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Volumn 7, Issue 12, 2012, Pages

Genetic Variants in EPAS1 Contribute to Adaptation to High-Altitude Hypoxia in Sherpas

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; HYPOXIA INDUCIBLE FACTOR;

EID: 84870773560     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0050566     Document Type: Article
Times cited : (62)

References (41)
  • 2
    • 84870845672 scopus 로고    scopus 로고
    • Tapting Samaj Sewa. Sherpa History. Available: http://www.tapting.org/?section=page_content&action=browse&page=8. Accessed 2012 Sep 5.
  • 3
    • 0018146172 scopus 로고
    • Anthropometry of Sherpa men
    • Sloan AW, Masali M, (1978) Anthropometry of Sherpa men. Ann Hum Biol 5: 453-458.
    • (1978) Ann Hum Biol , vol.5 , pp. 453-458
    • Sloan, A.W.1    Masali, M.2
  • 5
    • 0029151795 scopus 로고
    • Enhanced cardiac metabolism of plasma glucose in high-altitude natives: adaptation against chronic hypoxia
    • Holden JE, Stone CK, Clark CM, Brown WD, Nickles RJ, et al. (1995) Enhanced cardiac metabolism of plasma glucose in high-altitude natives: adaptation against chronic hypoxia. J Appl Physiol 79: 222-228.
    • (1995) J Appl Physiol , vol.79 , pp. 222-228
    • Holden, J.E.1    Stone, C.K.2    Clark, C.M.3    Brown, W.D.4    Nickles, R.J.5
  • 6
    • 0029759199 scopus 로고    scopus 로고
    • Sherpa brain glucose metabolism and defense adaptations against chronic hypoxia
    • Hochachka PW, Clark CM, Monge C, Stanley C, Brown WD, et al. (1996) Sherpa brain glucose metabolism and defense adaptations against chronic hypoxia. J Appl Physiol 81: 1355-1361.
    • (1996) J Appl Physiol , vol.81 , pp. 1355-1361
    • Hochachka, P.W.1    Clark, C.M.2    Monge, C.3    Stanley, C.4    Brown, W.D.5
  • 7
    • 0017139577 scopus 로고
    • A study of several genetic biochemical markers in Sherpas with description of some variant phenotypes
    • Santachiara-Benerecetti AS, Baur EW, Beretta M, Ranzani G, Morpurgo G, et al. (1976) A study of several genetic biochemical markers in Sherpas with description of some variant phenotypes. Hum Hered 26: 351-359.
    • (1976) Hum Hered , vol.26 , pp. 351-359
    • Santachiara-Benerecetti, A.S.1    Baur, E.W.2    Beretta, M.3    Ranzani, G.4    Morpurgo, G.5
  • 8
    • 33846493086 scopus 로고    scopus 로고
    • Genetic contribution of the endothelial nitric oxide synthase gene to high altitude adaptation in Sherpas
    • Droma Y, Hanaoka M, Basnyat B, Arjyal A, Neupane P, et al. (2006) Genetic contribution of the endothelial nitric oxide synthase gene to high altitude adaptation in Sherpas. High Alt Med Biol 7: 209-220.
    • (2006) High Alt Med Biol , vol.7 , pp. 209-220
    • Droma, Y.1    Hanaoka, M.2    Basnyat, B.3    Arjyal, A.4    Neupane, P.5
  • 9
    • 41149121726 scopus 로고    scopus 로고
    • Adaptation to high altitude in Sherpas: association with the insertion/deletion polymorphism in the Angiotensin-converting enzyme gene
    • Droma Y, Hanaoka M, Basnyat B, Arjyal A, Neupane P, et al. (2008) Adaptation to high altitude in Sherpas: association with the insertion/deletion polymorphism in the Angiotensin-converting enzyme gene. Wilderness Environ Med 19: 22-29.
