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  • 1
    Publication Date: 2010-05-15
    Description: 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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Simonson, Tatum S -- Yang, Yingzhong -- Huff, Chad D -- Yun, Haixia -- Qin, Ga -- Witherspoon, David J -- Bai, Zhenzhong -- Lorenzo, Felipe R -- Xing, Jinchuan -- Jorde, Lynn B -- Prchal, Josef T -- Ge, RiLi -- 1P01CA108671-01A2/CA/NCI NIH HHS/ -- DK069513/DK/NIDDK NIH HHS/ -- GM059290/GM/NIGMS NIH HHS/ -- HL50077/HL/NHLBI NIH HHS/ -- R00 HG005846/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2010 Jul 2;329(5987):72-5. doi: 10.1126/science.1189406. Epub 2010 May 13.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="" target="_blank"〉PubMed〈/a〉
    Keywords: *Acclimatization ; *Altitude ; Asian Continental Ancestry Group/genetics ; Ethnic Groups/genetics ; Female ; Genetic Association Studies ; Genetic Variation ; Genome, Human ; Haplotypes ; Hemoglobins/*analysis ; Humans ; Hypoxia-Inducible Factor 1/metabolism ; Hypoxia-Inducible Factor-Proline Dioxygenases ; Linear Models ; Male ; *Oxygen ; PPAR alpha/*genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Procollagen-Proline Dioxygenase/*genetics ; *Selection, Genetic ; Signal Transduction ; Tibet
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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