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30. New Human Genes

Adam Siepel

Adam Siepel

Adam C. Siepel, Biological Statistics and Computational Biology, and a team of colleagues discovered 300 new human genes and found extensions of several hundred genes already known using evolution-tracking methods. The discovery is based on the idea that as organisms evolve, sections of genetic code that do something useful for the organism change in different ways. The researchers used supercomputers to compare portions of the human genome with those of other mammals. The complete human genome was sequenced several years ago, so the order of the three billion chemical units that make up the genetic code is known, but the exact location of all the short sections that code for proteins or perform regulatory or other functions remains to be identified. Although more than 20,000 protein-coding genes have been identified, this discovery shows that there could be many more genes that have been missed using current biological methods. These methods are effective at finding genes that are widely expressed but may miss those that are expressed only in certain tissues or at early stages of embryonic development. Using the computer as microscope for observing the results of evolution, Siepel’s research group set out to find genes that have been conserved—that are fundamental to all life and have stayed the same, or nearly so, over millions of years of evolution. From building and testing the mathematical models to running final laboratory tests, the project took about three years.

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