)

C(-)

C C

C C

C C(-)

12A

12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A

12A

C(-)

C(-)

12A

12A 12A 12A 12A 12A 12A

12A

12A 12A 12A 12A 12A

12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

G(+)

G(+)

A(+)

A(+) G G

G G

G

5del(+) 5del(+)

5del(+) 5del(+)

A(-) C(-)

T(-)

C

C C C C C C

C

T T

T T

T

G(-)

G(-) G(-) G(-) G(-) G(-) G(-)

G(-)

C(+)

C(+) C(+) C(+) C(+) C(+) C(+)

C(+)

(-) (-)

C(+)

C(+) C(+) C(+) C(+) C(+) C(+)

C(+)

delG(+)

C(-) delG(+) C(-) delG(+)

delG(+) C(-) delG(+) C(-) delG(+)

delG(+)

C(-) delG(+)

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

10T/10T

10T/10T 10T/10T 10T/10T 10T/10T 10T/10T 10T/10T

4del(+)

4del(+) 4del(+) 4del(+) 4del(+) 4del(+) 4del(+)

4del(+)

4del(+) 4del(+) 4del(+) 4del(+) 4del(+) 4del(+)

C(-)

C(-) C(-) C(-) C(-) C(-) C(-)

C(-)

C(-) C(-) C(-) C(-) C(-) C(-)

O3/021354* YGU234a O3a3*/8425+5 C(-) C(-) A(-) G(-) T(-) G(-) C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T G(+) A(+) C G(-) C(+) (-) T(-) C(+) A(-) C(-) (-) 10T/10T (-)

O3/021354* O3/021354*

O3/021354*

TK242 110

EH241b

O3a3/119166-13A O3a3/119166-13A

O3a3*/008002 C(-) A(-) -

T(-)

T(-) G(-) A(-) C C(-)

13A 13A

13A C(-)

13A 13A

13A

10T/10T 10T/10T

10T/10T

G

G 5del(+) A(-)

T(-) C

C T

G(-)

G(-)

C(+)

C(+)

(-)

(-)

T(-)

T(-)

C(+) C(+)

C(+)

A(-) A(-)

A(-)

C(-) C(-)

C(-)

(-) (-)

(-)

10T/10T 10T/10T

10T/10T

(-)

(-)

C(-)

C(-)

O3/LINE1 del O3/002611 O3/002611

NN229 106 107

O3a4* O3a4* O3a4*

- A(-) C 12A 12A 12A

12A 12A 12A

10T/10T 10T/10T 10T/10T

G 5del(+) C T G(-) C(+) (-) T(-) T(-) A(-) C(-) (-) 10T/10T 10T/10T 10T/10T

O3/002611* AC222 O3a4/037852 C(-) - A(-) C 12A 12A 10T/10T G 5del(+) C T G(-) C(+) (-) T(-) T(-) A(-) C(-) (-) 10T/10T

O3/002611*

O3/002611*

O3/LINE1 del

O3/LINE1 del O3/LINE1 del

TK223a

HO224

EH225b

CB226 TK227

O3a4/037852

O3a4/037852

O3a4/037852

O3a4/037852 O3a4/037852

C(-)

C(-)

C(-)

C(-)

A(-)

A(-)

G(-)

G(-)

-

-

--

T(-) G(-)

A(-)

A(-)

A(-) A(-)

C(-)

C

C

C C

C(-)

12A

12A

12A

12A 12A

C(-)

C(-)

12A

12A

12A

12A 12A

A(-)/G(+) GTC/GTCdel

A(-)/G(+) GTC/GTCdel

10T/10T

10T/10T

10T/10T

10T/10T 10T/10T

G(+)

G(+)

A(+)

A(+)

G

G

G G

5del(+)

5del(+)

5del(+) 5del(+)

C

C

C

C C

T

T

T T

G(-)

G(-)

G(-)

G(-) G(-)

C(+)

C(+)

C(+)

C(+) C(+)

(-)

(-)

(-)

(-) (-)

T(-)

T(-)

T(-)

T(-) T(-)

T(-)

T(-)

T(-)

T(-) T(-)

A(-)

A(-)

A(-)

A(-) A(-)

C(-)

C(-)

C(-)

C(-) C(-)

(-)

(-)

(-)

(-) (-)

10T/10T

10T/10T

10T/10T

10T/10T 10T/10T

O3/LINE1 del

O3/LINE1 del O3/LINE1 del

O3/LINE1 del

KG228a

SN230 OY231 108

O3a4/037852

O3a4/037852 O3a4/037852

O3a4/037852

C(-)

C(-) C(-) C(-)

C(-)

A(-)

A(-) G(-)

-

T(-) G(-)

T(-) A(-)

C(-)

C

12A

12A 12A

12A

C(-) 12A

12A 12A

12A

A(-)/G(+) GTC/GTCdel 10T/10T

10T/10T 10T/10T

10T/10T

G(+) A(+)

G 5del(+) A(-) T(-)

C

C C T

G(-)

G(-) G(-)

C(+)

C(+) C(+)

(-)

(-) (-)

T(-)

T(-) T(-)

T(-)

T(-) T(-)

A(-)

A(-) A(-)

C(-)

C(-) C(-)

(-)

(-) (-)

10T/10T

10T/10T 10T/10T

10T/10T (-)

Q1 ST263a Q1 C(-) C(-) C(-) A(-) G(-) - T(-) G(-) A(-) C C(-) 12A C(-) 12A A(-)/G(+) GTC/GTCdel 10T/10T T(+) G(+) A(+) G (-) (-) A(-) C(-) T(-) T(-) C(-) A(-) C T G(-) T(-) T 10T/10T

a: 21 samples for the first screening selected one sample each from C1, C3*, D1, D2a, D2b*, D2b1/M125, D2b1/022457, N/O, O1*, O2a*, O2b*, O2b* (rare type), O2b1, O3*, O3c* (LINE1+), O3/002611, O3/LINE1 del (LINE1-), O3/021354*, O3e*, O3e1*, and Q1 haplogroup according to the YCC 2003

classification. b: 29 different samples elected from the basic set which ncluded those carrying different Y-STR haplotype

characteristics within the haplogroups.

