Human genome project by kk sahu

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 .

7. 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 :

8. 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.

9. 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 .

10. 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 .

11. 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 .

12. 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.

13. 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.

14. 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.

15. 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 .

16. 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.

17. 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 .

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