Human Genome Project What did they do? Why did they do it? What will it mean for humankind? Animation OverviewAnimation Overview - Click

Brief history of the work… Proposed in Initiated and funded by NIH and US Dept. of Energy ($3 billion set aside) 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