Differentiated Demographic Histories and Local Adaptations between Sherpas and Tibetans

To revisit and address four major unresolved issues regarding prehistory, especially the Neolithic history of Sherpas and Tibetans and their hypoxic adaptation: (i) whether they are two genetically different ethnic groups; (ii) whether population substructures exist in either of the two groups; (iii) how long they have diverged from their ancestral group and when the two separated groups started to re-contact by population admixture; and (iv) whether the two groups share major high-altitude adaptation mechanisms. The careful and systematical analysis of these newly sequenced genomes, together with available genotyping data can provide further insight into the genetic origins of Sherpas and Tibetans and uncover their different adaptive mechanisms. We generate or collect genome-wide data in 111 Sherpas (Tibet and Nepal) and 177 Tibetans (Tibet and Qinghai), and analyze these together with available data from present-day human populations. This current dataset includes 65 Chinese Sherpas and 18 Tibetans. To obtain the genotypes for other samples that collected in our analysis, please refer to Peng et al, MBE 2011, Xu et al, MBE 2011, Lou et al, AJHG 2016, Simonson et al, Since 2010, Lu et al, AJHG 2016 and Jeong et al, Nat Comm 2014; and contact the corresponding authors of the above publications.