What is bioinformatics? About human genome Human genome project Aim of human genome project History Sequencing Strategy Benefits of Human Genome Project research Disadvantages of human genome project Conclusion References

1. Human genome project
By
KAUSHAL KUMAR SAHU
Assistant Professor (Ad Hoc)
Department of Biotechnology
Govt. Digvijay Autonomous P. G. College
Raj-Nandgaon ( C. G. )

2.  What is bioinformatics?
 About human genome
 Human genome project
 Aim of human genome project
 History
 Sequencing Strategy
 Benefits of Human Genome Project research
 Disadvantages of human genome project
 Conclusion
 References
Content

3. What is bioinformatics?
 Bioinformatics is an interdisciplinary scientific field that
develops methods for storing, retrieving, organizing and
analyzing biological data. A major activity in bioinformatics is to
develop software tools to generate useful biological knowledge.
 Bioinformatics is a distinct science from biological
computation, the latter being a computer science and computer
engineering subfield using bioengineering and biology to build
biological computers, whereas bioinformatics simply uses
computers to better understand biology.

4. About human genome
 The human genome is the complete set of genetic information for
humans (Homo sapiens).
 This information is encoded as DNA sequences within the
23 chromosome pairs in cell nuclei and in a small DNA molecule
found within individual mitochondria.
 Human genomes include both protein-coding DNA genes
and noncoding DNA.
 Haploid human genomes (contained in egg and sperm cells)
consist of three billion DNA base pairs, while diploid genomes
(found in somatic cells) have twice the DNA content.

5. There are three types of genetic studies done on humans
 Mitochondrial DNA Studies
 Nuclear DNA Studies
 Y- Chromosome Studies

6. The human mitochondrial genome
 The complete sequence of the human mitochondrial genome
has been known for over 20years.
 At just 16 569 bp, it is much smaller than the nuclear genome,
and it contains just 37 genes.
 Thirteen of these genes code for proteins involved in the
respiratory complex, the main biochemical component of the
energy-generating mitochondria; the other 24 specify non-
coding RNA molecules that are required for expression of the
mitochondrial genome.
 The genes in this genome are much more closely packed than in
the nuclear genome and they do not contain introns.

8. Nuclear DNA Studies
 we will examine a 50-kb segment of chromosome 7, this segment
forming part of the 'human β T-cell receptor locus', a much larger
(685 kb) region of the genome that specifies proteins involved in the
immune response.
 Our 50-kb segment contains the following genetic features:

9. Y- Chromosome Studies
 Genetic studies of the Y- chromosome are a form of nuclear DNA
studies where, uniquely, genes are past only from fathers to sons.
 In addition, HGP was also entrusted to elucidate the genomes of
several other model organisms e.g. Escherichia coli,
Saccharomyces cerevisiae, Caenorhabditis elegans (roundworm),
Mus musculus (mouse).
 James Watson was the first Director of HGP.

10. Human genome project
 The Human Genome Project (HGP) is an international scientific
research project with a primary goal of determining the sequence of
chemical base pairs which make up human DNA, and of identifying
and mapping the total genes of the human genome from both a
physical and functional standpoint. It remains the largest collaborative
biological project.
- Aims of the project:
- to identify the approximate 100,000 genes in the human DNA.
- determine the sequences of the 3 billion bases that make up
human DNA.
- store this information in databases.
- develop tools for data analysis.
- address the ethical, legal, and social issues that arise from
genome research.

11. History
 The project began with the culmination of several years of work
supported by the US Department of Energy, in particular workshops
in 1984 of the US Department of Energy.
 This 1987 report stated boldly, "The ultimate goal of this initiative is
to understand the human genome" and "knowledge of the human is
as necessary to the continuing progress of medicine and other
health sciences as knowledge of human anatomy has been for the
present state of medicine."
 The proposal was made by Dr. Alvin Trivelpiece and was approved
by Deputy Secretary William Flynn Martin.
 James D. Watson was head of the National Center for Human
Genome Research at the National Institutes of Health in the United
States starting from 1988.

12. Continue..
 The Human Genome Project was declared complete in
April 2003.
 The Human Genome Project is sometimes reported to
have a cost of three billion dollars and a time period of 10-
15 years.
 A parallel project was conducted outside of government
by the Celera Corporation, or Celera Genomics, which
was formally launched in 1998.
 Most of the government-sponsored sequencing was
performed in universities and research centres in China,
France, Germany, Japan, Spain, the United Kingdom, and
the United States.

13. Sequencing Strategy
 Once a contig map of the genome was obtained, it was necessary
to sequence each individual clone.
 Most of the actual human genome sequencing was done on BAC
clones, which are less prone to rearrangement than YAC clones.
BACs are about 100-200 kbp long.
 Large clones are generally sequenced by shotgun sequencing:
The large cloned DNA is randomly broken up into a series of
small fragments ( less than 1 kb). These fragments are cloned
and sequenced. A computer program then assembles them
based on overlaps between the sequences of each clone.

15. Figure 6: How to sequence DNA.
A) DNA polymerase binds to a single-stranded DNA template (blue) and synthesizes a complementary strand
of DNA (red). B) When DNA polymerase randomly incorporates a fluorescently labeled ddNTP base, synthesis
terminates. This step produces a mixture of newly synthesized DNA strands that differ in length by a single
nucleotide. Each strand is labeled at the 3′ end with a fluorescently labeled ddNTP base. C) The DNA mixture
is separated by electrophoresis. D) The electropherogram results show peaks representing the color and signal
intensity of each DNA band. From these data, the sequence of the newly synthesized DNA strand is
determined, as shown above the peaks.

16. Gene Detection
 The best evidence that a given DNA sequence is expressed is to
find an EST (cDNA copy of mRNA) that matches it. Large
numbers of EST libraries have been constructed and
sequenced.
 Homology searches, using BLAST, are a good way to find
genes. If a DNA sequence closely matches a sequence from
another organism, it has been evolutionarily conserved, and
that usually means that it is an expressed gene.

17. Benefits of Human Genome Project research
- Improvements in medicine:
improved diagnosis of disease.
- Microbial research: new energy
sources, bio fuels.
- DNA forensics: identifying
potential suspects at a crime
scene.
- Agriculture: more nutritious
produce.
- Evolution and human migration:
study migration of different
population groups based on
female genetic inheritance.
- Risk assessment: reduce the
likelihood of heritable mutations.

18. Drawback of human genome project
 The cost – the money could be spent elsewhere,
 The anguish resulting from knowing that a person has an untreatable
genetic disease,
 The use or misuse of genetic information by such organisations as
insurance companies and employers,
 The ownership of genetic test results,
 The patenting of human genes and DNA,
 The increasing gap between rich and poor countries in the quality of life
and the level of health and disease treatment,
 The exploitation of isolated populations in the search for disease genes,
 The ethics of accumulating genotypic profiles of people - are they able to
be used for anything that the researcher wants.

19. Conclusions
 The work of the Human Genome Project has allowed researchers to
begin to understand the blueprint for building a person.
 As researchers learn more about the functions of genes and proteins,
this knowledge will have a major impact in the fields of medicine,
biotechnology, and the life sciences.

20. References
 Book –Biotechnology by Dr. U. satyanarayana reprinted- 2009.
 Book –Genomes 2nd edition by T. A. Brown.
 Internet -
http://www.ornl.gov/sci/techresources/Human_Genome/education/imag
es.shtml
 www.worldofteaching.com
 http://en.wikipedia.org.