Page 28: Assignment of Y-chromosomal SNPs found in Japanese Naitoh, … · 2016. 1. 29. · Assignment of Y-chromosomal SNPs found in Japanese population to Y-chromosomal haplogroup tree Sae

P Q clade

O3a3/84 25+5

O3a3/119 166-13A

O3a3/00 8002

O3a4* O3a4* - P Q1* Q1a1 Sample Y-STR

8425+5 119166 008002 00261

1 037852 LINE1 M74 P36 M120 No. DYS19 3892 3891 390 rep1 rep2 391 392 393 385 385 156 388 434 435 436 437 rep1 rep2 rep3 438 rep ** 439

1 1 1 2 ↓ 12A A(-) FS1

b C1* 13 30 13 23 8 10 10 11 13 13 15 12 13 9 11 12 14 8 2 4 11 (-) 13

12A C(-) NN2 C1* 13 29 13 24 8 11 10 11 14 15 15 11 13 9 11 12 14 10 13 12A C(-) WK3 C1* 13 29 13 24 8 11 10 11 15 13 15 11 13 9 11 12 14 8 2 4 10 (-) 14 12A ST4 C1* 13 29 13 24 8 11 10 11 14 13 15 11 13 9 11 12 14 8 2 4 10 (-) 13

C 12A G(-) SO5a C1* 13 29 13 24 8 11 10 11 14 13 15 11 13 7 11 12 14 8 2 4 10 14

12A 12A

CB6 2

C1* C1*

14 31 13 24 8 11 10 11 14 13 16 11 13 9 11 12 14 8 2 4 10 (-) 14

12A 3 C1* 12A 4 C1* 12A 5 C1* 12A 6 C1* 12A 7 C1* 12A 12A

8 1

C1*

C1 *

C 12A A(-) C(-) G(-) KG7b C3* 16 29 13 25 10 10 10 11 13 10 12 11 14 11 11 12 14 8 2 4 10 (-) 13

C 12A A(-) G(-) CB8b C3/64562+13 15 29 13 25 8 12 10 15 14 12 12 11 13 11 11 12 14 8 2 4 10 (-) 11

12A C(-) NG9 C3/-0613-27 15 28 13 23 8 10 10 11 15 10 19 11 12 11 11 12 14 8 2 4 10 A(+) 12

C 12A G(-) IR13a C3/-2613-27 16 30 14 23 8 10 10 11 14 10 20 11 12 11 11 12 14 8 2 4 10 A(+) 12

12A NN10 C3/-2613-27 15 30 13 23 8 10 10 11 14 11 18 11 13 11 11 12 14 8 2 4 10 A(+) 11 12A C(-) CB11 C3/-2613-27 16 28 13 23 8 10 10 11 14 11 18 11 13 10 11 12 14 8 2 4 10 A(+) 10 12A C(-) HO12 C3/-2613-27 16 30 14 23 8 10 10 11 14 13 15 11 13 10 11 12 14 8 2 4 10 A(+) 11 12A 12A 12A 12A 12A

12A 12A

IK14 10 11 12 13 14 15 16 17

C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27 C3/-2613-27

16 31 13 23 8 10 10 11 14 11 16 11 13 11 11 12 14 8 2 4 10 A(+) 11

12A 18 C3/-2613-27 Malay 1 C* Malay 2 C* Malay 3 C/37816-80

C 12A C(-) G(-) MG15a D1 15 30 13 25 9 11 10 11 12 13 15 12 12 9 11 12 14 8 2 4 10 (-) 12

12A 19 D1 12A C(-) TK16 D2* 15 29 13 24 9 10 10 11 11 12 17 11 12 10 11 12 14 8 2 4 11 (-) 12 12A C(-) SAG17 D2* 15 31 13 23 9 9 10 12 12 13 17 11 12 9 11 12 14 8 2 4 11 (-) 12 12A CB18 D2* 15 31 14 23 9 9 10 12 13 13 17 11 12 9 11 12 14 8 2 4 11 (-) 12

C 12A G(-) CB19a D2* 15 32 14 26 9 12 10 11 12 12 17 11 12 9 12 12 14 8 2 4 11 13

12A A(-) C(-) KN20b D2* 15 31 14 25 9 11 11 11 13 13 17 11 12 9 11 12 14 8 2 4 11 (-) 12

12A C TK21 D2* 15 31 14 26 9 12 10 11 12 12 18 11 12 9 12 12 15 9 2 4 11 14 12A CB22 D2* 15 31 14 26 9 12 10 11 12 12 17 11 12 9 12 12 14 11 13

