@article {333801, title = {Ancestral Origins and Genetic History of Tibetan Highlanders}, journal = {The American Journal of Human Genetics}, volume = {99}, year = {2016}, month = {2016/09}, pages = {580-594}, abstract = {

The origin of Tibetans remains one of the most contentious puzzles in history, anthropology, and\ genetics. Analyses of deeply sequenced (30\×\–60\×) genomes of 38 Tibetan highlanders and 39 Han Chinese lowlanders, together with available data on archaic and modern humans, allow us to comprehensively characterize the ancestral makeup of Tibetans and uncover their origins. Non-modern human sequences compose \∼6\% of the Tibetan gene pool and form unique haplotypes in some genomic regions, where Denisovan-like, Neanderthal-like, ancient-Siberian-like, and unknown ancestries are entangled and elevated. The shared ancestry of Tibetan-enriched sequences dates back to \∼62,000\–38,000 years ago, predating the Last Glacial Maximum (LGM) and representing early colonization of the plateau. Nonetheless, most of the Tibetan gene pool is of modern human origin and diverged from that of Han Chinese \∼15,000 to \∼9,000 years ago, which can be largely attributed to post-LGM arrivals. Analysis of \∼200 contemporary populations showed that Tibetans share ancestry with populations from East Asia (\∼82\%), Central Asia and Siberia (\∼11\%), South Asia (\∼6\%), and western Eurasia and Oceania (\∼1\%). Our results support that Tibetans arose from a mixture of multiple ancestral gene pools but that their origins are much more complicated and ancient than previously suspected. We provide compelling evidence of the co-existence of Paleolithic and Neolithic ancestries in the Tibetan gene pool, indicating a genetic continuity between pre-historical highland-foragers and present-day Tibetans. In particular, highly differentiated sequences harbored in highlanders\’ genomes were most likely inherited from pre-LGM settlers of multiple ancestral origins (SUNDer) and maintained in high frequency by\ natural selection.

}, isbn = {0002-9297}, doi = {http://dx.doi.org/10.1016/j.ajhg.2016.07.002}, url = {https://www.sciencedirect.com/science/article/pii/S0002929716302737?via\%3Dihub}, author = {Lu, Dongsheng and Lou, Haiyi and Yuan, Kai and Wang, Xiaoji and Wang, Yuchen and Zhang, Chao and Lu, Yan and Yang, Xiong and Deng, Lian and Zhou, Ying and Feng, Qidi and Hu, Ya and Ding, Qiliang and Yang, Yajun and Li, Shilin and Jin, Li and Guan, Yaqun and Su, Bing and Kang, Longli and Xu, Shuhua} }