Limits of long-term selection against Neandertal introgression

Abstract

Since the discovery that all non-Africans inherit 2% of their genomes from Neandertal ancestors, there has been a great interest in understanding the fate and effects of introgressed Neandertal DNA in modern humans. A number of recent studies have claimed that there has been continuous selection against introgressed Neandertal DNA over the last 55,000 years. Here, we show that there has been no long-term genome-wide removal of Neandertal DNA, and that the previous result was due to incorrect assumptions about gene flow between African and non-African populations. Nevertheless, selection did occur following introgression, and its effect was strongest in regulatory regions, suggesting that Neandertals may have differed from humans more in their regulatory than in their protein-coding sequences. Keywords: Neandertal, selection, introgression, modern human, demography