气候变化领域集成服务门户(CCPortal): Sequencing of 50 human exomes reveals adaptation to high altitude

CCPortal

DOI	10.1126/science.1190371
	Sequencing of 50 human exomes reveals adaptation to high altitude
	Yi X.; Liang Y.; Huerta-Sanchez E.; Jin X.; Cuo Z.X.P.; Pool J.E.; Xu N.; Jiang H.; Vinckenbosch N.; Korneliussen T.S.; Zheng H.; Liu T.; He W.; Li K.; Luo R.; Nie X.; Wu H.; Zhao M.; Cao H.; Zou J.; Shan Y.; Li S.; Yang Q.; Asan; Ni P.; Tian G.; Xu J.; Liu X.; Jiang T.; Wu R.; Zhou G.; Tang M.; Qin J.; Wang T.; Feng S.; Li G.; Huasang; Luosang J.; Wang W.; Chen F.; Wang Y.; Zheng X.; Li Z.; Bianba Z.; Yang G.; Wang X.; Tang S.; Gao G.; Chen Y.; Luo Z.; Gusang L.; Cao Z.; Zhang Q.; Ouyang W.; Ren X.; Liang H.; Zheng H.; Huang Y.; Li J.; Bolund L.; Kristiansen K.; Li Y.; Zhang Y.; Zhang X.; Li R.; Li S.; Yang H.; Nielsen R.; Wang J.; Wang J.
发表日期	2010
ISSN	0036-8075
起始页码	75
结束页码	78
卷号	329 期号:5987
英文摘要	Residents of the Tibetan Plateau show heritable adaptations to extreme altitude. We sequenced 50 exornes 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 EPASl 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 EPASl in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude. Copyright 2010 by the American Association for the Advancement of Science; all rights reserved.
英文关键词	activin A; adenosine triphosphatase; alpha interferon; alpha n acetylglucosaminidase; beta globin; disrupted in schizophrenia 1 protein; Fanconi anemia group A protein; hypoxia inducible factor 2alpha; osteopontin; pyruvate kinase; adaptive radiation; allele; ethnicity; genomics; heritability; hypoxia; natural selection; polymorphism; protein; altitude acclimatization; article; China; chromosome 4; erythrocyte; ethnicity; evolutionary adaptation; gene frequency; gene locus; gene sequence; genetic association; human; human genetics; hypoxia; major clinical study; olfactory receptor; population genetics; priority journal; single nucleotide polymorphism; Acclimatization; Altitude; Asian Continental Ancestry Group; Basic Helix-Loop-Helix Transcription Factors; Bayes Theorem; China; Erythrocyte Count; Ethnic Groups; Exons; Female; Gene Frequency; Genetic Association Studies; Genome, Human; Hemoglobins; Humans; Male; Oxygen; Polymorphism, Single Nucleotide; Selection, Genetic; Sequence Analysis, DNA; Tibet
语种	英语
来源期刊	Science
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/246101
作者单位	BGI-Shenzhen, Shenzhen 518083, China; Graduate University of Chinese, Academy of Sciences, Beijing 100062, China; Department of Integrative Biology, University of California Berkeley, Berkeley, CA 94820, United States; Innovative Program for Undergraduate Students, School of Bioscience and Biotechnology, South China University of Technology, Guangzhou 510641, China; People's Hospital of the Tibet Autonomous Region, Lhasa 850000, China; Department of Evolution and Ecology, University of California Davis, Davis, CA 95616, United States; Department of Biology, University of Copenhagen, DK-1165 Copenhagen, Denmark; Innovative Program for Undergraduate Students, School of Science, South China University of Technology, Guangzhou 510641, China; Genome Research Institute, Shenzhen University Medical School, Shenzhen 518060, China; People's Hospital of Lhasa, Lhasa, 850000, China; Military General Hospital of Tibet, Lhasa, 850007, China; Hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong 666100, Yunn...
推荐引用方式 GB/T 7714	Yi X.,Liang Y.,Huerta-Sanchez E.,et al. Sequencing of 50 human exomes reveals adaptation to high altitude[J],2010,329(5987).
APA	Yi X..,Liang Y..,Huerta-Sanchez E..,Jin X..,Cuo Z.X.P..,...&Wang J..(2010).Sequencing of 50 human exomes reveals adaptation to high altitude.Science,329(5987).
MLA	Yi X.,et al."Sequencing of 50 human exomes reveals adaptation to high altitude".Science 329.5987(2010).