Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
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No Genetic Vertigo: Peoples living in high altitudes have adapted to their situation (see the Perspective by Storz ). To identify gene regions that might have contributed to high-altitude adaptation in Tibetans, Simonson et al. (p. 72 , published online 13 May) conducted a genome scan of nucleotide polymorphism comparing Tibetans, Han Chinese, and Japanese, while Yi et al. (p. 75 ) performed comparable analyses on the coding regions of all genes—their exomes. Both studies converged on a gene, endothelial Per-Arnt-Sim domain protein 1 (also known as hypoxia-inducible factor 2 α), which has been linked to the regulation of red blood cell production. Other genes identified that were potentially under selection included adult and fetal hemoglobin and two functional candidate loci that were correlated with low hemoglobin concentration in Tibetans. Future detailed functional studies will now be required to examine the mechanistic underpinnings of physiological adaptation to high altitudes.
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A signal of positive natural selection was detected in EPAS1, a transcription factor involved in the response to hypoxia, which most probably helps Tibetans to live at high altitudes.
“For example, by studying genes that show population-specific allele-frequency differences between Tibetans and Han Chinese, a signal of positive natural selection was detected in EPAS1, a transcription factor involved in the response to hypoxia, which most probably helps the Tibetans to live at high altitudes [40].”
From Ancient DNA and the rewriting of human history: be sparing with Occam’s razor (2016) · cites this paper as [40]
Genetic variations in HIF2A, PHD2 and PPARA associate with lower hemoglobins in native Tibetans compared to Han Chinese and with high altitude adaptation in other populations.
“Genome-wide searches for single-nucleotide polymorphisms (SNP), candidate gene approaches and exome sequencing have identified genetic variations in the HIF2A, PHD2 and PPARA genes that associate with lower hemoglobins in native Tibetans compared to Han Chinese and with high altitude adaptation in other populations.”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [173]
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“The studies by Beall et al. (Beall et al., 2010) and Yi et al. (Yi et al., 2010) revealed a striking signal of positive selection at EPAS1, and documented that noncoding nucleotide variants in and around the EPAS1 gene are strongly associated with a reduced Hb concentration in Tibetan highlanders.”
BackgroundPopulation genomics reveal recent speciation and rapid evolutionary adaptation in polar bears
Liu, S., Lorenzen, E. D., Fumagalli, M., Li, B., Harris, K., Xiong, Z., Zhou, L., Korneliussen, T. S., Somel, M., Babbitt, C., et al. (2014) · Cell · doi:10.1016/j.cell.2014.03.054 · Cited by 411 · see citing works
Self-citationDetection of human adaptation during the past 2000 years
Field, Y., Boyle, E. A., Telis, N., Gao, Z., Gaulton, K. J., Golan, D., Yengo, L., Rocheleau, G., Froguel, P., McCarthy, M. I., et al. (2016) · Science · doi:10.1126/science.aag0776 · Cited by 383 · see citing works
“An alternative widely-used approach is to test for differences in allele frequencies between extant populations [6,21,22].”
Burri, R., Nater, A., Kawakami, T., Mugal, C. F., Olason, P. I., Smeds, L., Suh, A., Dutoit, L., Bureš, S., Garamszegi, L. Z., et al. (2015) · Genome Research · doi:10.1101/gr.196485.115 · Cited by 398 · see citing works
Polygenic adaptation: a unifying framework to understand positive selection
Barghi, N., Hermisson, J., & Schlötterer, C. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0250-z · Cited by 404 · see citing works
Genetic Variations in Tibetan Populations and High-Altitude Adaptation at the Himalayas
Peng, Y., Yang, Z., Zhang, H., Cui, C., Qi, X., Luo, X., Tao, X., Wu, T., Ouzhuluobu, Basang, et al. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msq290 · Cited by 388 · see citing works
“And the signature of positive selection on EPAS1 and EGLN1 were further supported by the results of different analytical methods in detecting selection (Beall et al. 2010; Yi et al. 2010).”