    • (2008) Wilderness Environ Med , vol.19 , pp. 22-29
    • Droma, Y.1    Hanaoka, M.2    Basnyat, B.3    Arjyal, A.4    Neupane, P.5
  • 10
    • 0028040151 scopus 로고
    • Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude
    • Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, et al. (1994) Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol 93: 189-199.
    • (1994) Am J Phys Anthropol , vol.93 , pp. 189-199
    • Torroni, A.1    Miller, J.A.2    Moore, L.G.3    Zamudio, S.4    Zhuang, J.5
  • 11
    • 0031259762 scopus 로고    scopus 로고
    • Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders
    • Beall CM, Strohl KP, Blangero J, Williams-Blangero S, Decker MJ, et al. (1997) Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. Hum Biol 69: 597-604.
    • (1997) Hum Biol , vol.69 , pp. 597-604
    • Beall, C.M.1    Strohl, K.P.2    Blangero, J.3    Williams-Blangero, S.4    Decker, M.J.5
  • 12
    • 77954926596 scopus 로고    scopus 로고
    • Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders
    • Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, et al. (2010) Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A 107: 11459-11464.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 11459-11464
    • Beall, C.M.1    Cavalleri, G.L.2    Deng, L.3    Elston, R.C.4    Gao, Y.5
  • 13
    • 77954319663 scopus 로고    scopus 로고
    • Genetic evidence for high-altitude adaptation in Tibet
    • Simonson TS, Yang Y, Huff CD, Yun H, Qin G, et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. Science 329: 72-75.
    • (2010) Science , vol.329 , pp. 72-75
    • Simonson, T.S.1    Yang, Y.2    Huff, C.D.3    Yun, H.4    Qin, G.5
  • 14
    • 77954319020 scopus 로고    scopus 로고
    • Sequencing of 50 human exomes reveals adaptation to high altitude
    • Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, et al. (2010) Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329: 75-78.
    • (2010) Science , vol.329 , pp. 75-78
    • Yi, X.1    Liang, Y.2    Huerta-Sanchez, E.3    Jin, X.4    Cuo, Z.X.5
  • 15
    • 78751489036 scopus 로고    scopus 로고
    • A genome-wide search for signals of high-altitude adaptation in Tibetans
    • Xu S, Li S, Yang Y, Tan J, Lou H, et al. (2010) A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol Biol Evol 28: 1003-1011.
    • (2010) Mol Biol Evol , vol.28 , pp. 1003-1011
    • Xu, S.1    Li, S.2    Yang, Y.3    Tan, J.4    Lou, H.5
  • 16
    • 78751545966 scopus 로고    scopus 로고
    • Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas
    • Peng Y, Yang Z, Zhang H, Cui C, Qi X, et al. (2010) Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol Biol Evol 28: 1075-1081.
    • (2010) Mol Biol Evol , vol.28 , pp. 1075-1081
    • Peng, Y.1    Yang, Z.2    Zhang, H.3    Cui, C.4    Qi, X.5
  • 17
    • 79952229166 scopus 로고    scopus 로고
    • On the origin of Tibetans and their genetic basis in adapting high-altitude environments
    • doi:10.1371/journal.pone.0017002
    • Wang B, Zhang YB, Zhang F, Lin H, Wang X, et al. (2011) On the origin of Tibetans and their genetic basis in adapting high-altitude environments. PLoS ONE 6(2): e17002 doi:10.1371/journal.pone.0017002.
    • (2011) PLoS ONE , vol.6 , Issue.2
    • Wang, B.1    Zhang, Y.B.2    Zhang, F.3    Lin, H.4    Wang, X.5
  • 18
    • 76249086956 scopus 로고    scopus 로고
    • Identifying positive selection candidate loci for high-altitude adaptation in Andean populations
    • Bigham AW, Mao X, Mei R, Brutsaert T, Wilson MJ, et al. (2009) Identifying positive selection candidate loci for high-altitude adaptation in Andean populations. Hum Genomics. 4: 79-90.
