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Neanderthal Bone Yields Complete Mitochondrial Genome

Jennifer Viegas, Discovery News

"One sensible explanation for this could be a very small effective population size," Green said, explaining that only a few thousand Neanderthals may have roamed Europe around 40,000 years ago, close to when they went extinct.

It's unclear if this was a general feature of the Neanderthal population, perhaps explained by the fact that they had to deal with repeated glaciations, or if some population bottleneck "happened late in the game," he said.

Perhaps the biggest modern human revelation to come out of the project is that there was an explosion of certain amino acid substitutions within the human genome after the Neanderthal/human split.

"What we can say is that there was a lot of change in a very short time within modern humans," Green said. "Further work will be necessary to say what the consequences of these changes were."

John Hawks, assistant professor of anthropology at the University of Wisconsin, Madison, told Discovery News that he has "been waiting a long time for this sequence to come out," adding that "all previously reported sequences of Neanderthal mtDNA" were fragmentary when compared to this one.

Geneticist David Reich at the Harvard Medical School also agrees that the newly sequenced genome "is exciting and important."

"The most striking thing about the paper is that it shows that the authors are able to get an extremely reliable DNA sequence out of a (38,000-year-old) Neanderthal fossil especially when they do a large amount of DNA sequencing," Reich told Discovery News, mentioning that it then "becomes obvious that the sequence the authors are obtaining is correct."

Green and his team are already at work on yet another Neanderthal genome project -- sequencing the complete Neanderthal nuclear genome -- that should be finished by the end of the year. It should answer, once and for all, whether or not modern humans and Neanderthals interbred to such a degree that the mixing would have resulted in a Neanderthal genetic contribution to the modern human gene pool.

Related Links:

Jennifer Viegas' blog: Born Animal

Max Planck Institute for Evolutionary Anthropology

Human Genome Project

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