BackgroundResultInfluentialA Major Genome Region Underlying Artemisinin Resistance in Malaria
Cheeseman, I. H., Miller, B. A., Nair, S., Nkhoma, S. C., Tan, A., Tan, J. C., Saai, S. A., Phyo, A. P., Moo, C. L., Lwin, K. M., et al. (2012) · Science · doi:10.1126/science.1215966 · Cited by 379 · see citing works
Overexpression of the Cytokine BAFF and Autoimmunity Risk
Steri, M., Orrù, V., Idda, M. L., Pitzalis, M., Pala, M., Zara, I., Sidore, C., Faà, V., Floris, M., Deiana, M., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1610528 · Cited by 382 · see citing works
Unlocking the vault: next‐generation museum population genomics
Bi, K., Linderoth, T. P., Vanderpool, D., Good, J. M., Nielsen, R., & Moritz, C. C. (2013) · Molecular Ecology · doi:10.1111/mec.12516 · Cited by 380 · see citing works
“…adequate to naively call genotypes for each individual with high confidence by counting alleles, we used a SNP calling and allele frequency estimation method based on genotype likelihoods that uses information from all individuals at all sites simultaneously (Yi et al. 2010; Nielsen et al. 2012).”
BackgroundMethodSelf-citationOn Detecting Incomplete Soft or Hard Selective Sweeps Using Haplotype Structure
Ferrer-Admetlla, A., Liang, M., Korneliussen, T. S., & Nielsen, R. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu077 · Cited by 362 · see citing works
“2002) and altitude adaptation (Simonson et al. 2010; Yi et al. 2010; Peng et al. 2011; Xu et al. 2011), strong selection in humans, particularly local selection, seems to be dominated by selection in response to pathogens (Pennings and Hermisson 2006a; Cagliani et al.”
BackgroundSelf-citationFast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Galinsky, K. J., Bhatia, G., Loh, P., Georgiev, S., Mukherjee, S., Patterson, N. J., & Price, A. L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.022 · Cited by 357 · see citing works
Identifying Recent Adaptations in Large-Scale Genomic Data
Grossman, S. R., Andersen, K. G., Shlyakhter, I., Tabrizi, S., Winnicki, S., Yen, A., Park, D. J., Griesemer, D., Karlsson, E. K., Wong, S. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.035 · Cited by 368 · see citing works
“, 2005), and high-altitude tolerance in EPAS1 (Yi et al., 2010).”
BackgroundHigh-depth African genomes inform human migration and health
Choudhury, A., Aron, S., Botigué, L. R., Sengupta, D., Botha, G., Bensellak, T., Wells, G., Kumuthini, J., Shriner, D., Fakim, Y. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2859-7 · Cited by 355 · see citing works
“For the PBS analysis, we used WGR as the representative west African population, CAM as the representative central-west African population and BOT as the representative south African population.”
InfluentialZhao, S., Zheng, P., Dong, S., Zhan, X., Wu, Q., Guo, X., Hu, Y., He, W., Zhang, S., Fan, W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2494 · Cited by 349 · see citing works
Self-citationTargeted capture in evolutionary and ecological genomics
Jones, M. R., & Good, J. M. (2015) · Molecular Ecology · doi:10.1111/mec.13304 · Cited by 350 · see citing works
“The potential power of capture-based population genomic studies is exemplified by Yi et al. (2010) who used whole exome capture to investigate the genetic basis of high-altitude adaptation in Tibetans.”
InfluentialHuman high-altitude adaptation: forward genetics meets the HIF pathwayPreprint
Bigham, A. W., & Lee, F. S. (2014) · Genes & Development · doi:10.1101/gad.250167.114 · Cited by 350 · see citing works
“…altitude and genetic analyses Several studies have used genomic scans for positive selection among Tibetan highlanders to identify natural selection candidate loci (Beall et al. 2010; Bigham et al. 2010; Simonson et al. 2010; Yi et al. 2010; Peng et al. 2011a; Wang et al. 2011; Xu et al. 2011).”
BackgroundInfluentialFariello, M. I., Boitard, S., Naya, H., SanCristobal, M., & Servin, B. (2013) · Genetics · doi:10.1534/genetics.112.147231 · Cited by 343 · see citing works
“In contrast to methods based on the frequency spectrum (i) or the excess of long haplotypes (ii), they can detect a wider range of selection scenarios, including selection on standing variation or incomplete sweeps, albeit up to a given extent (Innan and Kim 2008; Yi et al. 2010).”
