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Human Genome Project Animation Overview - Click • What did they do? • Why did they do it? • What will it mean for humankind? Brief history of the work… • Proposed in 1985 • 1988. Initiated and funded by NIH and US Dept. of Energy ($3 billion set aside) • 1990. Work begins. • Published in Science and Nature in February, 2001 Goals of HGP • Create map of the 22 human chromosomes, X / Y) • Identify the entire set of genes & map them all to their chromosomes • Determine the nucleotide sequences of the estimated 3 billion base pairs • Analyze genetic variation among humans Model organisms • • • • • Bacteria (E. coli, influenza, several others) Yeast (Saccharomyces cerevisiae) Plant (Arabidopsis thaliana) Fruit fly (Drosophila melanogaster) Mouse (Mus musculus) Goals of HGP (cont’d) • Develop new laboratory and computing technologies to make all this possible • Disseminate genome information • Consider ethical, legal, and social issues associated with this research How they did it… • DNA from 5 humans • 2 males, 3 females • 2 caucasians, one each of asian, african, hispanic • Cut up DNA with restriction enzymes • Sequenced the fragments • Let a supercomputer put the pieces together Human genome content • • • • 1-2 % codes for protein products 24% important for translation 75% “junk” Repetitive elements – Transposons – Retrotransposons BOOK THAT WROTE ITSELF Comparative Genomics Yeast • 70 human genes are known to repair mutations in yeast •Nearly all we know about cell cycle and cancer comes from studies of yeast •Advantages: •fewer genes (6000) •few introns • 31% of yeast genes give same products as human homologues Drosophila • nearly all we know of how mutations affect gene function come from Drosophila studies •We share 50% of their genes •61% of genes mutated in 289 human diseases are found in fruit flies •68% of genes associated with cancers are found in fruit flies Mouse • known as “mini” humans •Very similar physiological systems •Share 90% of their genes