現(xiàn)代人大約10萬年前走出非洲并擴散到世界各地，他們在史前遷徙的過程中會面臨新環(huán)境的生存挑戰(zhàn),。世襲在青藏高原的藏民族對高原缺氧的環(huán)境具有很好的適應力,，但其適應的遺傳機制長期以來一直是未解之謎,。
宿兵研究員課題組（博士生彭憶、楊召輝,，研實員張慧和副研究員石宏等）和西藏大學以及美國哈佛醫(yī)學院的科研人員合作，對藏族高海拔適應性的遺傳學機制開展了系統(tǒng)的研究,。經(jīng)過全基因組單核苷酸序列多態(tài)（SNP）芯片掃描,，他們發(fā)現(xiàn)EPAS1 和 EGLN1這兩個低氧相關基因在藏族人群中有很強的自然選擇信號，且與漢族在單倍型頻率上表現(xiàn)出很大的差異,。通過對EPAS1基因的全測序分析,，發(fā)現(xiàn)這個基因在藏族人群中發(fā)生了很強的自然選擇，選擇時間大約至少1.8萬年以上,。這一結果從分子水平初步揭示了藏族高原適應的遺傳學機制,。研究結果發(fā)表于國際知名刊物Molecular Biology and Evolution。（生物谷Bioon.com）
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生物谷推薦英文摘要：
Mol Biol Evol doi: 10.1093/molbev/msq290
Genetic variations in Tibetan populations and high altitude adaptation at the Himalayas
Yi Peng1,6,7, Zhaohui Yang1,6,7, Hui Zhang1,7, Chaoying Cui2,7, Xuebin Qi1, Xiongjian Luo1, Xiang Tao3, Tianyi Wu3, Ouzhuluobu2, Basang4, Ciwangsangbu4, Danzengduojie4, Hua Chen5, Hong Shi1,* and Bing Su1,*
1State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology and Kunming Primate Research Center, Chinese Academy of Sciences, Kunming 650223, China
2School of Medicine, Tibetan University, Lhasa 850000, China
3National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China
4People's Hospital of Dangxiong County, Dangxiong 851500, China
5Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
6Graduate School of Chinese Academy Sciences, Beijing 100101, China
Modern humans have occupied almost all possible environments globally since exiting Africa about 100,000 years ago. Both behavioral and biological adaptations have contributed to their success in surviving the rigors of climatic extremes including cold, strong UV radiation and high altitude. Among these environmental stresses, high-altitude hypoxia is the only condition in which traditional technology is incapable of mediating its effects. Inhabiting at >3,000-m high plateau, the Tibetan population provides a widely studied example of high altitude adaptation. Yet, the genetic mechanisms underpinning long-term survival in this environmental extreme remain unknown. We performed an analysis of genome-wide sequence variations in Tibetans. In combination with the reported data, we identified strong signals of selective sweep in two hypoxia-related genes, EPAS1 and EGLN1. For these two genes, Tibetans show unusually high divergence from the non-Tibetan lowlanders (Han Chinese and Japanese) and possess high frequencies of many linked sequence variations as reflected by the Tibetan-specific haplotypes. Further analysis in seven Tibetan populations (1,334 individuals) indicates the prevalence of selective sweep across the Himalayan region. The observed indicators of natural selection on EPAS1 and EGLN1 suggest that during the long-term occupation of high altitude areas, the functional sequence variations for acquiring biological adaptation to high-altitude hypoxia have been enriched in Tibetan populations.
