This document summarizes key aspects of the human genome project including its goals, methods of DNA sequencing, applications, and ongoing challenges. The human genome project was an international scientific research project that determined the sequence of nucleotide base pairs that make up human DNA and mapped the approximate locations of genes on each of the 23 chromosome pairs. It aimed to identify all the genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, and transfer related technologies to the private sector.

1. Yashaswinee Sahoo

2. What is Genome?
Salient Features Of Human Genome
Participants of the HGP
Goals
DNA Sequencing
Application
Human Genome Project
Issue of concern
Future Challenges: what we still don’t know

3. A genome is an organism’s
complete set of DNA, including all
of its genes.
Each genome contains all of the
information needed to build and
maintain that organism.
The genome includes both the genes
and the non-coding sequence of
DNA/RNA.

4. 1 bp = 660 Dalton
Genome of organism differ from others
Arrangement of
bases
Number of base
pairs
1000 bp = 1 kb
1000 kb = 1 Mb ( 10 6 bp)
1000 Mb = 1 Gb (10 9 bp)

5. Erwin Chragaff
Organism A T G C A/T G/C
E.Coli 26 23.9 24.9 25.2 1.09 0.99
Yeast 31.3 32.9 18.7 17.1 0.95 1.09
Drosophila 27.3 27.6 22.5 22.5 0.99 1.00
Honey Bee 34.4 33.0 16.2 16.4 1.04 0.99
Mouse 29.2 29.4 21.7 19.7 0.99 1.10
Human(liver) 30.7 31.2 19.3 18.8 0.98 1.03
Chargaff’s rule
G=C
A=T
DNA composition
varies from
species to species

6. SPECIES GENOME SIZE (Mb) No. of Chromosome(n)
FUNGI
SACCHAROMYCES CEREVISIAE 12.1 16
ASPERGILLUS NIDULANS 25.4 8
PLANTS
ARABIDOPSIS THALIANA 125 5
ORYZA SATIVA 430 12
ZEA MAYS 2500 10
PISUM SATIVUM 4800 14
TRITICUM AESTIVUM 16000 24
FRITILLARIAASSYRIACA 120000 12
INVERTEBRATES
CAENORHABDITIS ELEGANS 97 7
DROSOPHILA MELANOGASTER 180 4
BOMBYX MORI 490 28
VERTEBRATES
MUS MUSCULUS 3300 19+X & Y
HOMO SAPIENS 3200 22 + X & Y

7. GENE NUMBER SIZE (bp)
VIROIDS
PSTV RNA 0 359
SS RNA VIRUSES
STNV 1 1300
PHAGE MS2 4 3569
TMV 4 6400
INFLUENZA 12 13500
DS RNA VIRUSES
REOVIRUS 22 23000
SS DNA VIRUSES
PHAGE x174 11 5387
DS DNA VIRUSES
SV 40 6 5226
PHAGE T4 200 165000
ORGANISMS
MYCOPLASM 500 <106
BACTERIA 2-4000 <107
FUNGI 6000 1.3 X 107
FLIES 12000 1.6 X 108
MAMMALS 20000 3 X 108
PLANTS 50,000 < 1011

8. ATCGCGCTA
AAATGGTCA
TATTAGGC
TACGGTTA
CGATGGCT
A BOOK 1000 PAGES
E.COLI
300 PAGES
YEAST
1 BOOK
DOSOPHILA
10 BOOKS
HUMAN
200 BOOKS
EACH PAGE 50 LINES
EACH LINE 100 LETTERS
ATCGCGCTA
AAATGGTCA
TATTAGGC
TACGGTTA
CGATGGCT

9. Human genome consists information of 23
chromosome (22Autosomes +1X chromosome)
Human genome contains over 3 billion
nucleotide pair, about 30,000 genes & 3000
bases.
Only 3% of genome codes for amino acid
sequence of polypeptide .
Only 0.2% of base pair is different in
individual.