MethodThe western diet and lifestyle and diseases of civilization
Carrera-Bastos, P., Fontes, O'Keefe, Lindeberg, & Cordain (2011) · Research Reports in Clinical Cardiology · doi:10.2147/rrcc.s16919 · Cited by 342 · see citing works
A high-coverage Neandertal genome from Chagyrskaya Cave
Mafessoni, F., Grote, S., de Filippo, C., Slon, V., Kolobova, K. A., Viola, B., Markin, S. V., Chintalapati, M., Peyrégne, S., Skov, L., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2004944117 · Cited by 309 · see citing works
Advances and limits of using population genetics to understand local adaptation
Tiffin, P., & Ross‐Ibarra, J. (2014) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2014.10.004 · Cited by 331 · see citing works
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series
Fages, A., Hanghøj, K., Khan, N., Gaunitz, C., Seguin‐Orlando, A., Leonardi, M., Constantz, C. M., Gamba, C., Al‐Rasheid, K. A. S., Albizuri, S., et al. (2019) · Cell · doi:10.1016/j.cell.2019.03.049 · Cited by 328 · see citing works
Self-citationEvidence of widespread selection on standing variation in Europe at height-associated SNPs
Turchin, M. C., Chiang, C. W., Palmer, C. D., Sankararaman, S., Reich, D., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, & Hirschhorn, J. N. (2012) · Nature Genetics · doi:10.1038/ng.2368 · Cited by 329 · see citing works
Climate and Urbanization Drive Mosquito Preference for Humans
Rose, N. H., Sylla, M., Badolo, A., Lutomiah, J., Ayala, D., Aribodor, O. B., Ibe, N., Akorli, J., Otoo, S., Mutebi, J.-P., et al. (2020) · Current Biology · doi:10.1016/j.cub.2020.06.092 · Cited by 319 · see citing works
An oxygen-regulated switch in the protein synthesis machinery
Uniacke, J., Holterman, C. E., Lachance, G., Franovic, A., Jacob, M. D., Fabian, M. R., Payette, J., Holcik, M., Pause, A., & Lee, S. (2012) · Nature · doi:10.1038/nature11055 · Cited by 319 · see citing works
West, J. B. (2012) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201207-1323ci · Cited by 313 · see citing works
“Yi and colleagues (21) took another approach and limited their analysis to 50 exomes of Tibetans (i.”
BackgroundVarshney, R. K., Thudi, M., Roorkiwal, M., He, W., Upadhyaya, H. D., Yang, W. C., Bajaj, P., Cubry, P., Rathore, A., Jian, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0401-3 · Cited by 313 · see citing works
Self-citationRNA sequencing reveals the complex regulatory network in the maize kernel
Fu, J., Cheng, Y., Linghu, J., Yang, X., Kang, L., Zhang, Z., Zhang, J., He, C., Du, X., Peng, Z., et al. (2013) · Nature Communications · doi:10.1038/ncomms3832 · Cited by 298 · see citing works
Self-citationExome sequencing: the sweet spot before whole genomes
Teer, J. K., & Mullikin, J. C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq333 · Cited by 303 · see citing works
“Researchers used whole exome capture to identify changes in allele frequency between high-altitude populations (Tibetans) and low altitude populations (Han Chinese and Danes) (38).”
MethodA Genome-Wide Search for Signals of High-Altitude Adaptation in Tibetans
Xu, S., Li, S., Yang, Y., Tan, J., Lou, H., Jin, W., Yang, L., Pan, X., Wang, J., Shen, Y., et al. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msq277 · Cited by 331 · see citing works
“S.X. was supported by the National Science Foundation of China (30971577) and the Science and Technology Commission of Shanghai Municipality (09ZR1436400).”
BackgroundInfluentialSelf-citationAdmixture into and within sub-Saharan Africa
Busby, G., Band, G., Le, S. Q., Jallow, M., Bougama, E., Mangano, V. D., Amenga-Etego, L. N.-K., Enimil, A. K., Apinjoh, T. O., Ndila, C., et al. (2016) · eLife · doi:10.7554/elife.15266 · Cited by 288 · see citing works
“, 2013); EPAS1 and EGLN1 in Tibetans (Yi et al., 2010); and at a separate loci within EGLN1 in Andean groups (Bigham et al.”