12A A(-) TK23b D2* 15 32 13 25 9 11 10 11 13 12 12 11 12 9 11 12 14 11 11

12A C(-) NN24 D2* 15 32 14 23 9 9 10 12 12 13 17 11 12 9 11 12 14 8 2 4 11 (-) 12 12A C(-) TK25 D2* 15 32 14 23 9 9 10 12 12 13 17 11 12 9 11 12 14 8 2 4 11 (-) 12 12A

12A A(-)

C(-) OY27

KG28b

D2*

D2*

16 30 13 24 9 10 10 11 13

16 31 14 24 9 10 10 10 13

13 18

12 19

11 14 9 11 12 14 8 2 4 10

11 14 9 11 12 14 8 2 4 10

(-)

(-)

14

12

12A

12A A(-)

C(-)

C(-)

IR29

TK26b

D2*

D2*

16 32 14 24 9 10 10 11 13

15 31 14 24 9 10 10 12 13

12 20

12 17

11 14 9 11 12 14 8 2 4 10

11 13 9 11 12 14 8 2 4 10

C

(-)

13

12

C 12A C(-) CB30 D2* 17 31 14 24 9 10 10 11 13 13 18 11 14 9 11 12 14 8 2 4 10 13

12A C(-) HG31 D2* 17 31 14 24 9 10 10 11 13 13 17 11 14 9 11 12 14 8 2 4 10 (-) 13

12A A(-) C(-) CB32b D2a* 16 29 13 26 9 12 10 11 13 16 16 11 12 10 11 12 14 8 2 4 10 14

12A A(-) CB33b D2a* 16 29 13 23 9 9 10 11 14 14 17 11 12 9 11 12 14 10 12

12A C(-) NN34 D2a* 16 31 14 25 9 11 10 11 13 14 19 11 12 10 11 12 14 8 2 4 10 (-) 12 12A C(-) OI35 D2a* 15 30 14 23 9 9 10 11 13 14 14 11 12 10 11 12 14 8 2 4 10 (-) 12 12A C(-) WK41 D2a* 16 30 13 25 9 11 10 11 13 14 18 11 12 10 11 12 14 8 2 4 10 11 12A C(-) HO43 D2a* 15 29 13 23 9 9 10 11 13 15 18 11 12 10 11 12 14 9 13 12A C(-) OY44 D2a* 16 29 13 23 9 9 10 11 14 14 19 11 12 10 11 12 14 9 12 12A CB49 D2a* 14 30 13 24 9 10 10 11 13 13 17 11 12 10 11 13 14 10 12 12A CB55 D2a* 17 30 14 25 9 11 10 11 13 9 15 11 12 9 12 12 14 10 13 12A CB56 D2a* 15 29 13 23 9 9 10 11 13 16 18 11 12 10 11 12 14 9 12 12A C(-) TK58 D2a* 15 30 13 25 9 11 10 11 13 12 17 11 12 10 11 12 14 8 2 4 10 (-) 13 12A C(-) MG59 D2a* 15 30 13 25 9 11 8 11 13 12 17 11 12 10 11 12 14 8 2 4 10 12 12A CB60 D2a* 17 30 13 25 9 11 10 11 13 16 17 11 12 10 11 12 14 8 2 4 11 (-) 12 12A ST61 D2a* 16 31 14 26 9 12 10 12 13 14 16 11 13 9 11 12 14 10 12 12A 27 D2a* 12A 28 D2a* 12A 30 D2a*

C 12A C(-) G(-) CB62a D2a1*.(xD2a1b) 16 29 13 27 10 12 11 11 14 13 16 11 12 9 11 12 14 8 2 4 11 (-) 12

12A A(-) C(-) G(-) KN63b D2a1*.(xD2a1b) 17 30 13 26 10 11 10 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 12

12A TK81 D2a1b* 17 30 13 24 9 10 10 11 13 14 17 11 12 9 11 12 14 8 2 4 10 12 12A

12A A(-)

C(-)

C(-)

CB65

KN66b

D2a1b/006841*

D2a1b/006841*

16 31 14 24 9 10 10 11 13

16 31 14 24 9 10 11 11 13

13 17

13 17

11 12 9 11 12 14 8 2 4 10

11 12 9 11 12 14 8 2 4 10 (-)

13

11

C 12A HG88 D2a1b/006841* 17 31 14 24 9 10 10 11 13 14 16 11 12 9 11 12 14 10 12 12A KN64 D2a1b/006841* 17 34 15 25 9 11 10 11 13 13 17 11 12 9 11 12 14 11 12 12A

12A A(-)

TK67

GM68b

D2a1b/006841*

D2a1b/006841*

15 31 14 25 9 11 10 11 13

16 31 14 25 9 11 11 11 13

13 17

13 14

11 12 9 11 12 14 8 2 4 10

11 12 9 11 12 14 8 2 4 10

(-)

(-)

12

12

12A CB74 D2a1b/006841* 16 31 14 25 9 11 11 11 13 14 14 11 12 9 11 12 14 10 12 C 12A ME69 D2a1b/006841* 16 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12

12A KM70 D2a1b/006841* 16 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 12 12A AC71 D2a1b/006841* 16 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 12 12A TK72 D2a1b/006841* 16 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 12 12A CB73 D2a1b/006841* 16 31 14 25 9 11 10 11 13 13 18 11 12 9 11 12 14 10 12 12A IR75 D2a1b/006841* 16 31 14 25 9 11 10 11 13 14 18 11 12 9 11 12 14 8 2 4 10 (-) 12 12A TK76 D2a1b/006841* 16 31 14 25 9 11 11 11 13 14 18 11 12 9 11 12 14 10 12 12A A(-) TK78 D2a1b/006841* 17 28 11 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A KN79 D2a1b/006841* 17 30 13 25 9 11 10 11 13 13 16 11 12 9 11 12 14 8 2 4 10 (-) 12

