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The Human Genome Project

The Human Genome Project

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Published by Suraj Bhattarai
Basics about human genome project.
objectives and findings.
Basics about human genome project.
objectives and findings.

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Published by: Suraj Bhattarai on May 21, 2013
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The Human Genome Project

• improve tools for data analysis. • determine the sequences of the 3 billion chemical base pairs that make up human DNA. legal.000 genes in human DNA. • store this information in databases. • transfer related technologies to the private sector.Objectives • identify all the approximately 20. and social issues (ELSI) that may arise from the project . and • address the ethical.000-25.

and human migration • DNA forensics (identification) • Agriculture. livestock breeding.Potential Benefits of Human Genome Project Research • • • • Molecular medicine Energy sources and environmental applications Risk assessment Bioarchaeology. and bioprocessing . anthropology. evolution.

Molecular Medicine • Improved diagnosis of disease • Earlier detection of genetic predispositions to disease • Rational drug design • Gene therapy and control systems for drugs • Pharmacogenomics "custom drugs" .

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 .

including low-dose exposures • Assess health damage and risks caused by exposure to mutagenic chemicals and cancercausing toxins • Reduce the likelihood of heritable mutations .Risk Assessment • Assess health damage and risks caused by radiation exposure.

Evolution. and Human Migration • Study evolution through germline mutations in lineages • Study migration of different population groups based on female genetic inheritance • Study mutations on the Y chromosome to trace lineage and migration of males • Compare breakpoints in the evolution of mutations with ages of populations and historical events . Anthropology.Bioarchaeology.

water. soil. and food • Match organ donors with recipients in transplant programs • Determine pedigree for seed or livestock breeds .DNA Forensics (Identification) • Identify potential suspects whose DNA may match evidence left at crime scenes • Exonerate persons wrongly accused of crimes • Identify crime and catastrophe victims • Establish paternity and other family relationships • Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers) • Detect bacteria and other organisms that may pollute air.

disease-resistant farm animals • More nutritious produce • Biopesticides • Edible vaccines incorporated into food products • New environmental cleanup uses for plants like tobacco . more productive. and Bioprocessing • Disease-.Agriculture. insect-. and drought-resistant crops • Healthier. Livestock Breeding.

000.Findings of HGP • The human genome contains 3. • The average gene consists of 3. • The human genome sequence is almost exactly the same (99. • Functions are unknown for more than 50% of discovered genes.2 billion chemical nucleotide base pairs (A. C. much lower than previous estimates of 80. and G). T. but sizes vary greatly.4 million base pairs.000 that had been based on extrapolations from gene-rich areas as opposed to a composite of gene-rich and gene-poor areas. .9%) in all people. with the largest known human gene being dystrophin at 2.000 base pairs. • The total number of genes is estimated at 25.000 to 140.

• About 2% of the genome encodes instructions for the synthesis of proteins. • Repeat sequences that do not code for proteins make up at least 50% of the human genome. .

• Genes appear to be concentrated in random areas along the genome.and AT-rich regions usually can be seen through a microscope as light and dark bands on chromosomes. . with vast expanses of noncoding DNA between.How It's Arranged • The human genome's gene-dense "urban centers" are predominantly composed of the DNA building blocks G and C. the gene-poor "deserts" are rich in the DNA building blocks A and T. • In contrast. GC.

168). • Stretches of up to 30. . including breast cancer. muscle disease. and Y chromosome has the fewest (344). deafness.000 C and G bases repeating over and over often occur adjacent to gene-rich areas. • Chromosome 1 (the largest human chromosome) has the most genes (3. forming a barrier between the genes and the "junk DNA. and blindness." These CpG islands are believed to help regulate gene activity.• Particular gene sequences have been associated with numerous diseases and disorders.

Arabidopsis thaliana • It is a small plant in the mustard family • Arabidopsis thaliana is a model system for genomic studies of plant species • The genome project was started in 1990 .

biochemistry. and pathology .Objectives primary objective of this project has been to • understand the molecular basis of plant growth and development • to address fundamental questions in plant physiology. cell biology.

. availability of numerous mutations. and the environment. small size.Why Arabidopsis • • • • • ability to be transformed. manufacturing. small genome detailed information on specific genes and cellular processes can be readily obtained and rapidly applied to a wide range of plants relevant to agriculture. short life cycle. energy. health.

• Contains a similar number of gene functional classifications as other sequenced eukaryotic genomes . thaliana contains 25.Findings • Genome size is 125 x 106 base pairs (genome sequence first published in December. 2000) • Sequence analysis has indicated that the genome of A.498 genes.

Figure: Distribution of genes in Arabidopsis thaliana .

5% genes that exist as members of large gene families (families of 5 or more members) • Shows evidence of ancient polyploidy: an estimated 58-60% of the Arabidopsis genome exists as large segmental duplications • Arabidopsis centromeric regions.• Number of chromosomes n=5. overall contain at least 47 expressed genes • Arabidopsis genome contains genes encoding RNA polymerase subunits not seen in other eukaryotic organisms • Arabidopsis has many gene families common to plants and animals which have been greatly expanded in plants – for instance. 2n=10 • Has 35% unique genes • Has 37.fold as many aquaporin (water channel) proteins than any other sequenced organism . although largely heterochromatic. Arabidopsis contains 10.

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