The history and evolution of the Denisovan-<i>EPAS1</i> haplotype in Tibetans

Abstract

The discovery of the archaic Denisovan hominins is one of the most significant findings in human evolutionary biology in the last decade. However, as of today, we have more questions than answers regarding this mysterious hominin group. This study leverages the information from the well-known example of adaptive introgression on the EPAS1 gene in Tibetans, to gain insight on the history of our species’ interaction with Denisovans. We show that the Tibetan-EPAS1 haplotype came from the East Asian-specific Denisovan introgression event, and it remained selectively neutral for a long time in the population before positive selection occurred, which may be concurrent with the permanent inhabitation of the Tibetan Plateau after the Last Glacial Maximum (LGM).