BackgroundThe genetics of monarch butterfly migration and warning colouration
Zhan, S., Zhang, W., Niitepõld, K., Hsu, J. L., Haeger, J. F., Zalucki, M. P., Altizer, S., de Roode, J. C., Reppert, S. M., & Kronforst, M. R. (2014) · Nature · doi:10.1038/nature13812 · Cited by 288 · see citing works
Genome-culture coevolution promotes rapid divergence of killer whale ecotypes
Foote, A. D., Vijay, N., Ávila‐Arcos, M. C., Baird, R. W., Durban, J. W., Fumagalli, M., Gibbs, R. A., Hanson, M. B., Korneliussen, T. S., Martin, M. D., et al. (2016) · Nature Communications · doi:10.1038/ncomms11693 · Cited by 288 · see citing works
Self-citationHIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond
Maxwell, P. H., & Eckardt, K. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.193 · Cited by 286 · see citing works
PHENOTYPIC PLASTICITY AND EPIGENETIC MARKING: AN ASSESSMENT OF EVIDENCE FOR GENETIC ACCOMMODATION
Schlichting, C. D., & Wund, M. A. (2014) · Evolution · doi:10.1111/evo.12348 · Cited by 284 · see citing works
“Variants of EGLN1, which degrades HIF under normal conditions, are under positive selection in both Tibetan and Andean samples, whereas Tibetan EPAS1 is under very strong selection (Bigham et al. 2010; Yi et al. 2010; Xiang et al. 2013).”
BackgroundKorneliussen, T. S., Moltke, I., Albrechtsen, A., & Nielsen, R. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-289 · Cited by 278 · see citing works
“Pr(D | x = j) can be calculated fast using a dynamic programming algorithm described in detail in references [33,35], and we refer readers to these publications for details.”
MethodSelf-citationDraft genome sequence of the Tibetan antelope
Ge, R.-L., Cai, Q., Shen, Y., San, A., Ma, L., Zhang, Y., Yi, X., Chen, Y., Yang, L., Huang, Y., et al. (2013) · Nature Communications · doi:10.1038/ncomms2860 · Cited by 279 · see citing works
Self-citationAdaptive introgression enables evolutionary rescue from extreme environmental pollution
Oziolor, E. M., Reid, N. M., Yair, S., Lee, K. M., VerPloeg, S. L. G., Bruns, P. C., Shaw, J. R., Whitehead, A., & Matson, C. W. (2019) · Science · doi:10.1126/science.aav4155 · Cited by 275 · see citing works
Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America
Patin, É., Lopez, M., Grollemund, R., Verdu, P., Harmant, C., Quach, H., Laval, G., Perry, G. H., Barreiro, L. B., Froment, A., et al. (2017) · Science · doi:10.1126/science.aal1988 · Cited by 270 · see citing works
Ancestral Origins and Genetic History of Tibetan Highlanders
Lu, D., Lou, H., Yuan, K., Wang, X., Wang, Y., Zhang, C., Lü, Y., Yang, X. W., Deng, L., Zhou, Y., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.002 · Cited by 272 · see citing works
“A recent genetic study utilizing exome sequencing data estimated a divergence time of 2,750 years between Tibetans and Han Chinese.(4) Existing archaeological and genetic data are not sufficient to address the discrepancy between times estimated by different studies.”
BackgroundMethodResultInfluentialSelf-citationChen, C.-H., Yang, J.-H., Chiang, C. W. K., Hsiung, C., Wu, P., Chang, L.-C., Chu, H., Chang, J., Song, I.-W., Yang, S.-L., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw346 · Cited by 272 · see citing works
“Although the effect is likely not nearly as strong, this is reminiscent of the high-altitude adaptation in Han and Tibetan Chinese (32).”
BackgroundSelf-citationDistance from sub-Saharan Africa predicts mutational load in diverse human genomes
Henn, B. M., Botigué, L. R., Peischl, S., Dupanloup, I., Lipatov, M., Maples, B. K., Martin, A. R., Musharoff, S. A., Cann, H. M., Snyder, M. P., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1510805112 · Cited by 257 · see citing works
“Others have emphasized evidence for pervasive adaptive selection(53, 54) and a variety of studies have identified specific beneficial alleles locally adapted to high altitude, immune response and pigmentation(55-57).”
BackgroundRossier, B. C., Baker, M. E., & Studer, R. A. (2015) · Physiological Reviews · doi:10.1152/physrev.00011.2014 · Cited by 269 · see citing works
“Another case is that of a gene, EPAS1 or HIF2 (coding for a transcription factor involved in hemoglobin concentration), conferring resistance to hypoxia to populations living at high elevation (Tibetan, Andean) (22, 350).”
