1. introduction to humangenetics and genomics.ppt
TRANSCRIPT
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
1/84
Introduction to human genetics and
genomics
Semmelweis University
Department of Genetics, Cell- and Immunobiology
Budapest
rof! "dit Bu#$s
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
2/84
www!gsi!hu oncogene%&
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
3/84
Inherited features' (absburg lip
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
4/84
•
)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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
5/84
8he Bach family
9S Bach and his sons Carl hilipp "manuel, 9ohann Christian, 1ilhelm :riedemann, and 9ohann Christoph :riedrich
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
6/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
7/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
8/84
The length of DNA
/m>nucleusIn our body the D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
9/84
The difference between the human and chimpanzeegenomes is 4% only
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
10/84
(omologous se?uences
• (omolog' D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
11/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
12/84
'nterindividual nucleotide differences
Single nucleotide polymorphisms +S
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
13/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
14/84
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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
15/84
's the DNA se)uence identical in all somatic cells(
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
16/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
17/84
Short reproduction time, high offspring number
made them valuable systems in genetics
"! coli
Drosophila Caenorhabditis ebra fish
ba;erHs yeast =rabidopsis thaliana
mouse
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
18/84
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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
19/84
Building bloc; s of D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
20/84
% Dhuman somatic cells
purinepyrimidine
bp +base pair0
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
21/84
D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
22/84
D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
23/84
1hat can we tell by the se?uencesL
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
24/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
25/84
8he nucleosoal organi#ation of the
D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
26/84
8he chromatin filament
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
27/84
8he formation of chromosomes
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
28/84
Chromatin+interphase0
Scaffold protein
+e!g!! topoisomerase
II0
8he formation of chromosomes
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
29/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
30/84
Cell cycle
c
c
c
Chromatin' in interphase +G%SG/0
Chromosome' at cell division
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
31/84
http'>>www!sciencedirect!com>science>article>pii>S33%&5M3332/4
Chromatin chromosome
chromatin
chromatin
ro
6eta =na
8elo
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
32/84
chromatin chromosome
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
33/84
Chromosome
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
34/84
Chromosome
% sister chromatidJ
% D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
35/84
Chromosome
2& >human
somatic cell
D th b f h t ll h b t
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
36/84
Does the number of chromosomes tell much about
an organismL
A$A&'#A$(A)
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
37/84
A$A&'#A$(A)
Gene' the unit of inheritance, part of the D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
38/84
(omologous pair of chromosomes
maternalpaternal
/4 pair>somatic cell
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
39/84
paternal
maternal
(omologous pair of chromosomes
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
40/84
(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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
41/84
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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
42/84
D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
43/84
D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
44/84
$ell division
6I8@SIS 6"I@SIS
/ D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
45/84
Gregor 6endel
+%//-%20
6 d l i ti t d 5 i f h t i ti
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
46/84
6endel investigated 5 pairs of characteristics
6 d lH l
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
47/84
6endelHs laws
%&.
Faw of uniformity
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
48/84
&333 monogenic human genetic
diseases following 6endelian
inheritance
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
49/84
Th
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
50/84
The genome
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
51/84
The nuclear and mitochondrial genomes
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
52/84
titi i th
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
53/84
epetitive se?uences in the genome
8he structure of the human genome
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
54/84
8he structure of the human genome
8ransposons
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
55/84
8ransposons
Barbara 6cClintoc;%4,
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
56/84
8he structure of the eu;aryote gene
downstream
l ti f t i ti
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
57/84
egulation of transcription
Chromatin
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
58/84
euchromatinheterochromatin
Chromatin
egulation of eu;aryotic gene transcription
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
59/84
egulation of eu;aryotic gene transcription
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
60/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
61/84
8ranscription
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
62/84
:igure % ' "lectron micrograph of nascent pre-m
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
63/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
64/84
=lternative splicing
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
65/84
=lternative splicing
=lternative splicing
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
66/84
=lternative splicing
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
67/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
68/84
8ypes of
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
69/84
"Etracellular
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
70/84
m
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
71/84
Codon and anticodon
8he genetic code
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
72/84
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
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
73/84
1obbling effect
osttranslational modifications
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
74/84
osttranslational modifications
osttranslational modi+ications
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
75/84
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
76/84
Cloning of the sheep, Dolly +%&0
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
77/84
g p, y + 0
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
78/84
2008, Korea/3%3, US=
/335, Canada
/3%/, India
Copy cat, /33/,
US=
(uman Genome roPect
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
79/84
P
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
80/84
http'>>www!nature!com>encode>
"ncyclopedia of D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
81/84
+/334-/3%/0
6aPor result'
resumably a much larger proportion of the human D
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
82/84
g
genome +microbiome0
min! %3E bacterial cells
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
83/84
8@@FS
-
8/18/2019 1. Introduction to humangenetics and genomics.ppt
84/84
8@@FS
estriction endonucleases' targeted
cleavage of the D