1. introduction to humangenetics and genomics.ppt

8/18/2019 1. Introduction to humangenetics and genomics.ppt

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Introduction to human genetics and

genomics

Semmelweis University

Department of Genetics, Cell- and Immunobiology

Budapest

rof! "dit Bu#$s


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www!gsi!hu oncogene%&


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Inherited features' (absburg lip


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•

)ing George *I +%.-%./0 and great-grandson 1illiam"dward *II +%2%-%%30 great-great-grandson Charles

)ing "dward I +%/4-%4350 anhis 2 td imes great!grandson

rince 1illiam

6ary +%&5-%.40, and granddaughter 7ueen "li#abeth II

Inherited features


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8he Bach family

9S Bach and his sons Carl hilipp "manuel, 9ohann Christian, 1ilhelm :riedemann, and 9ohann Christoph :riedrich


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The length of DNA

/m>nucleusIn our body the D


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The difference between the human and chimpanzeegenomes is 4% only


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(omologous se?uences

• (omolog' D


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'nterindividual nucleotide differences

Single nucleotide polymorphisms +S


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Do all the cells of our body contain the same

amount of DNA(

Somatic cells and germ cells differ

Somatic cells also differ because of differ+at different stages of the cell cycle0

In somatic cells it also depends on the presence

and number of nuclei +e!g! BC, s;eletal muscle

cell0


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's the DNA se)uence identical in all somatic cells(


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Short reproduction time, high offspring number

made them valuable systems in genetics

"! coli

Drosophila Caenorhabditis ebra fish

ba;erHs yeast =rabidopsis thaliana

mouse


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Basic terms

Genome' the complete genetic material of the cell

Genetics' science focusing on induvidual genes, the

inheritence and variability

Genomics' science focusing on the entire genome and

the interection of genes

"pigenetics' science focusing on inherited, howevernot D


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Building bloc; s of D


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% Dhuman somatic cells

purinepyrimidine

bp +base pair0


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D


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D


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1hat can we tell by the se?uencesL


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8he nucleosoal organi#ation of the

D


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8he chromatin filament


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8he formation of chromosomes


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Chromatin+interphase0

Scaffold protein

+e!g!! topoisomerase

II0

8he formation of chromosomes


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Cell cycle

c

c

c

Chromatin' in interphase +G%SG/0

Chromosome' at cell division


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http'>>www!sciencedirect!com>science>article>pii>S33%&5M3332/4

Chromatin chromosome

chromatin

chromatin

ro

6eta =na

8elo


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chromatin chromosome


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Chromosome


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Chromosome

% sister chromatidJ

% D


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Chromosome

2& >human

somatic cell

D th b f h t ll h b t


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Does the number of chromosomes tell much about

an organismL

A$A&'#A$(A)


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A$A&'#A$(A)

Gene' the unit of inheritance, part of the D


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(omologous pair of chromosomes

maternalpaternal

/4 pair>somatic cell


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paternal

maternal

(omologous pair of chromosomes


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(omo#ygote' identical alleles at the same loci of the chomosome pair

(etero#igote' different alleles at the same loci of the chomosome pair

(emi#igote' carries only a single copy of the gene

Dominant allele' a gene variant that phenotypically always results in a

given chracateristics +even in hetero#ygotes0

ecessive allele' a gene variant that manifests phenotypically in homo-

and hemi#ygotes only

ossible genotypes' ==, =a, aa

Basic terms


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loidy refers to the number of homologous chromosomes of a cell. *+ acell contains a single set o+ chromosomes onl,- then it is haploid , i+ it has two

sets o+ chromosomes- then it is a diploid one.

+loidy


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D


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D


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$ell division

6I8@SIS 6"I@SIS

/ D


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Gregor 6endel

+%//-%20

6 d l i ti t d 5 i f h t i ti


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6endel investigated 5 pairs of characteristics

6 d lH l


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6endelHs laws

%&.

Faw of uniformity


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&333 monogenic human genetic

diseases following 6endelian

inheritance


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Th


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The genome


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The nuclear and mitochondrial genomes


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titi i th


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epetitive se?uences in the genome

8he structure of the human genome


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8he structure of the human genome

8ransposons


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8ransposons

Barbara 6cClintoc;%4,


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8he structure of the eu;aryote gene

downstream

l ti f t i ti


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egulation of transcription

Chromatin


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euchromatinheterochromatin

Chromatin

egulation of eu;aryotic gene transcription


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egulation of eu;aryotic gene transcription


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8ranscription


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:igure % ' "lectron micrograph of nascent pre-m


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=lternative splicing


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8ypes of


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"Etracellular


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m


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Codon and anticodon

8he genetic code


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8he genetic code

%! It consists of triplets

/! Degenerated +redundant0'

20 aa!4 triplet com3inations

5 stop codon 67AA- 7A#- 7#A8

4! Comma-free, non-overlapping

2! =lmost completely universal

.! 1obble effect 6&rancis "rick8

&! Unambiguous

6 codon encodes +or amino acid

onl,8

1obbling effect


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1obbling effect

osttranslational modifications


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osttranslational modifications

osttranslational modi+ications


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Cloning of the sheep, Dolly +%&0


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g p, y + 0


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2008, Korea/3%3, US=

/335, Canada

/3%/, India

Copy cat, /33/,

US=

(uman Genome roPect


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P


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http'>>www!nature!com>encode>

"ncyclopedia of D


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+/334-/3%/0

6aPor result'

resumably a much larger proportion of the human D


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g

genome +microbiome0

min! %3E bacterial cells


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8@@FS


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8@@FS

estriction endonucleases' targeted

cleavage of the D

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