Abstract
Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in this population could provide insight into coordinated physiological responses to this environment. Here we examine genomic and phenotypic variation in this unique population and present the first complete analysis of a Mongolian whole-genome sequence. High-density SNP array data demonstrate that DU Mongolians share genetic ancestry with other Mongolian as well as Tibetan populations, specifically in genomic regions related with adaptation to high altitude. Several selection candidate genes identified in DU Mongolians are shared with other Asian groups (e.g., EDAR), neighboring Tibetan populations (including high-altitude candidates EPAS1, PKLR, and CYP2E1), as well as genes previously hypothesized to be associated with metabolic adaptation (e.g., PPARG). Hemoglobin concentration, a trait associated with high-altitude adaptation in Tibetans, is at an intermediate level in DU Mongolians compared to Tibetans and Han Chinese at comparable altitude. Whole-genome sequence from a DU Mongolian (Tianjiao1) shows that about 2% of the genomic variants, including more than 300 protein-coding changes, are specific to this individual. Our analyses of DU Mongolians and the first Mongolian genome provide valuable insight into genetic adaptation to extreme environments.
Highlights
Prehistoric Mongolian ancestry can be traced to the Gobi and Mongolian steppes in Northeastern Asia, yet Mongolian lineages are found among present-day inhabitants of regions as far west as Eastern Europe [1,2,3]
500 years ago, nomadic Deedu (DU; ‘‘at high altitude’’) Mongolians migrated from the Mongolian steppes to the northeastern highlands of the Qinghai-Tibetan Plateau
Using highdensity SNP data, we demonstrate that present-day DU Mongolians share genetic ancestry with other Mongolians and with Tibetans
Summary
Prehistoric Mongolian ancestry can be traced to the Gobi and Mongolian steppes in Northeastern Asia, yet Mongolian lineages are found among present-day inhabitants of regions as far west as Eastern Europe [1,2,3] This vast genetic signature is largely attributed to population movements during the time of Genghis Khan [3,4], whose efforts to unite Eurasian tribes during the 13th century helped to establish one of the largest contiguous empires in human history (12 million square miles) [5,6]. More than 500 years ago, the nomadic Deedu (‘‘at high altitude’’) Mongolians (referred to as ‘‘DU Mongolians’’ hereafter) migrated from the Mongol steppes to the northeastern section of the Qinghai-Tibetan Plateau [5,6,9] In this new environment (,3000 meters above sea level), they have been further challenged by hypoxic conditions. While it is unlikely that genomewide selection analyses would identify selective events that occurred since their arrival into the Qinghai-Tibetan Plateau about 25 generations ago, we hypothesize that shared ancestry and recent
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