C 12A G(-) KT80a D2a1b/006841* 17 29 13 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 12

12A HG82 D2a1b/006841* 17 30 13 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 13 12A TK83 D2a1b/006841* 17 30 13 25 9 11 10 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 12 12A CB84 D2a1b/006841* 17 30 13 25 9 11 10 11 13 14 18 11 12 9 11 12 14 10 11 12A NG85 D2a1b/006841* 17 30 14 25 9 11 10 12 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A FS86 D2a1b/006841* 17 30 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A C(-) AT87 D2a1b/006841* 17 30 14 25 9 11 10 11 13 14 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A IR89 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 11 12A TK90 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 11 12A ST91 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 10 11 12A SAG92 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A TK93 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A TK94 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A TK95 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 10 12 12A NG96 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 13 9 11 12 14 10 13 12A ST97 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 11 12A C(-) ME98 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 12 12A MG99 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 18 11 12 9 11 12 14 10 12 12A KN100 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 19 11 12 9 11 12 14 10 12 12A KN101 D2a1b/006841* 17 31 14 25 9 11 10 11 13 14 16 11 12 9 11 12 14 8 2 4 10 (-) 12 12A SN102 D2a1b/006841* 17 31 14 25 9 11 10 11 13 14 17 11 12 9 11 12 14 10 12 12A C(-) NG103 D2a1b/006841* 17 31 14 25 9 11 10 11 13 15 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A C(-) NS104 D2a1b/006841* 17 31 14 25 9 11 10 11 13 15 17 11 12 9 11 12 14 8 2 4 10 (-) 12

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12A A(-) KC105b D2a1b/006841* 17 31 14 25 9 11 10 11 13 9 17 11 12 9 11 12 14 10 12

12A C(-) TK106 D2a1b/006841* 17 31 14 25 9 11 10 11 14 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A CB107 D2a1b/006841* 17 31 14 25 9 11 10 11 14 13 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A C(-) NN108 D2a1b/006841* 17 31 14 25 9 11 10 11 14 15 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A ST109 D2a1b/006841* 17 31 14 25 9 11 11 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 12 12A C(-) TK110 D2a1b/006841* 17 32 14 25 9 11 10 11 12 14 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A C(-) TK112 D2a1b/006841* 17 32 15 25 9 11 10 11 13 13 18 11 12 9 11 12 14 8 2 4 10 (-) 12 12A SHG113 D2a1b/006841* 17 31 14 25 9 11 10 11 13 13 17 11 12 9 11 12 14 8 2 4 8 12 12A TK114 D2a1b/006841* 16 31 14 25 9 11 11 11 13 14 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A KN115 D2a1b/006841* 16 32 15 25 9 11 11 11 13 14 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A TK117 D2a1b/006841* 17 32 14 25 9 11 11 11 13 12 17 11 12 9 11 12 14 8 2 4 10 (-) 13 12A CB77 D2a1b/006841* 16 31 14 26 9 12 11 11 13 13 14 11 12 9 11 12 14 10 12 12A ST111 D2a1b/006841* 17 31 14 26 9 12 10 11 13 14 17 11 12 9 11 12 14 8 2 4 10 (-) 12 12A 32 D2a1b/006841* 12A 33 D2a1b/006841* 12A 34 D2a1b/006841* 12A 35 D2a1b/006841* 12A 36 D2a1b/006841* 12A 37 D2a1b/006841* 12A 38 D2a1b/006841* 12A 39 D2a1b/006841* 12A 40 D2a1b/006841* 12A 41 D2a1b/006841* 12A 42 D2a1b/006841* 12A 43 D2a1b/006841* 12A 44 D2a1b/006841* 12A 45 D2a1b/006841* 12A 46 D2a1b/006841* 12A 47 D2a1b/006841* 12A 48 D2a1b/006841* 12A 50 D2a1b/006841* 12A 51 D2a1b/006841* 12A 52 D2a1b/006841* 12A 53 D2a1b/006841* 12A 54 D2a1b/006841* 12A 55 D2a1b/006841* 12A 56 D2a1b/006841* 12A 57 D2a1b/006841* 12A 59 D2a1b/006841* 12A 60 D2a1b/006841* 12A 61 D2a1b/006841*

11A

11A

A(-) ST116b

49 D2a1b/119166-11A

D2a1b/119166-111A

16 32 15 25 9 11 11 11 13 12 19 11 12 9 11 12 14 8 2 4 10 12

12A C(-) MG36 D2a/022456 15 29 13 25 9 11 10 11 13 14 17 11 12 10 11 12 14 8 2 4 10 (-) 11 12A GF37 D2a/022456 15 30 13 25 9 11 10 11 13 14 17 11 12 10 11 12 14 8 2 4 10 12 12A ST39 D2a/022456 15 30 13 25 9 11 10 11 13 15 17 11 12 10 11 12 14 8 2 4 10 12 12A KN40 D2a/022456 15 30 13 26 9 12 10 11 13 13 14 11 12 10 11 12 14 8 2 4 10 (-) 12 12A C(-) TG42 D2a/022456 16 30 13 25 9 11 10 11 12 12 17 11 12 10 11 12 14 8 2 4 10 (-) 13

