Sequencing of 50 human exomes reveals adaptation to high altitude
文献类型：期刊论文
| 作者 | Yi, Xin1,2; Liang, Yu1,2; Huerta-Sanchez, Emilia3,4; Jin, Xin1,5; Cuo, Zha Xi Ping2,6; Pool, John E.3,4,7; Xu, Xun1; Jiang, Hui1; Vinckenbosch, Nicolas3,4; Korneliussen, Thorfinn Sand8 |
| 刊名 | Science
 |
| 出版日期 | 2010-07-02 |
| 卷号 | 329期号:5987页码:75-78 |
| ISSN号 | 0036-8075 |
| DOI | 10.1126/science.1190371 |
| 通讯作者 | Nielsen, rasmus(rasmus_nielsen@berkeley.edu) |
| 英文摘要 | Residents of the tibetan plateau show heritable adaptations to extreme altitude. we sequenced 50 exomes of ethnic tibetans, encompassing coding sequences of 92% of human genes, with an average coverage of 18x per individual. genes showing population-specific allele frequency changes, which represent strong candidates for altitude adaptation, were identified. the strongest signal of natural selection came from endothelial per-arnt-sim (pas) domain protein 1 (epas1), a transcription factor involved in response to hypoxia. one single-nucleotide polymorphism (snp) at epas1 shows a 78% frequency difference between tibetan and han samples, representing the fastest allele frequency change observed at any human gene to date. this snp's association with erythrocyte abundance supports the role of epas1 in adaptation to hypoxia. thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude. |
| WOS关键词 | HEREDITARY HEMOLYTIC-ANEMIA ; POINT MUTATIONS ; GENE ; TIBETAN ; HAN ; SCHIZOPHRENIA ; ASSOCIATION ; HIF-1-ALPHA ; HEMOGLOBIN ; SELECTION |
| WOS研究方向 | Science & Technology - Other Topics |
| WOS类目 | Multidisciplinary Sciences |
| 语种 | 英语 |
| 出版者 | AMER ASSOC ADVANCEMENT SCIENCE |
| WOS记录号 | WOS:000279402700035 |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2406221 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Nielsen, Rasmus |
| 作者单位 | 1.BGI Shenzhen, Shenzhen 518083, Peoples R China 2.Chinese Acad Sci, Grad Univ, Beijing 100062, Peoples R China 3.Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94820 USA 4.Univ Calif Berkeley, Dept Stat, Berkeley, CA 94820 USA 5.S China Univ Technol, Innovat Program Undergrad Students, Sch Biosci & Biotechnol, Guangzhou 510641, Guangdong, Peoples R China 6.Peoples Hosp Tibet Autonomous Reg, Lhasa 850000, Peoples R China 7.Univ Calif Davis, Dept Ecol & Evolut, Davis, CA 95616 USA 8.Univ Copenhagen, Dept Biol, DK-1165 Copenhagen, Denmark 9.S China Univ Technol, Sch Sci, Innovat Program Undergrad Students, Guangzhou 510641, Guangdong, Peoples R China 10.Shenzhen Univ, Genome Res Inst, Sch Med, Shenzhen 518060, Peoples R China |
| 推荐引用方式 GB/T 7714 | Yi, Xin,Liang, Yu,Huerta-Sanchez, Emilia,et al. Sequencing of 50 human exomes reveals adaptation to high altitude[J]. Science,2010,329(5987):75-78. |
| APA | Yi, Xin.,Liang, Yu.,Huerta-Sanchez, Emilia.,Jin, Xin.,Cuo, Zha Xi Ping.,...&Wang, Jian.(2010).Sequencing of 50 human exomes reveals adaptation to high altitude.Science,329(5987),75-78. |
| MLA | Yi, Xin,et al."Sequencing of 50 human exomes reveals adaptation to high altitude".Science 329.5987(2010):75-78. |
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来源：中国科学院大学
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