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Chapter 2

The Human Genome Project, initiated in 1990 and completed in 2003, aimed to map and sequence the human genome through international collaboration, including contributions from the US, UK, France, Japan, and others. It employed both traditional mapping techniques and the whole-genome shotgun approach, resulting in a finished sequence with 99.9% accuracy. The project also established bioinformatics resources and databases, significantly advancing DNA sequence analysis and making genomic data accessible online.

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Chapter 2

The Human Genome Project, initiated in 1990 and completed in 2003, aimed to map and sequence the human genome through international collaboration, including contributions from the US, UK, France, Japan, and others. It employed both traditional mapping techniques and the whole-genome shotgun approach, resulting in a finished sequence with 99.9% accuracy. The project also established bioinformatics resources and databases, significantly advancing DNA sequence analysis and making genomic data accessible online.

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2024732785
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CHAPTER 2

HUMAN GENOME
PROJECT, GENOME
ORGANISATION AND
GENE RECOGNITION
Fig. 21-1
HUMAN GENOME PROJECT
BACKGROUND
• Introduced in a discussion at scientific
meeting organised by the US Dept. of
Energy(DOE) & others from 1984-1986
• A committee was appointed by US
National Research council endorsed
the concept in 1988.
Some recommendations:-
i. Broader programme to include the
creation of genetic, physical and
sequence maps of the human genome.
ii. To sequence model organisms e.g.
bacteria, yeast, worms, flies and mice
iii.The development of technology to
support the above objectives
iv. Research into legal, ethical and social
issues raised by human genome
research
• Officially begun as the Human Genome
Project in 1990,
• Completed by 2003
• Launched by the US as joint effort of DOE
and the National Institute of Health
• Other countries:
1. The UK Medical Research Council and the
WellcomeTrust
2. France, Centre de’Etude du
Polymorphisme human and the French
Muscular Dystrophy Association
3. Japan, Ministry of Education, Science,
Sport and Culture
4. The European Community helped to
launch several international effort to
sequence the yeast genome
5. Subsequently, other country such as
Germany and China joint the effort by late
1990
• Ultimately, the Human Genome
Organisation (HUGO) was founded to
provide a forum for international
coordination of the human genome work.
• Through 1995, work was progressed
rapidly into 2 fronts:
1. The construction of genetic and
physical map of the human and
mouse genomes which provided key
tools for the identification of disease
genes.
2. To sequence the yeast and worm
genomes as well as targeted regions
of mammalian genomes (e.g rat,
pigs, horse, chimpanzee etc.)
Fig. 21-2-1
Cytogenetic map Chromosome
bands

Genes located
by FISH
Fig. 21-2-2
Cytogenetic map Chromosome
bands

Genes located
by FISH

1 Linkage mapping

Genetic
markers
Fig. 21-2-3
Cytogenetic map Chromosome
bands

Genes located
by FISH

1 Linkage mapping

Genetic
markers

2 Physical mapping

Overlapping
fragments
Fig. 21-2-4
Cytogenetic map Chromosome
bands

Genes located
by FISH

1 Linkage mapping

Genetic
markers

2 Physical mapping

Overlapping
fragments

3 DNA sequencing
Result…..
• Produced finished sequence with
99.9% accuracy and no gaps
• Used BACs as vectors that are more
stable than YACs that had been used
previously
• Complete the 1st. Phase in March 1999
• First draft of human genome sequence
was published in June 2000
• Formally completed in 2003
Whole-Genome Shotgun
Approach to Genome
Sequencing
• The whole-genome shotgun approach
was developed by J. Craig Venter in
1992
• This approach skips genetic and
physical mapping and sequences
random DNA fragments directly
• Powerful computer programs are used
to order fragments into a continuous
sequence
Fig. 21-3-1
1 Cut the DNA
into overlapping
fragments short enough
for sequencing

2 Clone the fragments


in plasmid or phage
vectors.
Fig. 21-3-2
1 Cut the DNA
into overlapping
fragments short enough
for sequencing

2 Clone the fragments


in plasmid or phage
vectors.

3 Sequence each
fragment.
Fig. 21-3-3
1 Cut the DNA
into overlapping
fragments short enough
for sequencing

2 Clone the fragments


in plasmid or phage
vectors.

3 Sequence each
fragment.

4 Order the
sequences into
one overall
sequence
with computer
software.
• Both the three-stage process and the
whole-genome shotgun approach were
used for the Human Genome Project and
for genome sequencing of other organisms

• At first many scientists were skeptical about


the whole-genome shotgun approach, but it
is now widely used as the sequencing
method of choice

• A hybrid of the two approaches may be the


most useful in the long run
Scientists use bioinformatics to
analyze genomes and their
functions
• The Human Genome Project
established databases and refined
analytical software to make data
available on the Internet

• This has accelerated progress in DNA


sequence analysis
Centralized Resources for
Analyzing Genome Sequences

• Bioinformatics resources are provided


by a number of sources:
– National Library of Medicine and the
National Institutes of Health (NIH) created
the National Center for Biotechnology
Information (NCBI)
– European Molecular Biology Laboratory
(EMBL)
– DNA Data Bank of Japan
• Genbank, the NCBI database of sequences,
doubles its data approximately every 18
months

• Software is available that allows online


visitors to search Genbank for matches to:
– A specific DNA sequence
– A predicted protein sequence
– Common stretches of amino acids in a protein

• The NCBI website also provides 3-D views


of all protein structures that have been
determined
Fig. 21-4

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