10. Structure of chromosome 1
(Has largest genes i.e.,
2968genes)
Y chromosome has lowest
genes(i.e., 231)

12. National Institute Of Health (NIH)
The Department Of Energy (DOE)
USA
UK
FRANCE
GERMANY
JAPAN
CHINA
Total expenditure
$3/bp ( 9billion
US $)
Time
Period=
13 years
Celera: 5 individuals;
HGSC: ‘many’

14. GOALS
IDENTIFY
DETERMINE
STORE
IMPROVE
TRANSFER
ADDRESS

15. Maxam-Gilbert chemical sequencing
Sanger chain termination sequencing
Automated Sequencing
The term DNA sequencing encompasses biochemical
methods for determining the order of the nucleotide bases,
Adenine, Guanine, Cytosine & Thymine in DNA
oligonucleotide.

16. 32
P
5’
5’
3’
3’
5’ 3’
TAGTCGCAGGAC
ds DNA
ss DNA
Radio
labelled
G A+G T+C C
32PTAG 32PTA 32PT 32PTAGTC
32PTAGTCG 32PTAG 32PTAGT 32PTAGTCGC
32PTAGTCGCAG 32PTAGTCG 32PTAGTC 32PTAGTCGCAGGAC
32PTAGTCGCAGG 32PTAGTCGCA 32PTAGTCGC
32PTAGTCGCAG 32PTAGTCGCAGGAC
32PTAGTCGCAGG
32PTAGTCGCAGGC

17. G A+G T+C C
Bands on Autoradiogram
3’
C
A
G
G
A
C
G
C
T
G
A
T
5’
Sequencing
gels are read
from bottom
to top
(5′ to 3′).
5’
G
T
C
C
T
G
C
G
A
C
T
A
3’
Sequence of
base on the
Complementary
strand.
Sequence of
base on the
analysed
strand.
ELECTROPHORESIS

18. ssDNA , Labelled Primer , DNA
Polymerase ,Excess dNTPs
3’
3’
5’
5’
5’ 3’
TAGTCGCAGGACCG
ds DNA
ss DNA
A C G T
dd ATP dd CTP dd TTP
dd GTP
ATCAGCGTCCTGGC
ATCAGCGTCCTGGC
ddATP
ATCddATP
ATddCTP
ATCAGddCT
ATCAGCGTddCTP
ATCAGCGTCddCTP
ATCAGCGTCCTGGddCTP
ATCAddGTP
ATCAGCddGTP
ATCAGCGTCCTddGTP
ATCAGCGTCCTGddGTP
AddTTP
ATCAGCGddTTP
ATCAGCGTCCddTTP
P
32

19. Sequencing
gels are read
from bottom
to top
(5′ to 3′).
A C G T
3’
C
G
G
T
C
C
T
G
C
G
A
C
T
A
5’
5’
G
C
C
A
G
G
A
C
G
C
T
G
A
T
3’
Sequence of
base on the
Complementary
strand.
Sequence of
base on the
analysed
strand.
Bands on Autoradiogram
ELECTROPHORESIS

21. APPLICATIONS
UNDERSTANDING
EVOLUTION
UNDERSTANDING
DIFFERENCES
BETWEEN
INDIVIDUALS
UNDERSTANDING
DIFFERENCES IN
FUNCTIONAL
ABILITYAMONG
INDIVIDUALS
MANUPULATON
OF GENOME
UNDERSTANDING
CAUSE OF
GENETIC
DISEASES

22. Fox2B
Dysbindin-1
CHRM-2
Williams
syndrome
WILLIAMS SYNDROME; LOW IN GENERAL INTELLIGENCE
BUT GOOD IN LANGUAGE : CHROMOSOME 11
SPECIFIC LANGUAGE IMPAIRMENT : LOW LINGUISTIC ABILITY
WITHOUT AFFECTING INTELLIGENCE : CHROMOSOME 7

26. Privacy & confidentiality of genetic information.
Psychological impact, stigmatization & discrimination.
Uncertainties associated with gene test for susceptibilities
and complex conditions.
Clinical issues.
Commercialization of products.
Fairness in access to advanced genomic technologies .
Health & environmental issues .

27. Gene number, exact location, function & regulation
Chromosomal structure & organisation.
Non coding DNA types, amount, distribution,
information content, & function.
Disease susceptibility prediction based on gene
sequence variation.
Genes involved in complex traits & multigene
disease.
Developemental genetics & genomics.