Article
Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation.
Molecular biology and evolution - 1 Aug 2013
Xiang Kun, Ouzhuluobu, Peng Yi, Yang Zhaohui, Zhang Xiaoming, Cui Chaoying, Zhang Hui, Li Ming, Zhang Yanfeng, Bianba, Gonggalanzi, Basang, Ciwangsangbu, Wu Tianyi, Chen Hua, Shi Hong, Qi Xuebin, Su Bing
Abstract excerpt
Tibetans are well adapted to high-altitude hypoxic conditions, and in recent genome-wide scans, many candidate genes have been reported involved in the physiological response to hypoxic conditions. However, the limited sequence variations analyzed in previous studies would not be sufficient to identify causal mutations. Here we conducted resequencing of the entire genomic region (59.4 kb) of the hypoxic gene...
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