Differentiated demographic histories and local adaptations between Sherpas and Tibetans

Genome Biology

Haiyi Lou¹  Yuchen Wang¹  Zhilin Ning¹  Yan Lu¹  Ying Zhou¹  Lian Deng¹  Shuhua Xu¹  Jiaojiao Liu¹  Chao Zhang¹  Qidi Feng¹  Kai Yuan¹  Xiaoji Wang¹  Lifeng Ma²  Longli Kang²  Lijun Liu²  Zhiying Zhang²  Shilin Li³  Yajun Yang³  Li Jin³  Bing Su⁴ 

[1] Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, Max Planck Independent Research Group on Population Genomics, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, CAS;Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University;State Key Laboratory of Genetic Engineering and Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University;State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences;

关键词: Sherpa;    Tibetan;    Next-generation sequencing;    High-altitude adaptation;    Population history;    Gene flow;   

DOI  :  10.1186/s13059-017-1242-y

来源: DOAJ

【 摘 要 】

Abstract Background The genetic relationships reported by recent studies between Sherpas and Tibetans are controversial. To gain insights into the population history and the genetic basis of high-altitude adaptation of the two groups, we analyzed genome-wide data in 111 Sherpas (Tibet and Nepal) and 177 Tibetans (Tibet and Qinghai), together with available data from present-day human populations. Results Sherpas and Tibetans show considerable genetic differences and can be distinguished as two distinct groups, even though the divergence between them (~3200–11,300 years ago) is much later than that between Han Chinese and either of the two groups (~6200–16,000 years ago). Sub-population structures exist in both Sherpas and Tibetans, corresponding to geographical or linguistic groups. Differentiation of genetic variants between Sherpas and Tibetans associated with adaptation to either high-altitude or ultraviolet radiation were identified and validated by genotyping additional Sherpa and Tibetan samples. Conclusions Our analyses indicate that both Sherpas and Tibetans are admixed populations, but the findings do not support the previous hypothesis that Tibetans derive their ancestry from Sherpas and Han Chinese. Compared to Tibetans, Sherpas show higher levels of South Asian ancestry, while Tibetans show higher levels of East Asian and Central Asian/Siberian ancestry. We propose a new model to elucidate the differentiated demographic histories and local adaptations of Sherpas and Tibetans.

【 授权许可】

Unknown