Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal
作者： Choongwon Jeong , David B. Witonsky , Buddha Basnyat , Maniraj Neupane , Cynthia M. Beall
DOI: 10.1101/223081
关键词:
摘要: Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined approaches detecting sweeps polygenic adaptations mapping the genetic bases physiological fertility phenotypes approximately 1000 indigenous ethnically Tibetan women from Nepal, adapted to high altitude. performed genome-wide association analysis tests which showed evidence positive selection associated with more pregnancies live births negative those higher offspring mortality. Lower hemoglobin level did not show clear adaptation, despite strong an EPAS1 haplotype carrying sweep signals.
sci-hub.st 参考文章(89)
Urko M. Marigorta, Arcadi Navarro, High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants PLoS Genetics. ,vol. 9, pp. e1003566- ,(2013) , 10.1371/JOURNAL.PGEN.1003566
Joseph K Pickrell, Graham Coop, John Novembre, Sridhar Kudaravalli, Jun Z Li, Devin Absher, Balaji S Srinivasan, Gregory S Barsh, Richard M Myers, Marcus W Feldman, Jonathan K Pritchard, Signals of recent positive selection in a worldwide sample of human populations Genome Research. ,vol. 19, pp. 826- 837 ,(2009) , 10.1101/GR.087577.108
James J Lee, Shaun M Purcell, Shashaank Vattikuti, Laurent CAM Tellier, Carson C Chow, Christopher C Chang, None, Second-generation PLINK: rising to the challenge of larger and richer datasets GigaScience. ,vol. 4, pp. 7- 7 ,(2015) , 10.1186/S13742-015-0047-8
Felipe R Lorenzo, Chad Huff, Mikko Myllymäki, Benjamin Olenchock, Sabina Swierczek, Tsewang Tashi, Victor Gordeuk, Tana Wuren, Ge Ri-Li, Donald A McClain, Tahsin M Khan, Parvaiz A Koul, Prasenjit Guchhait, Mohamed E Salama, Jinchuan Xing, Gregg L Semenza, Ella Liberzon, Andrew Wilson, Tatum S Simonson, Lynn B Jorde, William G Kaelin Jr, Peppi Koivunen, Josef T Prchal, None, A genetic mechanism for Tibetan high-altitude adaptation Nature Genetics. ,vol. 46, pp. 951- 956 ,(2014) , 10.1038/NG.3067
C. M. Beall, M. J. Decker, G. M. Brittenham, I. Kushner, A. Gebremedhin, K. P. Strohl, An Ethiopian pattern of human adaptation to high-altitude hypoxia Proceedings of the National Academy of Sciences of the United States of America. ,vol. 99, pp. 17215- 17218 ,(2002) , 10.1073/PNAS.252649199
H. Li, R. Durbin, Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics. ,vol. 25, pp. 1754- 1760 ,(2009) , 10.1093/BIOINFORMATICS/BTP324
, A global reference for human genetic variation. Nature. ,vol. 526, pp. 68- 74 ,(2015) , 10.1038/NATURE15393
Wenqing Fu, Joshua M. Akey, Selection and Adaptation in the Human Genome Annual Review of Genomics and Human Genetics. ,vol. 14, pp. 467- 489 ,(2013) , 10.1146/ANNUREV-GENOM-091212-153509
Michael C Turchin, , Charleston WK Chiang, Cameron D Palmer, Sriram Sankararaman, David Reich, Joel N Hirschhorn, Evidence of widespread selection on standing variation in Europe at height-associated SNPs Nature Genetics. ,vol. 44, pp. 1015- 1019 ,(2012) , 10.1038/NG.2368
Goo Jun, Mary Kate Wing, Gonçalo R. Abecasis, Hyun Min Kang, An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data Genome Research. ,vol. 25, pp. 918- 925 ,(2015) , 10.1101/GR.176552.114