12A A(-) C(-) TG45b D2a/022456 15 31 13 25 9 11 10 11 13 15 17 11 12 10 11 12 14 8 2 4 10 14

12A C(-) AM46 D2a/022456 15 29 13 25 9 11 10 11 13 13 17 11 13 10 11 12 14 8 2 4 10 (-) 11 12A HK50 D2a/022456 15 31 13 25 9 11 10 11 13 13 18 11 12 10 11 12 14 8 2 4 10 (-) 12 12A WK51 D2a/022456 15 31 14 24 9 10 10 11 13 14 17 11 12 10 11 12 14 10 11 12A CB52 D2a/022456 15 31 14 25 9 11 10 11 13 15 17 11 12 10 11 12 14 10 12 12A TK53 D2a/022456 12A CB54 D2a/022456 17 30 13 25 9 11 10 11 13 13 17 11 11 10 11 12 14 10 12 12A TK57 D2a/022456 15 30 13 25 9 11 10 11 12 15 17 11 12 10 11 12 14 10 12 12A 24 D2a/022456 12A 25 D2a/022456 12A 26 D2a/022456 11A TG38 D2a/119166-11A 15 30 13 25 9 11 10 11 13 14 17 11 12 10 11 12 14 8 2 4 10 (-) 13

12A

12A

C(-) SO47

29

D2a/119167/119167-

40rec *

D2a/119167/119167-

40rec *

17 31 14 25 9 11 10 11 13 14 16 11 12 10 11 12 13 7 2 4 10 12

C 12A G(-) CB48a D2a/75888-GC 17 31 14 25 9 11 10 11 13 14 16 11 12 10 11 12 13 10 12

C Malay 4 E C Malay 5 E

Malay 6 F* 12A C(-) (-) OS118 N1* 13 30 14 22 8 9 10 14 13 11 12 12 13 8 11 12 14 8 2 4 11 (-) 11

C 12A C(-) G(-) (-) AT119a N1* 14 28 13 22 8 9 11 14 13 11 12 12 12 8 11 12 14 8 2 4 10 (-) 10

12A 12A

C(-) C(-)

(-) (-)

FS120 CB121

O1a*(xO1a2) O1a*(xO1a2)

15 15

28 28

12 12

23 24

8 8

10 10 16 13 11 10 14 12

13 13 12 13

12 12 9 11 12 14 12 12 9 11 12 14

8 8

2 2

4 4

10 10

(-) (-)

12 12

C 12A C(-) G(-) (-) AC122a O1a*(xO1a2) 15 28 12 24 8 11 10 14 12 11 13 12 12 9 11 12 14 10 12

12A 12A 12A 12A 12A

C(-) C(-) C(-) C(-) C(-)

(-) (-) (-) (-) (-)

AM123 HS124 TT125 OY126 ST127

O1a*(xO1a2) O1a*(xO1a2) O1a*(xO1a2) O1a*(xO1a2) O1a*(xO1a2)

15 15 15 15 15

29 29 29 29 29

12 12 12 12 12

23 24 24 24 24

8 8 8 8 8

10 10 14 13 11 10 14 14 11 10 14 14 11 10 14 14 11 10 17 13

12 13 12 13 12 13 12 13 12 13

12 12 9 11 12 14 12 12 9 11 12 14 12 12 9 11 12 14 12 12 9 11 12 14 12 12 9 11 12 14

8 8 8

2 2 2

4 4 4

10 10 10 10 10

(-) (-) (-)

13 12 12 12 11

12A A(-) C(-) (-) CB128b O1a*(xO1a2) 15 30 12 24 8 11 10 14 15 12 14 13 12 9 11 12 14 8 2 4 10 (-) 12

C 12A C(-) G(-) HK129a O2a* 15 30 13 25 9 11 11 13 14 13 18 12 12 9 11 12 14 8 2 4 10 (-) 13

C 12A C(-) (-) EH130 O2a* 15 28 13 25 9 11 11 14 14 13 19 12 12 9 11 12 14 8 2 4 10 (-) 11

12A C(-) (-) YGU131 O2b* 16 28 13 23 8 10 10 13 13 11 17 12 12 9 11 12 14 8 2 4 14 12 12A C(-) (-) TK132 O2b* 16 29 14 23 8 10 10 13 13 10 18 12 12 10 11 12 14 8 2 4 14 12 12A C(-) (-) CB133 O2b* 15 27 12 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) CB134 O2b* 15 27 13 23 8 10 10 13 13 10 18 12 12 9 12 12 14 8 2 4 13 (-) 12

C 12A C(-) G(-) (-) OY135a O2b* 15 27 13 23 8 10 10 13 13 10 16 12 12 9 12 12 14 13 13

12A A(-) C(-) EH136b O2b* 15 28 13 23 8 10 10 13 13 10 18 12 10 9 11 12 14 8 2 4 13 (-) 12

12A C(-) (-) AT137 O2b* 15 29 14 23 8 10 11 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) HK138 O2b* 15 30 13 23 8 10 10 13 14 10 19 12 12 9 11 12 14 13 13 12A C(-) (-) WK139 O2b* 16 28 13 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 12

