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1. HUMAN GENOME PROJECT
Saksham Agrawal
12th A

2. “ Our own genome carry the
story of evolution, written
in DNA, the language of
molecular genetics, and the
narrative is unmistakable.
Kenneth R.Miller

3. Introduction
⊹ International scientific research project that aimed
to determine the complete sequence of nucleotide
base pairs that make up the human DNA and all
the gene it contains.
⊹ World’s largest collaborative project.
⊹ The “genome” of any given individual is unique;
mapping the “human genome” involved
sequencing the genomes of a smaller number of
individual and then assembling these together to
get the complete sequence for each chromosome.

4. Goals
⊹ To identify and map all the 20000-25000 genes
(approx) in the human DNA.
⊹ To determine the DNA sequences of the 3 billion
chemical base pairs (entire euchromatic human
genome) within 15 years.
⊹ To store these information in databases.
⊹ Also to sequence the genomes of other organisms
that are important in medical research such as
mouse, drosophila, etc.
⊹ To address ethical, legal and social issues.

5. Pioneers in HGP
⊹ Robert Sinsheimer- proposed the idea
⊹ Charles DeLisi and David Smith- proposed the
budget
⊹ James Watson- headed the NIH Genome Program
⊹ Francis Collins- succeeded James Watson in 1993
⊹ Jim Kent- developed a software, GigAssembler that
allowed HGP to assemble and publish the human
genome sequence

6. 1995 1994 1990 1986
1996 1997 1998 1999 2000 2002
2001
1993 1989 1985 1970
2003
TECHNIQUE
of DNA
sequencing
by Frederick
Sanger
IDEA of
genome
sequencing
by Robert
Sinsheimer
FUND by
US dept. of
energy and
N.I.H.
MRC
(Medical
research
council) of
UK joined
HGP
LAUNCHED
with James
Watson as
project
director
First FIVE
YEAR PLAN
SANGER
INSTITUTE
joins HGP
HUMAN
GENETIC
MAPPING
GOAL was
achieved
GENETIC
PRIVACY
ACT was
passed
First HUMAN
GENE MAP
was published
MOUSE GENETIC
MAPPING GOAL
was achieved
GENOSCOPE,
French
national
genome
sequencing
centre was
developed
Second
FIVE YEAR
PLAN
RIKEN
GENOMIC
SERVICES
CENTRE was
developed
Sequencing of
HUMAN
CHROMOSOME
22 was
completed and
was published in
“the nature”.
WORKING
DRAFT of
human
genome
completed
WORKING
DRAFT of
mouse
genome
was
completed
and
published
WORKING
DRAFT of
human
genome
was
published
HGP
ENDED with
all goals
completed
Timeline of the Human Genome Project

7. Technical Aspects
⊹The first step of determining the human genome involves
genome mapping, or characterizing the chromosomes. This is
called a genetic map.
⊹The next step is DNA sequencing, or determining the order
of DNA bases on a chromosome. Theses are called physical
maps.

8. Mapping Strategies
⊹Genetic markers are invaluable for genome mapping.
⊹Markers are any inherited physical or molecular
characteristics that are different among individuals of a
population (polymorphic).
⊹A genetic map shows the relative locations of theses
specific markers on chromosomes.
⊹An example of marker includes restriction fragment length
polymorphisms (RFLP).

9. Sequencing Strategies
⊹To sequence DNA, it must be first be amplified, or
increased in quantity.
⊹Two types of DNA amplifications are cloning and
polymerase chain reactions (PCR).
⊹Sequencing techniques used in HGP are :-
×Shotgun sequencing method
×Sanger sequencing method

10. Shotgun sequencing
method
Shotgun sequencing is a laboratory technique
for determining the DNA sequence of an
organism's genome. The method involves
breaking the genome into a collection of small
DNA fragments that are sequenced
individually. A computer program looks for
overlaps in the DNA sequences and uses
them to place the individual fragments in their
correct order to reconstitute the genome.

11. 11

12. Sanger sequencing
method
•Frederick Sanger developed this method of
sequencing in the year 1977.
•Most widely used DNA sequencing method
for almost 40 years, bringing successful
completion of the HGP.
•Bases on chain termination by the use of
dideoxynucleotides (ddNTPs), which is an
artificial molecule that lacks the OH group at
the 3’ end of the ribose sugar.

13. Steps
DENATURE AND CLONE
The first step is to fragment the DNA by applying heat and cloning the fragments
into vectors

14.  APPLYING PRIMER
 The second step is to anneal a synthetic oligonucleotide.
 The oligonucleotide acts as a binding site for a primer and provides a 3’
hydroxyl group, which is necessary to initiate DNA synthesis.
 The oligonucleotide is placed 10 to 20 nucleotides away from the target DNA
in order to recognize the sequence and identify precisely the first nucleotide.
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15.  Addition of dNTPs and ddNTPs
 Four different reaction vials are made, each with the four standard dNTPs,
and DNA polymerases
 The difference among the vials are the types of ddNTPs.
 After DNA synthesis occurs, each reaction vial will have a unique set of
single stranded DNA molecules of varying lengths.
 The resulting DNA fragments are then denatured by heat
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16. Outcomes of HGP
⊹There are approximately 23000 protein-coding genes in
human beings
⊹Gene density
×23 genes per million base pairs on chromosome 19
×5 genes per million base pairs on chromosome 13
⊹Human genome comprises of 2% of exon (coding regions)
and 98% of introns (non-coding regions).

17. Applications of HGP
⊹Holds benefits for many fields, from molecular medicine to
human evolution.
⊹Helps in identifying disease causing gene.
⊹Identification of mutations linked to different forms f
cancer.
⊹Will allow advancements in agriculture through genetic
modification to yield healthier, more disease-resistant crops.
⊹Benefitted the advancements of forensic science

18. Thanks!
BIBLIOGRAPHY
⊹NCERT Biology Textbook for class 12
WEBLIOGRAPHY
⊹ www.google.co.in
⊹ www.genome.gov
⊹ www.wikipedia.org
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