An early modern human from Romania with a recent Neanderthal ancestor

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Abstract
Analysis of DNA from a 37,000–42,000-year-old modern human from Romania reveals that 6–9% of the genome is derived from Neanderthals, with the individual having a Neanderthal ancestor as recently as four to six generations back. This paper presents an analysis of the DNA from a modern human individual from Peştera cu Oase in Romania who lived 37,000–42,000 years ago. This individual male carries 6–9% Neanderthal DNA — compared to just 1–3% reported in other modern Eurasian humans — and given the size of the segments of Neanderthal ancestry in his genome, the authors conclude that he had a Neanderthal among his ancestors four to six generations back in his family tree. This shows that interbreeding between modern humans and Neanderthals was not limited to the Africa and the Near East, but that it occurred in Europe as well. But the population to which the Oase individual belonged did not make a substantial genetic contribution to later humans in Europe. This provides evidence for an early initial migration of modern humans who mixed with Neanderthals but did not contribute to present-day Europeans. Neanderthals are thought to have disappeared in Europe approximately 39,000–41,000 years ago but they have contributed 1–3% of the DNA of present-day people in Eurasia1. Here we analyse DNA from a 37,000–42,000-year-old2 modern human from Peştera cu Oase, Romania. Although the specimen contains small amounts of human DNA, we use an enrichment strategy to isolate sites that are informative about its relationship to Neanderthals and present-day humans. We find that on the order of 6–9% of the genome of the Oase individual is derived from Neanderthals, more than any other modern human sequenced to date. Three chromosomal segments of Neanderthal ancestry are over 50 centimorgans in size, indicating that this individual had a Neanderthal ancestor as recently as four to six generations back. However, the Oase individual does not share more alleles with later Europeans than with East Asians, suggesting that the Oase population did not contribute substantially to later humans in Europe.