Ancestral Origins and Genetic History of Tibetan Highlanders

Ancestral Origins and Genetic History of Tibetan Highlanders


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.


  • Lu, D., Lou, H., Yuan, K., Wang, X., Wang, Y., Zhang, C., Lu, Y., Yang, X., Deng, L., Zhou, Y., Feng, Q., Hu, Y., Ding, Q., Yang, Y., Li, S., Jin, L., Guan, Y., Su, B., Kang, L., Xu, S. (2016). Ancestral Origins and Genetic History of Tibetan Highlanders. American journal of human genetics, in press, in press.

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Peoples: Han Chinese and Tibetan highlanders | Places: Tibetan Plateau | Topics: Neolithic, Paleolithic, and Tibetan gene pool | DNA Type: Autosomal DNA

1 thought on “Ancestral Origins and Genetic History of Tibetan Highlanders”

  1. But, The Tibetan Highlanders have own Y DNA Haplogroup D1-M15 and mtDNA Hg M9. Interestingly an mtDNA Hg M9 was an ancestors for mtDNA Hg E which this Maternal Line were more common in ISEA / Island Southeast Asia. Allright, maybe some Tibetans men have Y DNA Hg O-M7, M134 and M117, but these Haplogroups are strongly associated with Sino Tibetan, Tibeto Burmese and Y DNA Hg O-M7 for The Hmongs people in South China. I saw on Wikipedia when a Tibetan Highlanders have similar Maternal Line with a Northern Chinese, Japanese, Korean and some Northeast Asian, with an mtDNA Hg M9, CZ, C, Z, D and ‘perhaps’ Haplogroup G markers and all of these Maternal Haplogroups were the descendants from mtDNA Macrohaplogroup M*. I saw on internet when Mostly Tibetan people have a small amound The Denisovans DNA.

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