Human Genome project

1. HUMAN GENOME
PROJECT
The human genome project (HGP) was officially
launched in USA on October 1990 by
the US department of Energy and
the National Institute of Health (NIH).
The aim was to sequence about 3 billion base pairs and
identify about 30,000 genes.
It was completed in 2003.

2. GENOME
Genome is the
complete DNA
sequence contained
in a chromosome of
an organism, which
carries its complete
genetic information
(total no. of genes).
PROTEOME
Proteome is the
complete set of
Proteins that is
expressed by the
entire genome.
Some genes code
for multiple proteins
and as a result size
of the proteome is
greater than the
genes.
TRANSCRIPTION
Transcription is the
complete RNAs
present in the cell,
tissue, or organism.
It also include non-
coding RNAs

3. MAJOR WORK DONE
UNDER HGP
It is an approached to locate the gene
responsible for human disease based
solely on its map position. It involved 3
steps:
1 POSITIONAL CLONING
A. Genetic maps:
- Genetic map with highly informative marker spaced
2 – 5 centi-morgans apart was felt to be very high
priority for the HGP
.
- By 1994, more than 5,000 highly informative
markers have been placed on the map.
B. Physical maps:
- The next step to locate the particular marker gene
was generating a set of overlapping cloned
fragments of DNA for a region 1 – 10 million bp in
size that can be carried by yeast artificial
chromosomes (YACs).
- The sequence-tagged site or STS has become the
common currency of physical mapping.
- By 1998, more than 30,000 STSs had been derived,
placing over 98% of the genome in overlapping sets
of ordered YACs

4. MAJOR WORK DONE
UNDER HGP
The isolation of the gene is followed
by identification of disease causing
mutations. In functional cloning, there
is knowledge about the function of the
gene product (protein).
2 FUNCTIONAL CLONING
C. Sequencing:
- The effort of sequencing DNA became successful with the
appropriate attention to automation, optimization of all of
the steps involved, and microscaling. The enormous
amount of data have been entered into a public database.
- Computer algorithm called GRAIL are now available to
scan large regions of genomic sequence and predict the
location of coding regions accurately.
The map and sequence information provided by the HGP
,
coupled with the collection of DNA from families in which a
particular disorder is occurring at high frequency, should allow the
identification of susceptibility genes for almost all possible
heritable phenotypes, using the principles of positional cloning.
Such genes discoveries will lead quickly to the possibility of
presymptomatic testing. The testing may predict a high risk of
future illness for the individual or their offspring

5. MAJOR WORK DONE
UNDER HGP
The HGP is involved in the
development of molecular diagnostic
in two major ways:
3
Advances in
Molecular diagnostics
Firstly by identification of disease genes and
disease causing mutations
Secondly by use of wider range of more refined
technologies in clinical practice such as PCR. An
important discovery in this area is DNA chips or
microarrays.
4 Preventive medicines
For many disorders, the information about risk
will be useful, as it will allow design an individual
program of medical surveillance and lifestyle
planning to reduce that risk.

6. MAJOR WORK DONE
UNDER HGP
The long-term promise of
the Human Genome Project is that
these gene discoveries will also lead to
better therapies. For example, using
the gene itself to treat the disease
(gene therapy).
5
Therapeutic benefits The discovery of the gene may provide sufficient
information about the basic biologic and cellular defect
to allow the development of rational drug therapy that
will be more successful than the existing
pharmacological approaches.
Studying the genetic basis of drug responsiveness and
resistance is called Pharmacogenomics
6
Comparative Biology of
Humans and Model Organisms
Study of comparative biology was a major component
of HGP because other model organisms are more
amenable to research analysis, e.g, genomics analysis
of mouse, Drosophila, C. elegans, Yeast and E.coli
bacteria.
This is based on the fundamental knowledge that all
organisms are related and share same general type of
DNA blueprint and there is significant conservation.