Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation

Molecular Biology and Evolution

Volumn 30, Issue 8, 2013, Pages 1889-1898

  Xiang, Kun ^a,b   Ouzhuluobu, ^c   Peng, Yi ^a   Yang, Zhaohui ^a,b   Zhang, Xiaoming ^a,b   Cui, Chaoying ^c   Zhang, Hui ^a   Li, Ming ^a,b   Zhang, Yanfeng ^a   Bianba, ^c   Gonggalanzi, ^c   Basang, ^d   Ciwangsangbu, ^d   Wu, Tianyi ^e   Chen, Hua ^f   Shi, Hong ^a   Qi, Xuebin ^a   Su, Bing ^a  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^c TIBET UNIVERSITY   (China)

^d People's Hospital of Dangxiong County   (China)

^e National Key Laboratory of High Altitude Medicine   (China)

^f HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

EGLN1; Hypoxic adaptation; Positive selection; Tibetans

Indexed keywords

HEMOGLOBIN; EGLN1 PROTEIN, HUMAN; HYPOXIA INDUCIBLE FACTOR PROLINE DIOXYGENASE;

AFRICA; ALTITUDE ACCLIMATIZATION; ALTITUDE DISEASE; ARTICLE; CHINESE; EGLN1 GENE; EUROPE; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HEMOGLOBIN BLOOD LEVEL; HUMAN; JAPANESE; MALE; NATURAL SELECTION; NEOLITHIC; NUCLEOTIDE SEQUENCE; ACCLIMATIZATION; ADULT; ALLELE; ALTITUDE; ANOXIA; ASIAN; CHINA; EGLN1; GENE LINKAGE DISEQUILIBRIUM; GENETIC SELECTION; GENETICS; HYPOXIC ADAPTATION; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; OXYGEN CONSUMPTION; PHENOTYPE; POSITIVE SELECTION; SINGLE NUCLEOTIDE POLYMORPHISM; TIBETANS; ASIAN CONTINENTAL ANCESTRY GROUP;

EGLN1; HYPOXIC ADAPTATION; POSITIVE SELECTION; TIBETANS;

ACCLIMATIZATION; ADULT; ALLELES; ALTITUDE; ANOXIA; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HEMOGLOBINS; HUMANS; HYPOXIA-INDUCIBLE FACTOR-PROLINE DIOXYGENASES; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OXYGEN CONSUMPTION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SELECTION, GENETIC; TIBET;

EID: 84894366072     PISSN: 07374038     EISSN: 15371719     Source Type: Journal    
DOI: 10.1093/molbev/mst090     Document Type: Article

References (27)

1. Akey JM, Zhang G, Zhang K, Jin L, Shriver MD. 2002. Interrogating a high-density SNP map for signatures of natural selection. Genome Res. 12:1805-1814.
2. Bandelt HJ, Forster P, Rohl A. 1999. Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol. 16:37-48
3. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
4. Beall CM. 2007. Two routes to functional adaptation: Tibetan and Andean high-altitude natives. Proc Natl Acad Sci USA 104 8655-8660.
5. Beall CM, Cavalleri GL, Deng L, et al. (29 co-authors). 2010. Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci USA. 107: 11459-11464
6. Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. 2004 Genetic signatures of strong recent positive selection at the lactase gene. AmJ Hum Genet 74:1111-1120.
7. Bigham A Bauchet M, Pinto D, et al. (14 co-authors). 2010. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet 6:e1001116
8. Dupuy D, Aubert I, Duperat VG, Petit J, Taine L, Stef M, Bloch B, Arveiler B. 2000. Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2. Genomics 69:348-354
9. Fay JC, Wu CI. 2000. Hitchhiking under positive Darwinian selection. Genetics 155:1405-1413
10. Fried W. 1995. Erythropoietin. Annu Rev Nutr. 15:353-377.
11. Jaakkola P, Mole DR Tian YM, et al. (13 co-authors). 2001. Targeting of HIF-α to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation. Science 292:468-472
12. Leon-Velarde F, Rivera-Chira M, Tapia R Huicho L, Monge CC. 2001. Relationship of ovarian hormones to hypoxemia in women residents of 4,300 m. Am J Physiol Regul Integr Comp Physiol. 280: R488-R493
13. Librado P, Rozas J. 2009. DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics 25:1451-1452
14. McDonough MA, Li V, Flashman E, et al. (17 co-authors). 2006. Cellular oxygen sensing: crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). Proc Natl Acad Sci USA. 103:9814-9819
15. Meredith RW, Janecka JE Gatesy J, et al. (22 co-authors). 2011. Impacts of the Cretaceous Terrestrial Revolution and KPg extinction on mammal diversification. Science 334:521-524
16. 1000 Genomes Project Consortium. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65.
17. Peng Y, Yang Z, Zhang H, et al. (15 co-authors). 2011. Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol Biol Evol. 28:1075-1081.
18. Purcell S, Neale B, Todd-Brown K, et al. (11 co-authors). 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
19. Shi H, Zhong H, Peng Y, et al. (13 co-authors). 2008. Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations. BMC Biol. 6:45
20. Simonson TS, Yang Y, Huff CD, et al. (12 co-authors). 2010. Genetic evidence for high-altitude adaptation in Tibet. Science 329:72-75
21. Tishkoff SA Reed FA Ranciaro A, et al. (19 co-authors). 2007 Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet. 39:31-40.
22. Tishkoff SA Varkonyi R Cahinhinan N, et al. (17 co-authors). 2001. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 293: 455-462
23. Voight BF, Kudaravalli S, Wen X, Pritchard JK. 2006. A map of recent positive selection in the human genome. PLoS Biol. 4:e72
24. Wang B, Zhang YB, Zhang F, et al. (18 co-authors). 2011. On the origin of Tibetans and their genetic basis in adapting high-altitude environments. PLoS One 6:e17002
25. Wu T, Kayser B. 2006. High altitude adaptation in Tibetans. High Alt Med Biol. 7:193-208
26. XuS, Li S, Yang Y, et al. (13 co-authors). 2011. A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol Biol Evol. 28: 1003-1011.
27. Yi X, Liang Y, Huerta-Sanchez E et al. (67 co-authors). 2010. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329:75-78