Recurrent gene flow between Neanderthals and modern humans over the past 200,000 years
Although it is well known that the ancestors of modern humans and Neanderthals admixed, the effects of gene flow on the Neanderthal genome are not well understood. We develop methods to estimate the amount of human-introgressed sequences in Neanderthals and apply it to whole-genome sequence data from 2000 modern humans and three Neanderthals. We estimate that Neanderthals have 2.5 to 3.7% human ancestry, and we leverage human-introgressed sequences in Neanderthals to revise estimates of Neanderthal ancestry in modern humans, show that Neanderthal population sizes were significantly smaller than previously estimated, and identify two distinct waves of modern human gene flow into Neanderthals. Our data provide insights into the genetic legacy of recurrent gene flow between modern humans and Neanderthals. Our understanding of admixture between humans and Neanderthals has changed dramatically over the past decade and a half. Once thought not to have occurred at all, there is now ample evidence for gene flow from Neanderthals to humans and vice versa. Li et al. used a new framework to model the increasingly complex dynamics of introgression between humans and Neanderthals and the ramifications for both populations. They identified regions of human ancestry in Neanderthals, estimated population sizes for Neanderthals were about 20% lower than previously thought, and proposed the possibility of two pulses of gene flow from humans to Neanderthals. This study comprehensively synthesizes our current knowledge of hominin admixture. ?Corinne N. SimontiAlthough it is well known that the ancestors of modern humans and Neanderthals admixed, the effects of gene flow on the Neanderthal genome are not well understood. We develop methods to estimate the amount of human-introgressed sequences in Neanderthals and apply it to whole-genome sequence data from 2000 modern humans and three Neanderthals. We estimate that Neanderthals have 2.5 to 3.7% human ancestry, and we leverage human-introgressed sequences in Neanderthals to revise estimates of Neanderthal ancestry in modern humans, show that Neanderthal population sizes were significantly smaller than previously estimated, and identify two distinct waves of modern human gene flow into Neanderthals. Our data provide insights into the genetic legacy of recurrent gene flow between modern humans and Neanderthals. Our understanding of admixture between humans and Neanderthals has changed dramatically over the past decade and a half. Once thought not to have occurred at all, there is now ample evidence for gene flow from Neanderthals to humans and vice versa. Li et al. used a new framework to model the increasingly complex dynamics of introgression between humans and Neanderthals and the ramifications for both populations. They identified regions of human ancestry in Neanderthals, estimated population sizes for Neanderthals were about 20% lower than previously thought, and proposed the possibility of two pulses of gene flow from humans to Neanderthals. This study comprehensively synthesizes our current knowledge of hominin admixture. ?Corinne N. Simonti
doi: 10.1126/science.adi1768
