A genetic mechanism for Tibetan high-altitude adaptation

Nature Genetics - Tập 46 Số 9 - Trang 951-956 - 2014
Felipe R. Lorenzo1, Chad Huff2, Mikko Myllymäki3, Benjamin A. Olenchock4, Sabina Świerczek1, Tsewang Tashi1, Victor R. Gordeuk5, Tana Wuren6, Ri‐Li Ge6, Donald A. McClain1, Tahsin M. Khan7, Parvaiz A Koul8, Prasenjit Guchhait9, Mohamed E. Salama10, Jinchuan Xing11, Gregg L. Semenza12, Ella Liberzon13, Andrew Wilson14, Tatum S. Simonson15, Lynn B. Jorde2, William G. Kaelin13, Peppi Koivunen3, Josef T. Prchal2
1Department of Medicine, University of Utah School of Medicine and George E. Wahlin Veterans Administration Medical Center, Salt Lake City, Utah, USA
2Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA
3Biocenter Oulu, Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell-Matrix Research, University of Oulu, Oulu, Finland
4Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA
5Sickle Cell Center, University of Illinois, Chicago, Illinois, USA
6Research Center for High-Altitude Medicine, Qinghai University, Xining, People's Republic of China
7Icahn School of Medicine at Mount Sinai, New York, New York, USA
8Sher-I-Kashmir Institute of Medical Sciences, Srinagar, India
9Regional Centre for Biotechnology, Gurgaon, India
10Department of Pathology, University of Utah, Salt Lake City, Utah USA
11Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey, USA
12Vascular Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
13Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA
14Departmant of Family and Preventive Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA
15Division of Physiology, University of California San Diego School of Medicine, La Jolla, California, USA

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Tài liệu tham khảo

Beall, C.M. Two routes to functional adaptation: Tibetan and Andean high-altitude natives. Proc. Natl. Acad. Sci. USA 104 (suppl. 1), 8655–8660 (2007).

Prchal, J.T. Production of Erythrocytes (McGraw Hill, New York, 2010).

Prchal, J.T. in Secondary Polycythemia (Erythrocytosis) 823–839 (McGraw Hill, New York, 2010).

Simonson, T.S. et al. Genetic evidence for high-altitude adaptation in Tibet. Science 329, 72–75 (2010).

Beall, C.M. et al. Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders. Proc. Natl. Acad. Sci. USA 107, 11459–11464 (2010).

Yi, X. et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329, 75–78 (2010).

Lorenzo, F.R. et al. Novel PHD2 mutation associated with Tibetan genetic adaptation to high altitude hypoxia. ASH 52nd Annual Meeting (ASH, Orlando, FL, 2010).

Tian, H., McKnight, S.L. & Russell, D.W. Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev. 11, 72–82 (1997).

Wang, G.L. & Semenza, G.L. Characterization of hypoxia-inducible factor 1 and regulation of DNA binding activity by hypoxia. J. Biol. Chem. 268, 21513–21518 (1993).

Prabhakar, N.R. & Semenza, G.L. Adaptive and maladaptive cardiorespiratory responses to continuous and intermittent hypoxia mediated by hypoxia-inducible factors 1 and 2. Physiol. Rev. 92, 967–1003 (2012).

Wang, G.L. & Semenza, G.L. General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia. Proc. Natl. Acad. Sci. USA 90, 4304–4308 (1993).

Kapitsinou, P.P. et al. Hepatic HIF-2 regulates erythropoietic responses to hypoxia in renal anemia. Blood 116, 3039–3048 (2010).

Yoon, D., Ponka, P. & Prchal, J.T. Hypoxia. 5. Hypoxia and hematopoiesis. Am. J. Physiol. Cell Physiol. 300, C1215–C1222 (2011).

Yoon, D. et al. Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development. J. Biol. Chem. 281, 25703–25711 (2006).

Pineda Torra, I., Jamshidi, Y., Flavell, D.M., Fruchart, J.C. & Staels, B. Characterization of the human PPARα promoter: identification of a functional nuclear receptor response element. Mol. Endocrinol. 16, 1013–1028 (2002).

Xing, J. et al. Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians. PLoS Genet. 9, e1003634 (2013).

Huff, C.D. et al. Crohn's disease and genetic hitchhiking at IBD5. Mol. Biol. Evol. 29, 101–111 (2012).

Hirsilä, M., Koivunen, P., Gunzler, V., Kivirikko, K.I. & Myllyharju, J. Characterization of the human prolyl 4-hydroxylases that modify the hypoxia-inducible factor. J. Biol. Chem. 278, 30772–30780 (2003).

Ang, S.O. et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat. Genet. 32, 614–621 (2002).

Loeffler, M., Herkenrath, P., Wichmann, H.E., Lord, B.I. & Murphy, M.J. Jr. The kinetics of hematopoietic stem cells during and after hypoxia. A model analysis. Blut 49, 427–439 (1984).

Cipolleschi, M.G. et al. Severe hypoxia enhances the formation of erythroid bursts from human cord blood cells and the maintenance of BFU-E in vitro. Exp. Hematol. 25, 1187–1194 (1997).

Drmanac, R. et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327, 78–81 (2010).

Bigham, A.W. et al. Identifying positive selection candidate loci for high-altitude adaptation in Andean populations. Hum. Genomics 4, 79–90 (2009).

Albiero, E. et al. Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. Haematologica 97, 123–127 (2012).

Albiero, E. et al. Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation. Br. J. Haematol. 153, 405–408 (2011).

Ladroue, C. et al. Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica 97, 9–14 (2012).

Percy, M.J. et al. Two new mutations in the HIF2A gene associated with erythrocytosis. Am. J. Hematol. 87, 439–442 (2012).

Percy, M.J. et al. A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc. Natl. Acad. Sci. USA 103, 654–659 (2006).

Aggarwal, S. et al. EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proc. Natl. Acad. Sci. USA 107, 18961–18966 (2010).

Ang, S.O. et al. Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol. Dis. 28, 57–62 (2002).

Percy, M.J. et al. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. Blood 110, 2193–2196 (2007).

Percy, M.J. Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. Ulster Med. J. 77, 86–88 (2008).

Simonson, T.S., McClain, D.A., Jorde, L.B. & Prchal, J.T. Genetic determinants of Tibetan high-altitude adaptation. Hum. Genet. 131, 527–533 (2012).

Ge, R.L. et al. Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol. Genet. Metab. 106, 244–247 (2012).

Xing, J. et al. Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics 96, 199–210 (2010).

Xing, J. et al. Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res. 19, 815–825 (2009).

Huff, C.D. et al. Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res. 21, 768–774 (2011).

Browning, S.R. & Browning, B.L. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81, 1084–1097 (2007).

Goldstein, D.B. & Schlotterer, C. in Microsatellites: Evolution and Applications; Estimating the Age of Mutations Using Variation at Linked Markers 368 (Oxford University Press, Oxford, 1999).

Hirsilä, M. et al. Effect of desferrioxamine and metals on the hydroxylases in the oxygen sensing pathway. FASEB J. 19, 1308–1310 (2005).

Koivunen, P., Hirsila, M., Kivirikko, K.I. & Myllyharju, J. The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases. J. Biol. Chem. 281, 28712–28720 (2006).

Swierczek, S.I. et al. Methylation of AR locus does not always reflect X chromosome inactivation state. Blood 119, e100–e109 (2012).

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Nature Genetics

Tập 46 Số 9

951-956

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