C 12A C(-) (-) NG140 O2b* 16 28 13 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) CB141 O2b* 16 28 13 23 8 10 10 13 13 10 18 12 12 9 11 12 14 13 12 12A C(-) (-) FS142 O2b* 16 29 14 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) HG143 O2b* 16 29 14 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) AC144 O2b* 16 29 14 23 8 10 10 13 13 10 18 12 12 9 11 12 14 13 11 12A C(-) (-) SO145 O2b* 16 29 14 23 8 10 10 13 13 10 19 12 12 9 11 12 14 13 12 12A C(-) (-) CB146 O2b* 16 29 14 24 8 11 10 13 12 10 19 12 12 9 11 12 14 13 12 12A C(-) (-) KM147 O2b* 16 30 15 23 8 10 10 13 13 10 17 12 12 9 11 12 14 13 12 12A C(-) (-) TK148 O2b* 17 29 14 23 8 10 10 13 13 10 19 12 12 9 11 12 14 13 12 12A

12A A(-)

C(-)

C(-)

(-)

(-)

CB149

ST150b

O2b*

O2b*

15

15

28

30

13

14

23

22

8

8

10 10 14 13

9 10 13 13

10 19

10 19

12 13 9 11 12 14

12 12 9 11 12 14 8 2 4

12

13

12

12

12A C(-) (-) AC151 O2b* 15 29 14 23 8 10 10 13 13 9 17 12 12 9 11 12 14 8 2 4 13 12

C 12A C(-) G(-) (-) KN152a O2b*(rare type) 14 31 13 22 8 9 10 14 13 11 18 12 13 9 12 14 14 8 2 4 10 (-) 12

12A C(-) (-) TK153 O2b1 15 29 13 22 8 9 10 13 13 10 21 12 12 9 11 12 14 8 2 4 14 (-) 12

C 12A C(-) G(-) (-) NN154a O2b1 15 29 14 22 8 9 10 13 13 10 16 12 12 9 11 12 14 8 2 4 14 12

12A C(-) (-) FS155 O2b1 15 30 14 22 8 9 10 13 13 10 17 12 12 9 11 12 14 14 12 12A C(-) (-) FS156 O2b1 14 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) MG157 O2b1 14 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 11 12A C(-) (-) ME158 O2b1 14 30 14 22 8 9 10 13 13 10 22 12 12 9 11 12 14 13 12 12A

12A A(-)

C(-)

C(-)

(-)

(-)

NN159

CB160b

O2b1

O2b1

14

15

31

27

15

11

22

22

8

8

9 10 13 13

9 11 13 14

10 19

10 21

12 12 9 11 12 14

12 12 9 11 12 14

8

8

2

2

4

4

13

13

(-) 12

12

12A C(-) (-) TK161 O2b1 15 28 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 11 12A C(-) (-) IK162 O2b1 15 28 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 13 12 12A C(-) (-) SO165 O2b1 15 29 13 22 8 9 10 13 12 10 18 12 12 9 11 12 14 13 12 12A C(-) (-) CB166 O2b1 15 29 13 22 8 9 10 13 13 10 18 12 12 9 11 12 14 13 13 12A C(-) ST167 O2b1 15 29 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) OI168 O2b1 15 29 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 12 12A C(-) (-) KN169 O2b1 15 29 13 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) OS170 O2b1 15 29 13 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) SO171 O2b1 15 29 14 22 8 9 10 13 13 9 19 12 12 9 11 12 14 8 2 4 13 (-) 12 12A C(-) (-) GM172 O2b1 15 29 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 13 12 12A C(-) (-) TK173 O2b1 15 29 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12 12A

12A A(-)

C(-)

C(-)

(-)

(-) G(-) G(-) T(-)

CB174

IK175b

O2b1

O2b1

15

15

29

29

14

14

22

22

8

8

9 10 13 13

9 10 13 13

10 20

10 20

12 12 9 11 12 14

12 12 9 11 12 14

8

8

2

2

4

4

13

13

(-) 12

12

12A C(-) (-) TK176 O2b1 15 29 14 22 8 9 10 13 13 10 21 12 12 9 11 12 14 8 2 4 13 12

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12A A(-) C(-) (-) O2b* 16 29 14 23 8 10 10 14 13 10 18 12 12 9 11 12 14 8 2 4 13 12 TK210b

12A C(-) (-) O2b1 15 29 14 22 8 9 10 13 13 11 20 12 12 9 11 12 14 8 2 4 13 (-) 12SO177 12A C(-) (-) O2b1 15 30 13 22 8 9 10 13 13 10 21 12 12 9 11 12 14 13 12 CB178 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12KT179 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12NN180 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 13 12 CB181 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 11KN182 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 11NG183 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 11OY184 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 13 11 TK185 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12TK186 12A C(-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12TK187 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12KN188 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 13 12 SN189 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 13KN190

C 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12ME191 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12NN192 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12NN193 12A A(-) C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12SO194

b

12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 13 12 TK195 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 13 12 CB196 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 13 12 CB197 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 12TK198 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 14GM199 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 20 13 12 9 11 12 14 8 2 4 13 (-) 12TY200 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 10 21 12 12 9 11 12 14 8 2 4 13 (-) 12TK201 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 11 19 12 12 9 11 12 14 8 2 4 13 (-) 13HS202 12A C(-) (-) O2b1 15 30 14 22 8 9 10 13 13 11 20 12 12 9 11 12 14 8 2 4 13 (-) 12AM203 12A C(-) (-) O2b1 15 30 14 22 8 9 11 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 11MG204 12A C(-) (-) O2b1 15 31 14 22 8 9 10 13 13 10 20 12 12 9 11 12 14 8 2 4 13 (-) 12HG207 12A C(-) (-) O2b1 15 31 14 22 8 9 11 13 13 10 18 12 12 9 11 12 14 13 13 ST208

