DOI: 10.1126/science.1190371 ISSN:

Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

Xin Yi, Yu Liang, Emilia Huerta-Sanchez, Xin Jin, Zha Xi Ping Cuo, John E. Pool, Xun Xu, Hui Jiang, Nicolas Vinckenbosch, Thorfinn Sand Korneliussen, Hancheng Zheng, Tao Liu, Weiming He, Kui Li, Ruibang Luo, Xifang Nie, Honglong Wu, Meiru Zhao, Hongzhi Cao, Jing Zou, Ying Shan, Shuzheng Li, Qi Yang, Asan, Peixiang Ni, Geng Tian, Junming Xu, Xiao Liu, Tao Jiang, Renhua Wu, Guangyu Zhou, Meifang Tang, Junjie Qin, Tong Wang, Shuijian Feng, Guohong Li, Huasang, Jiangbai Luosang, Wei Wang, Fang Chen, Yading Wang, Xiaoguang Zheng, Zhuo Li, Zhuoma Bianba, Ge Yang, Xinping Wang, Shuhui Tang, Guoyi Gao, Yong Chen, Zhen Luo, Lamu Gusang, Zheng Cao, Qinghui Zhang, Weihan Ouyang, Xiaoli Ren, Huiqing Liang, Huisong Zheng, Yebo Huang, Jingxiang Li, Lars Bolund, Karsten Kristiansen, Yingrui Li, Yong Zhang, Xiuqing Zhang, Ruiqiang Li, Songgang Li, Huanming Yang, Rasmus Nielsen, Jun Wang, Jian Wang
  • Multidisciplinary
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No Genetic Vertigo

Peoples living in high altitudes have adapted to their situation (see the Perspective by Storz ). To identify gene regions that might have contributed to high-altitude adaptation in Tibetans, Simonson et al. (p. 72 , published online 13 May) conducted a genome scan of nucleotide polymorphism comparing Tibetans, Han Chinese, and Japanese, while Yi et al. (p. 75 ) performed comparable analyses on the coding regions of all genes—their exomes. Both studies converged on a gene, endothelial Per-Arnt-Sim domain protein 1 (also known as hypoxia-inducible factor 2 α), which has been linked to the regulation of red blood cell production. Other genes identified that were potentially under selection included adult and fetal hemoglobin and two functional candidate loci that were correlated with low hemoglobin concentration in Tibetans. Future detailed functional studies will now be required to examine the mechanistic underpinnings of physiological adaptation to high altitudes.

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