Signals of recent introgression in the human genome

This week we will discuss a study on An early modern human from Romania with a recent Neanderthal ancestor which was recently published in Nature. In the study Fu and colleagues report findings of 6-9% neanderthal DNA in a modern human.

An early modern human from Romania with a recent Neanderthal ancestor (Fu et al. 2015, Nature)


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 Eurasia. Here we analyse DNA from a 37,000–42,000-year-old modern human from Pe ̧stera 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. 

Published Sep. 14, 2015 12:00 PM - Last modified Mar. 8, 2021 12:55 PM