    • (2009) Hum Genomics , vol.4 , pp. 79-90
    • Bigham, A.W.1    Mao, X.2    Mei, R.3    Brutsaert, T.4    Wilson, M.J.5
  • 19
    • 38049173572 scopus 로고    scopus 로고
    • A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    • Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, et al. (2008) A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 358: 162-168.
    • (2008) N Engl J Med , vol.358 , pp. 162-168
    • Percy, M.J.1    Furlow, P.W.2    Lucas, G.S.3    Li, X.4    Lappin, T.R.5
  • 21
    • 0034466057 scopus 로고    scopus 로고
    • Tibetan and Andean contrasts in adaptation to high-altitude hypoxia
    • Beall CM, (2000) Tibetan and Andean contrasts in adaptation to high-altitude hypoxia. Adv Exp Med Biol 475: 63-74.
    • (2000) Adv Exp Med Biol , vol.475 , pp. 63-74
    • Beall, C.M.1
  • 22
    • 0141458115 scopus 로고    scopus 로고
    • Hematological differences during growth among Tibetans and Han Chinese born and raised at high altitude in Qinghai, China
    • Garruto RM, Chin CT, Weitz CA, Liu JC, Liu RL, et al. (2003) Hematological differences during growth among Tibetans and Han Chinese born and raised at high altitude in Qinghai, China. Am J Phys Anthropol 122: 171-183.
    • (2003) Am J Phys Anthropol , vol.122 , pp. 171-183
    • Garruto, R.M.1    Chin, C.T.2    Weitz, C.A.3    Liu, J.C.4    Liu, R.L.5
  • 23
    • 0037072457 scopus 로고    scopus 로고
    • Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema
    • Droma Y, Hanaoka M, Ota M, Katsuyama Y, Koizumi T, et al. (2002) Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema. Circulation 106: 826-830.
    • (2002) Circulation , vol.106 , pp. 826-830
    • Droma, Y.1    Hanaoka, M.2    Ota, M.3    Katsuyama, Y.4    Koizumi, T.5
  • 24
    • 4544222959 scopus 로고    scopus 로고
    • Polymorphisms of renin-angiotensin system genes with high-altitude pulmonary edema in Japanese subjects
    • Hotta J, Hanaoka M, Droma Y, Katsuyama Y, Ota M, et al. (2004) Polymorphisms of renin-angiotensin system genes with high-altitude pulmonary edema in Japanese subjects. Chest 126: 825-830.
    • (2004) Chest , vol.126 , pp. 825-830
    • Hotta, J.1    Hanaoka, M.2    Droma, Y.3    Katsuyama, Y.4    Ota, M.5
  • 25
    • 84864881044 scopus 로고    scopus 로고
    • Gene polymorphisms and high-altitude pulmonary edema susceptibility: A 2011 Update
    • doi: 10.1159/000336625
    • Luo Y, Zou Y, Gao Y (2012) Gene polymorphisms and high-altitude pulmonary edema susceptibility: A 2011 Update. Respiration. doi: 10.1159/000336625.
    • (2012) Respiration
    • Luo, Y.1    Zou, Y.2    Gao, Y.3
  • 26
    • 75849116319 scopus 로고    scopus 로고
    • Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau
    • Zhao M, Kong QP, Wang HW, Peng MS, Xie XD, et al. (2009) Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc Natl Acad Sci U S A 106: 21230-21235.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 21230-21235
    • Zhao, M.1    Kong, Q.P.2    Wang, H.W.3    Peng, M.S.4    Xie, X.D.5
  • 28
    • 0345491599 scopus 로고    scopus 로고
    • Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation
    • Hu CJ, Wang LY, Chodosh LA, Keith B, Simon MC, (2003) Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation. Mol Cell Biol 23: 9361-9374.
    • (2003) Mol Cell Biol , vol.23 , pp. 9361-9374
    • Hu, C.J.1    Wang, L.Y.2    Chodosh, L.A.3    Keith, B.4    Simon, M.C.5
  • 29
    • 0031919886 scopus 로고    scopus 로고
    • Polycythemic responses to hypoxia: molecular and genetic mechanisms of chronic mountain sickness
    • Ou LC, Salceda S, Schuster SJ, Dunnack LM, Brink-Johnsen T, et al. (1998) Polycythemic responses to hypoxia: molecular and genetic mechanisms of chronic mountain sickness. J Appl Physiol 84: 1242-1251.
