The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans.

摘要: Recent studies suggest that admixture with archaic hominins played an important role in facilitating biological adaptations to new environments. For example, interbreeding Denisovans facilitated the adaptation high-altitude environments on Tibetan Plateau. Specifically, EPAS1 gene, a transcription factor regulates response hypoxia, exhibits strong signatures of both positive selection and introgression from individuals. Interestingly, despite being geographically closer Denisova Cave, East Asian populations do not harbor as much Denisovan ancestry Melanesia. Recently, two have suggested independent waves into Asians, one which is shared South Asians Oceanians. Here, we leverage data 78 individuals interrogate these events introduced beneficial sequence ancestral population Tibetans, use distribution introgressed segment lengths at this locus infer timing event. We find event unique most likely haplotype Tibetans around 48,700 (16,000-59,500) y ago, started 9,000 (2,500-42,000) ago. Our estimates convincing examples adaptive fact acting standing variation.