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Neandertal genome sequence published in Science
Date:5/6/2010

regions with sequence variations that occur frequently in humans but not in Neandertals, suggesting human-specific selection. Any variation shared with Neandertals would presumably have been lost from these regions as the new genes swept through the early modern human population. The team found 212 regions with such variation. Among the 20 regions with the strongest evidence for positive selection were three genes that, when mutated, affect mental and cognitive development. These genes have been implicated in Down syndrome, schizophrenia and autism.

Other regions in this list of 20 included a gene involved in energy metabolism, and another that affects the development of the cranial skeleton, the clavicle and the rib cage.

"In all these cases it requires much, much more work. This is really just hints at what genes one should now study, and I'm sure we and many other groups will be doing that," Pbo said.

The researchers also used the Neandertal genome to produce the first version of a catalog of genetic features that exist in all humans today but are not found in Neandertals or apes. This catalog will be valuable for scientists who study what sets humans apart from other organisms.

In a companion paper appearing in the same issue of the journal, another research team with many of the same authors and also led by Pbo present a new technique to sequence select regions of the Neandertal genome from especially degraded Neandertal remains. Using a "target sequence capture" approach, the authors sharpened their focus on the protein-coding regions within several pieces of the genome of another Neandertal individual from Spain. They identified 88 amino acid substitutions that have become fixed in humans since our divergence from the Neandertals. More research will be necessary to determine how these changes may have affected human biology.


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Contact: Natasha Pinol
npinol@aaas.org
202-326-7088
American Association for the Advancement of Science
Source:Eurekalert

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