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Increasingly sophisticated analysis of existing genomes from Neanderthal and Denisovan fossil bone, together with new data on single-chromosome DNA extracted from Croatian and Spanish Neanderthals continues to break new ground.
According to genome comparison between a Siberian specimen and modern humans, a population from which Neanderthals emerged separated from that which led to anatomically modern humans (AMH) sometime between 550 and 765 ka, although the fossil record can only confirm that divergence was before 430 ka. The comparison famously showed that Neanderthals contributed to modern, non-African humans between 47 and 75 ka, that is after the exodus of AMH from Africa that spread our species throughout all continents except Antarctica. This genetic exchange is thought to have taken place somewhere in the Middle East, which seems to have been a major staging post for our spread further east and also westward to Europe. A similar indication of liaison between Denisovans and AMH migrants is restricted to modern Melanesians, and probably took place in eastern Asia before 45 ka, when modern people began crossing from Eurasia to New Guinea and Australia. Neanderthal-Denisovan comparison suggests that those distinct groups separated between 380 and 470 ka ago (recently revised from an earlier estimate).
In both cases the gene flow was from the older groups to humans. Further examination of Siberian Neanderthal genomes now indicates that a reverse exchange occurred more than 100 ka ago (Kuhlwilm, M. and 21 others 2016. Ancient gene flow from early modern humans into Eastern Neanderthals. Nature, v. 530, p. 429-433). But the single-chromosome DNA from Croatian and Spanish Neanderthals shows no such sign This instance of two-way exchange is significant in another way: it took place before direct evidence of the generally accepted departure of African migrants to populate the rest of the world. At about 100 ka there is fossil evidence of possible AMH-Neanderthal cohabitation of the Levant, followed by a period with fossil evidence for Neanderthal presence there but not modern humans. Because stone tools from northern Arabia are dated as far back as 125 ka and closely resemble those associated with archaic modern humans, there is a possibility that AMH migration was far earlier than previously thought and passed through the Levant en route to points east.
Another tantalizing aspect of Neanderthal-modern human genetics is the tangible legacy of interbreeding with non-African humans. The first sign was that the gene (mc1r) that confers red hair on those of us blessed, or otherwise, with it may have Neanderthal origins, thus making us extremely proud of that heritage. The same gene is implicated in northern modern humans having developed pale skin, which might embarrass ‘white supremacists’! Similar studies in Svante Paabo’s lab at the Max Planck Institute for Evolutionary Anthropology in Leipzig also suggested 15 genome regions that include those involved in energy metabolism, possibly associated with type 2 diabetes; cranial shape and cognitive abilities, perhaps linked to Down’s syndrome, autism and schizophrenia; wound healing; skin, sweat glands, hair follicles and skin pigmentation; and barrel chests. There is more…
Joshua Akey of the University of Washington, Seattle, and evolutionary genomicist Tony Capra of Vanderbilt University in Nashville hit on the idea of ‘mining’ archived genetic information from more than 28 thousand living people for traces of 6000 Neanderthal DNA variants and comparing the results with physical traits and diseases logged in the human database (reported by Gibbons, A. 2016. Neanderthal genes linked to modern diseases. Science, v. 351, p. 648-9). On the plus side, Neanderthal ancestry may help boost immune responses to fungi, parasites and bacteria. Inheritance of enhanced blood coagulation, although greatly assisting recovery from wounds and hemorrhage when giving birth, confers a proclivity to heart attacks and strokes. Neanderthals also passed on ‘weak bladders’, solar keratoses that confer skin cancer risk, a tendency to malnutrition from modern diets low on meat and nuts, depression triggered by jet lag(!) and even a tendency to nicotine addiction. But a ‘pure’ line of modern human descent, shared by most Africans, also has its positive and negative heritable traits.