    • (1998) J Appl Physiol , vol.84 , pp. 1242-1251
    • Ou, L.C.1    Salceda, S.2    Schuster, S.J.3    Dunnack, L.M.4    Brink-Johnsen, T.5
  • 30
    • 0015511171 scopus 로고
    • The Bohr effect and the red cell 2-3 DPG and Hb content in Sherpas and Europeans at low and at high altitude
    • Morpurgo G, Battaglia P, Carter ND, Modiano G, Passi S, (1972) The Bohr effect and the red cell 2-3 DPG and Hb content in Sherpas and Europeans at low and at high altitude. Experientia. 28: 1280-1283.
    • (1972) Experientia , vol.28 , pp. 1280-1283
    • Morpurgo, G.1    Battaglia, P.2    Carter, N.D.3    Modiano, G.4    Passi, S.5
  • 32
    • 70350212737 scopus 로고    scopus 로고
    • The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow
    • Jensen FB, (2009) The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow. J Exp Biol 212: 3387-3393.
    • (2009) J Exp Biol , vol.212 , pp. 3387-3393
    • Jensen, F.B.1
  • 33
    • 30744446239 scopus 로고    scopus 로고
    • The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes
    • Henderson J, Withford-Cave JM, Duffy DL, Cole SJ, Sawyer NA, et al. (2005) The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. Hum Genet 118: 416-423.
    • (2005) Hum Genet , vol.118 , pp. 416-423
    • Henderson, J.1    Withford-Cave, J.M.2    Duffy, D.L.3    Cole, S.J.4    Sawyer, N.A.5
  • 34
    • 0034682513 scopus 로고    scopus 로고
    • The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling
    • Peng J, Zhang L, Drysdale L, Fong GH, (2000) The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling. Proc Natl Acad Sci U S A 97: 8386-8391.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 8386-8391
    • Peng, J.1    Zhang, L.2    Drysdale, L.3    Fong, G.H.4
  • 35
    • 39749158529 scopus 로고    scopus 로고
    • Role of hypoxia-inducible factor-2alpha in endothelial development and hematopoiesis
    • Ohneda O, Nagano M, Fujii-Kuriyama Y, (2007) Role of hypoxia-inducible factor-2alpha in endothelial development and hematopoiesis. Methods Enzymol 435: 199-218.
    • (2007) Methods Enzymol , vol.435 , pp. 199-218
    • Ohneda, O.1    Nagano, M.2    Fujii-Kuriyama, Y.3
  • 36
    • 0031020884 scopus 로고    scopus 로고
    • Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells
    • Tian H, McKnight SL, Russell DW, (1997) Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev 11: 72-82.
    • (1997) Genes Dev , vol.11 , pp. 72-82
    • Tian, H.1    McKnight, S.L.2    Russell, D.W.3
  • 37
    • 18744366077 scopus 로고    scopus 로고
    • World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects
    • World Medical Association General Assembly
    • World Medical Association General Assembly (2004) World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. J Int Bioethique 15: 124-129.
    • (2004) J Int Bioethique , vol.15 , pp. 124-129
  • 38
    • 84870779588 scopus 로고    scopus 로고
    • International HapMap Project. Available: http://hapmap.ncbi.nlm.nih.gov/. Accessed 2012 Jun 25.
  • 39
    • 0021566877 scopus 로고
    • Estimating f-statistics for the analysis of population structure
    • Weir BS, Cockerham CC, (1984) Estimating f-statistics for the analysis of population structure. Evolution 38: 1358-1370.
    • (1984) Evolution , vol.38 , pp. 1358-1370
    • Weir, B.S.1    Cockerham, C.C.2
  • 40
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4


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