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Human genome


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Published in: Health & Medicine

Human genome

  1. 1. Presented by :-Shimaa Rashed
  2. 2. Objectives identify all the approximately 20,000-25,000 genes in human DNA determine the sequences of the 3 billion chemical base pairs that make up human DNA and store this information in databases improve tools for data analysis transfer related technologies to the private sector address the ethical, legal, and social issues (ELSI) that may arise from the project
  3. 3. On January 1989 biologist and scientistsgathered and Zinder Norton declared “todaywe are initiating an unending study of humanbiology whatever else happen it will be anadventure , priceless endeavor”The main aim of human genome project isto map the human genome.About 3 billion nucleotide pairs encode allhuman traits .
  4. 4.  It should be noted that through the first eight years of the project ,only three percent of the human genome hadbeen sequenced. James d Watson was one of the early supporters of the human genome initiative and the first director of the center of human genome research.
  5. 5. What is the HumanGenome Project? The Human Genome Project or HGP is the complete mapping and understanding of all the genes of human beings. All of our genes together are known as a “genome”
  6. 6. Brief history of HGP 1984 to 1986 - first proposed at US DOE meetings 1987 Congressionally chartered DOE advisory committee, HERAC, recommends a 15- year, multidisciplinary, scientific, and technological undertaking to map and sequence the human genome. DOE designates multidisciplinary human genome centers. 1987 NIH NIGMS begins funding of genome projects.
  7. 7.  1988 - endorsed by US National Research Council (Funded by NIH and US DOE $3 billion set aside) 1988 First annual Cold Spring Harbor Laboratory meeting on human genome mapping and sequencing. 1988 Telomere (chromosome end) sequence having implications for aging and cancer research is identified at LANL. 1990 - Human Genome Project started formally. 1991 Human chromosome mapping data repository, GDB, established. 1992 Low-resolution genetic linkage map of entire human genome published.
  8. 8.  1995 LANL and LLNL announce high-resolution physical maps of chromosome 16 and chromosome 19, respectively. 1995 Moderate-resolution maps of chromosomes 3, 11, 12, and 22 maps published. 1995 Physical map with over 15,000 STS markers published. 1995 First (nonviral) whole genome sequenced (for the bacterium Haemophilus influenzae).
  9. 9.  1996 Sequence of the human T-cell receptor region completed. 1997 NIH NCHGR becomes National Human Genome Research Institute (NHGRI). 1997 High-resolution physical maps of chromosomes X and 7 completed. 1997 UNESCO adopts Universal Declaration on the Human Genome and Human Rights 1999 First Human Chromosome Completely Sequenced! On December 1, researchers in the Human Genome Project announced the complete sequencing of the DNA making up human chromosome 22.
  10. 10.  2000 International research consortium publishes chromosome 21 genome, the smallest human chromosome and the fifth to be completed. 2000 DOE researchers announce completion of chromosomes 5, 16, and 19 draft sequence. 2001 Human Chromosome 20 Finished - Chromosome 20 is the third chromosome completely sequenced to the high quality specified by the Human Genome Project. Human Genome sequence published in Nature 2003.
  11. 11.  2003 Human Chromosome 6 Completed, October Human Chromosome 7 Completed, July 2003. Human Chromosome Y Completed, June 2003. 2004 Human Chromosome 16 Completed, December Landmark Paper: Finishing the euchromatic sequence of the human genome, Nature, Oct. 21, 2004 Human Gene Count Estimates Changed to 20,000 to 25,000, October 2004. Human Chromosome 5 Completed, September 2004. Human Chromosome 9 Completed, May 2004. Human Chromosome 10 Completed, May 2004. Human Chromosome 18 Completed, March 2004. Human Chromosome 19 Completed, March 2004. Human Chromosome 13 Completed, March 2004.
  12. 12.  2005 Human Chromosome 4 Completed, April 2005. Human Chromosome 2 Completed, April 2005. Human Chromosome X Completed, March 2005. 2006 Human Chromosome 1 Completed, May 2006. Human Chromosome 3 Completed, April 2006. Human Chromosome 17 Completed, April 2006. Human Chromosome 11 Completed, March 2006. Human Chromosome 12 Completed, March 2006. Human Chromosome 15 Completed, March 2006. Human Chromosome 8 Completed, January 2006.
  13. 13.  2007 Human Microbiome Project begins. See Turnbaugh, P.J. et al. (2007) The human microbiome project. 1000 Genomes Project Consortium publishes pilot paper in Nature, October 2010. 2011 Ruling Upholds Myriad Gene Patent in Cancer Test, NYT, July 30 Launched Genomic Revolution (May 2011) 2012 Launches MyGenome App for iPad; "First Tool of Its Kind for Visualizing the Human Genome", June 2013 The U.S. Is Building Massive DNA Databases Map Of Shortcuts Created Between All Human Genes
  14. 14. Determining theSequence of DNA Methods: 1. Chain termination or dideoxy method  F. Sanger 2. Shotgun sequence method 3. 2nd generation sequence methods  Pyrosequencing
  15. 15. Dideoxy (Sanger)Method
  16. 16. • ddNTP- 2’,3’-dideoxynucleotide• No 3’ hydroxyl• Terminates chain when incorporated• Add enough so each ddNTP is randomly and completely incorporated at each base
  17. 17. Automated Version of theDideoxy Method
  18. 18. Shotgun sequence method The shotgun phase of the Human Genome Project itself consisted of three steps: 1-Obtaining a DNA clone to sequence 2-Sequencing the DNA clone 3-Assembling sequence data from multiple clones to determine overlap and establish a contiguous sequence
  19. 19. 2nd Generation:Pyrosequencing 1st generation -- chain termination (Sanger) method 2nd generation -- detection of PPi (pyrosequencing = 454 sequencing)
  20. 20. 3rd generation (“next generation”) -- real-time detection of polymerization with fluorescent dNTPs
  21. 21. What are the outcomesof The human GenomeProject? Genetically proven to have the ability to locate genes that are responsible for locating diseases Gene Therapy used today The HGP has been very successful
  22. 22. Benefits/advantages The human genome project has been described as the most important experiment in the biological sciences, providing benefits in various fields.
  23. 23. Medicine application Improved diagnosis of disease Earlier detection of genetic predispositions to disease Rational drug design Gene therapy and control systems for drugs Pharmacogenomics "custom drugs“
  24. 24. Energy and Environmental Applications:- Use microbial genomics research to create new energy sources (biofuels) Use microbial genomics research to develop environmental monitoring techniques to detect pollutants Use microbial genomics research for safe, efficient environmental remediation Use microbial genomics research for carbon sequestration
  25. 25. Risk Assessment: - Assess health damage and risks caused by radiation exposure, including low-dose exposures Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins Reduce the likelihood of heritable mutations
  26. 26. Thank you