C 12A A(-) C(-) (-) O2b1 16 29 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 13 (-) 12WK209b

12A C(-) (-) O2b1 16 29 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12TK211 12A C(-) (-) O2b1 16 30 14 22 8 9 10 13 13 10 17 12 12 9 11 12 14 13 12 CB213 12A C(-) (-) O2b1 16 30 15 22 8 9 10 13 13 10 21 12 12 9 11 12 14 8 2 4 13 (-) 12OI214 12A C(-) (-) O2b1 15 29 13 22 8 9 10 13 13 10 19 12 12 9 11 12 14 8 2 4 12 (-) 12KM215 12A C(-) (-) O2b1 15 29 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 8 2 4 12 (-) 12ON216 12A C(-) (-) O2b1 15 29 14 22 8 9 10 13 13 10 18 12 12 9 11 12 14 8 2 4 12 (-) 12TK217 12A C(-) (-) O2b1 15 32 14 22 8 9 10 13 13 10 19 12 12 9 11 12 14 12 12 SO218 12A A(-) C(-) (-) O2b1 15 28 13 23 8 10 10 13 13 10 20 12 12 9 11 14 14 8 2 4 13 12 TK163

b

12A C(-) (-) O2b1 15 30 14 23 8 10 10 13 13 10 21 12 12 9 11 12 14 13 11YN205 12A C(-) (-) O2b1 15 30 14 23 8 10 10 13 13 10 19 12 12 9 11 12 14 13 12TK206 12A C(-) (-) O2b1 16 30 14 23 8 10 10 13 13 10 18 12 12 9 11 12 14 8 2 4 13 (-) 12GM212 12A C(-) (-) O2b1 15 28 13 24 8 11 10 13 13 10 21 12 12 9 11 12 14 13 12CB164 12A C(-) (-) O3* 14 30 14 25 9 11 11 15 12 13 18 12 12 9 12 12 14 8 2 4 11 (-) 12MG219

C 12A C(-) G(-) (-) O3* 14 30 13 24 9 10 11 13 13 14 18 12 13 9 12 12 15 9 2 4 10 (-) 9TG220a

C 12A C(-) G(-) (+) O3* 17 30 14 24 8 11 10 13 13 14 20 13 12 9 12 12 15 10 1 4 10 12TK221a

C 12A A(-) C(-) (-) O3a3* 15 28 12 24 8 11 10 13 12 15 22 13 13 9 12 12 15 10 1 4 10 11CB232 C 12A A(-) C(-) (-) O3a3* 16 28 12 24 8 11 10 13 12 16 19 13 13 9 11 12 15 10 1 4 10 12TY233 C 12A A(-) C(-) (-) O3a3* 16 30 12 23 8 10 10 13 12 14 21 13 12 9 12 12 15 10 1 4 10 11KG235 C 12A A(-) C(-) (-) O3a3* 17 28 12 23 8 10 10 13 12 14 22 13 13 9 12 12 15 10 1 4 10 11CB236

b

C 12A A(-) C(-) (-) O3a3* 17 29 12 23 8 10 10 13 12 14 20 13 13 9 12 12 14 9 1 4 10 (-) 11TT237 C 12A A(-) C(-) (-) O3a3* 17 31 12 24 8 11 10 13 12 15 21 13 13 9 12 12 15 10 1 4 10 11TK238 C 12A A(-) C(-) (-) O3a3* 16 28 12 24 8 11 11 13 12 14 20 13 13 9 12 12 15 10 1 4 9 11 TK239 C 12A A(-) C(-) (-) O3a3* 15 28 12 24 8 11 10 13 12 12 18 13 12 9 11 12 15 10 1 4 9 10 HO240 C 12A A(-) C(-) (-) O3a3*109 C 12A A(-) C(-) (-) O3a3*111 C 12A A(-) O3a3*112

12A C(-) (-) O3a3c* 15 27 12 23 8 10 10 12 13 12 12 13 12 9 11 12 15 10 1 4 10 12SO244 12A O3a3c*115 12A O3a3c*117

C 12A C(-) G(-) (-) O3a3c/075888-9T/10T* 15 27 11 23 8 10 11 12 12 12 16 13 12 9 11 12 15 10 1 4 10 13TY243a

12A A(-) C(-) (-) O3a3c/075888-9T/10T* 15 28 12 23 8 10 11 12 12 13 13 13 12 9 11 12 15 10 1 4 10 13TG245b

