气候变化领域集成服务门户(CCPortal): Genetic evidence for high-altitude adaptation in Tibet

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DOI	10.1126/science.1189406
	Genetic evidence for high-altitude adaptation in Tibet
	Simonson T.S.; Yang Y.; Huff C.D.; Yun H.; Qin G.; Witherspoon D.J.; Bai Z.; Lorenzo F.R.; Xing J.; Jorde L.B.; Prchal J.T.; Ge R.
发表日期	2010
ISSN	0036-8075
起始页码	72
结束页码	75
卷号	329 期号:5987
英文摘要	Tibetans have lived at very high altitudes for thousands of years, and they have a distinctive suite of physiological traits that enable them to tolerate environmental hypoxia. These phenotypes are clearly the result of adaptation to this environment, but their genetic basis remains unknown. We report genome-wide scans that reveal positive selection in several regions that contain genes whose products are likely involved in high-altitude adaptation. Positively selected haplotypes of EGLN1 and PPARA were significantly associated with the decreased hemoglobin phenotype that is unique to this highland population. Identification of these genes provides support for previously hypothesized mechanisms of high-altitude adaptation and illuminates the complexity of hypoxia-response pathways in humans Copyright 2010 by the American Association for the Advancement of Science; all rights reserved.
英文关键词	angiopoietin like 4; cytochrome P450 2E1; Egl nine homolog 1; endothelial pas domain protein 1; endothelin receptor type a; heme oxygenase 2; hemoglobin; peroxisome proliferator activated receptor alpha; phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase; protein; unclassified drug; adaptive radiation; gene; genetic analysis; genome; hemoglobin; hypothesis testing; hypoxia; identification method; altitude acclimatization; article; China; environment; gene identification; gene locus; gene sequence; genetic analysis; genetic variability; genetics; genome; haplotype; human; hypoxia; major clinical study; phenotype; priority journal; single nucleotide polymorphism; Acclimatization; Altitude; Asian Continental Ancestry Group; Ethnic Groups; Female; Genetic Association Studies; Genetic Variation; Genome, Human; Haplotypes; Hemoglobins; Humans; Hypoxia-Inducible Factor 1; Linear Models; Male; Oxygen; Phenotype; Polymorphism, Single Nucleotide; PPAR alpha; Procollagen-Proline Dioxygenase; Selection, Genetic; Signal Transduction; 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/245502
作者单位	Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, United States; Research Center for High-Altitude Medicine, Qinghai University Medical School, Xining, Qinghai 810001, China; Division of Hematology, Department of Pathology (ARUP), University of Utah School of Medicine, Salt Lake City, UT 84112, United States
推荐引用方式 GB/T 7714	Simonson T.S.,Yang Y.,Huff C.D.,et al. Genetic evidence for high-altitude adaptation in Tibet[J],2010,329(5987).
APA	Simonson T.S..,Yang Y..,Huff C.D..,Yun H..,Qin G..,...&Ge R..(2010).Genetic evidence for high-altitude adaptation in Tibet.Science,329(5987).
MLA	Simonson T.S.,et al."Genetic evidence for high-altitude adaptation in Tibet".Science 329.5987(2010).