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Genetic Variants in EPAS1 Contribute to Adaptation to High-Altitude Hypoxia in Sherpas
http://hdl.handle.net/10091/17571
http://hdl.handle.net/10091/175717af16d38-87f1-4e58-a73f-9dc6fa0be287
名前 / ファイル | ライセンス | アクション |
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Genetic_Variants_EPAS1_Contribute_Adaptation.pdf (311.2 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2014-06-05 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Genetic Variants in EPAS1 Contribute to Adaptation to High-Altitude Hypoxia in Sherpas | |||||
言語 | ||||||
言語 | eng | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1371/journal.pone.0050566 | |||||
関連名称 | 10.1371/journal.pone.0050566 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Hanaoka, Masayuki
× Hanaoka, Masayuki× Droma, Yunden× Basnyat, Buddha× Ito, Michiko× Kobayashi, Nobumitsu× Katsuyama, Yoshihiko× Kubo, Keishi× Ota, Masao |
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信州大学研究者総覧へのリンク | ||||||
氏名 | Hanaoka, Masayuki | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.yCLmHVkh.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Ota, Masao | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.ZefVOFkh.html | |||||
出版者 | ||||||
出版者 | PUBLIC LIBRARY SCIENCE | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PLOS ONE. 7(12):e50566 (2012) | |||||
書誌情報 |
PLOS ONE 巻 7, 号 12, 発行日 2012-12-05 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Sherpas comprise a population of Tibetan ancestry in the Himalayan region that is renowned for its mountaineering prowess. The very small amount of available genetic information for Sherpas is insufficient to explain their physiological ability to adapt to high-altitude hypoxia. Recent genetic evidence has indicated that natural selection on the endothelial PAS domain protein 1 (EPAS1) gene was occurred in the Tibetan population during their occupation in the Tibetan Plateau for millennia. Tibetan-specific variations in EPAS1 may regulate the physiological responses to high-altitude hypoxia via a hypoxia-inducible transcription factor pathway. We examined three significant tag single-nucleotide polymorphisms (SNPs, rs13419896, rs4953354, and rs4953388) in the EPAS1 gene in Sherpas, and compared these variants with Tibetan highlanders on the Tibetan Plateau as well as with non-Sherpa lowlanders. We found that Sherpas and Tibetans on the Tibetan Plateau exhibit similar patterns in three EPAS1 significant tag SNPs, but these patterns are the reverse of those in non-Sherpa lowlanders. The three SNPs were in strong linkage in Sherpas, but in weak linkage in non-Sherpas. Importantly, the haplotype structured by the Sherpa-dominant alleles was present in Sherpas but rarely present in non-Sherpas. Surprisingly, the average level of serum erythropoietin in Sherpas at 3440 m was equal to that in non-Sherpas at 1300 m, indicating a resistant response of erythropoietin to high-altitude hypoxia in Sherpas. These observations strongly suggest that EPAS1 is under selection for adaptation to the high-altitude life of Tibetan populations, including Sherpas. Understanding of the mechanism of hypoxia tolerance in Tibetans is expected to provide lights to the therapeutic solutions of some hypoxia-related human diseases, such as cardiovascular disease and cancer. | |||||
資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 1932-6203 | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/23227185 | |||||
関連名称 | 23227185 | |||||
権利 | ||||||
権利情報 | Copyright© 2012 Hanaoka et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
WoS | ||||||
表示名 | Web of Science | |||||
URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000312588200045 |