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Human Genome Project
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• 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
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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
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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