C 12A C(-) (-) O3a3c/075888-9T/10T* 15 29 12 23 8 10 10 12 12 11 16 13 12 9 11 12 14 9 1 4 10 (-) 13TK246 12A C(-) (-) O3a3c/075888-9T/10T* 15 30 12 23 8 10 10 12 12 12 16 13 12 9 11 12 16 11 1 4 10 13TK248 12A C(-) O3a3c/075888-9T/10T* 16 27 11 23 8 10 10 12 12 13 16 13 12 9 11 12 15 10 1 4 10 13IR249 12A C(-) (-) O3a3c/075888-9T/10T* 15 28 12 23 8 10 11 12 12 13 13 13 12 9 11 12 15 10 1 4 10 (-) 13IK251 12A 113 O3a3c/075888-9T/10T* 12A 114 O3a3c/075888-9T/10T* 12A 116 O3a3c/075888-9T/10T* 12A 120 O3a3c/075888-9T/10T* 12A 123 O3a3c/075888-9T/10T* 12A C(-) (-) O3a3c/075888-9T/9T 16 28 12 23 8 10 10 12 12 12 18 13 12 9 11 12 15 10 1 4 10 11SO247 12A C(-) (-) O3a3c/075888-9T/9T 15 29 12 22 8 9 10 13 12 12 17 13 12 9 11 12 15 10 1 4 10 (-) 11SO250 12A O3a3c/075888-9T/9T116 12A O3a3c/075888-9T/9T119 12A O3a3c/075888-9T/9T121 12A O3a3c/075888-9T/9T122 12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 19 14 10 9 11 12 15 10 1 4 11 12YN252 12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 15 18 14 10 9 11 12 15 10 1 4 11 11TK253 12A C(-) (-) O3a3c1* 14 28 12 24 8 11 10 14 12 13 19 14 10 9 11 12 15 10 1 4 11 14AC254

C 12A C(-) G(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 18 14 10 9 11 12 14 9 1 4 11 (-) 11HS255a

12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 18 14 10 9 11 12 16 11 1 4 11 12CB256 12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 19 14 10 9 11 12 14 9 1 4 11 (-) 13CB257 12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 19 14 10 9 11 12 15 10 1 4 11 11GF258 12A C(-) (-) O3a3c1* 14 27 11 23 8 10 10 14 12 14 20 14 10 9 11 12 15 10 1 4 11 12SO259 12A C(-) (-) O3a3c1* 14 28 12 24 8 11 10 14 12 13 17 14 10 9 11 12 15 10 1 4 11 12TK260 12A C(-) (-) O3a3c1* 14 29 13 24 8 11 10 14 12 13 18 14 10 9 11 12 15 10 1 4 11 11TK261 12A A(-) C(-) (-) O3a3c1* 15 29 13 24 8 11 10 15 12 12 19 14 10 9 12 12 15 10 1 4 11 13TK262

b

12A C(-) (-) O3a3c1*124 12A C(-) (-) O3a3c1*125 12A C(-) (-) O3a3c1*126 12A C(-) (-) O3a3c1*127 12A C(-) (-) O3a3c1*128 12A O3a3c1*130

G(+) 12A A(-) C(-) G(-) (-) O3a3*/8425+5 16 29 12 26 8 13 10 14 12 12 19 13 12 9 11 12 15 10 1 4 10 11YGU234a

C 13A A(-) C(-) (-) O3a3/119166-13A 15 31 13 24 8 11 10 13 11 13 24 13 12 8 12 12 15 10 1 4 10 (-) 12TK242 C 13A A(-) C(-) (-) O3a3/119166-13A110 C 13A G(+) C(-) G(-) (-) O3a3*/008002 15 29 13 24 8 11 10 13 11 13 25 13 12 8 12 12 15 10 1 4 10 (-) 12EH241

b

12A T(+) G(-)/G(-) (-) O3a4* 17 27 12 25 8 12 10 13 12 14 19 13 12 9 12 12 14 9 1 4 10 (-) 12NN229 12A T(+) G(-)/G(-) (+) O3a4*106 12A T(+) G(-)/G(-) (+) O3a4*107 12A T(+) G(-)/C(+) (+) O3a4/037852 16 28 12 25 8 12 10 13 12 13 20 13 12 9 12 12 14 9 1 4 10 13 AC222

C 12A T(+) G(-)/C(+) (+) O3a4/037852 16 28 12 25 8 12 10 13 12 12 19 13 12 9 12 12 14 9 1 4 10 12 TK223a

12A T(+) G(-)/C(+) (+) O3a4/037852 16 30 13 24 8 11 10 13 13 11 21 13 12 9 11 12 15 10 1 4 10 12HO224 12A A(-) T(+) G(-)/C(+) (-) O3a4/037852 13 28 12 25 8 12 10 13 13 13 21 13 12 9 12 12 15 10 1 4 10 11EH225

b

12A T(+) G(-)/C(+) (-) O3a4/037852 14 29 12 24 8 11 10 13 12 12 19 13 13 9 12 12 14 9 1 4 10 (-) 12CB226 12A T(+) G(-)/C(+) (-) O3a4/037852 15 30 12 24 8 11 10 13 12 12 20 13 13 9 12 12 14 9 1 4 10 12 TK227

C 12A T(+) G(-)/C(+) (-) O3a4/037852 16 27 12 25 8 12 10 13 12 12 19 13 12 9 12 12 14 9 1 4 10 (-) 12KG228a

12A T(+) G(-)/C(+) (-) O3a4/037852 17 29 13 25 8 12 10 13 12 12 20 13 13 9 12 12 14 9 1 4 10 (-) 12SN230 12A T(+) G(-)/C(+) (-) O3a4/037852 16 30 13 25 8 12 10 13 12 12 19 13 13 9 12 12 14 9 1 4 9 12OY231 12A T(+) G(-)/C(+) (-) O3a4/037852108

C 12A C(-) G(-) A(+) A(+) C(-) Q1 13 30 14 24 8 11 9 14 13 15 23 12 12 9 11 13 14 8 2 4 12 11ST263a