BackgroundBi, K., Vanderpool, D., Singhal, S., Linderoth, T. P., Moritz, C. C., & Good, J. M. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-403 · Cited by 260 · see citing works
“Since genotype calling is not a focus of the present paper, we did not perform quality score recalibration but related information can be found in [4] and [23].”
BackgroundGünther, T., Malmström, H., Svensson, E., Omrak, A., Sánchez‐Quinto, F., Kılınç, G. M., Krzewińska, M., Eriksson, G., Fraser, M., Edlund, H., et al. (2018) · PLoS Biology · doi:10.1371/journal.pbio.2003703 · Cited by 247 · see citing works
Hypoxia-induced signaling in the cardiovascular system: pathogenesis and therapeutic targets
Zhao, Y., Xiong, W., Li, C., Zhao, R., Lu, H., Song, S., Zhou, Y., Hu, Y., Shi, B., & Ge, J. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01652-9 · Cited by 264 · see citing works
Qi, X., Cui, C., Peng, Y., Zhang, X., Yang, Z., Zhong, H., Zhang, H., Xiang, K., Cao, X., Wang, Y., et al. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst093 · Cited by 253 · see citing works
Self-citationHumans at high altitude: Hypoxia and fetal growth
Moore, L. G., Charles, S. M., & Julian, C. G. (2011) · Respiratory Physiology & Neurobiology · doi:10.1016/j.resp.2011.04.017 · Cited by 251 · see citing works
“…scan of Tibetans with lowland Han: EPAS1 Endothelial PAS domain protein 1; also called ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73 2p21-p16 (Yi et al., 2010) Sequencing 50 exomes in Tibetans, encompassing 92% of coding genes: EPAS1 Endothelial PAS domain protein 1; also called ECYT4,…”
BackgroundGenetic signatures of high-altitude adaptation in Tibetans
Yang, J., Jin, Z., Chen, J., Huang, X., Li, X., Liang, Y., Mao, J.-Y., Chen, X., Zheng, Z., Bakshi, A., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1617042114 · Cited by 250 · see citing works
“In our study, we found that the signal of selection at the PPARA was not genome-wide significant (PMLMA-LOCO = 9.1 × 10 −5 at the top SNP rs149670586) and did not find any evidence that rs149670586 is associated with HGB (PGWAS = 0.20).”
BackgroundMethodResultInfluentialSelf-citationErythropoietinPreprint
Bunn, H. F. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a011619 · Cited by 247 · see citing works
“The lead compounds that are currently undergoing clinical trials appear to inhibit HIF-2a specifically.”
BackgroundInfluentialWIT, P. J. G. M. D., Pespeni, M. H., Ladner, J. T., Barshis, D. J., Seneca, F., Jaris, H., Therkildsen, N. O., Morikawa, M. K., & Palumbi, S. R. (2012) · Molecular Ecology Resources · doi:10.1111/1755-0998.12003 · Cited by 243 · see citing works
“…reasonable cost and are currently revolutionizing our view of many important biological concepts, such as natural selection (Pickrell et al. 2009; Yi et al. 2010; Pespeni et al. 2011), gene flow (Tishkoff et al. 2009; Neafsey et al. 2010) and gene expression patterns (Wolf et al. 2010; Renaut &…”
BackgroundLarge-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Wu, D., Dou, J., Chai, X., Bellis, C., Wilm, A., Shih, C. C., Soon, W. W., Bertin, N., Lin, C. B., Khor, C. C., et al. (2019) · Cell · doi:10.1016/j.cell.2019.09.019 · Cited by 240 · see citing works
Self-citationInfant and child death in the human environment of evolutionary adaptation
Volk, A. A., & Atkinson, J. (2013) · Evolution and Human Behavior · doi:10.1016/j.evolhumbehav.2012.11.007 · Cited by 238 · see citing works
“However, it is important to note that recent theories suggest that the last 10,000 years have played a significant role as a source of evolutionary adaptations and are hence part of the human EEA (Cochran & Harpending, 2009; Hartl & Clark, 1997; Irons, 1998; Yi et al., 2010; Tishkoff et al., 2007).”
BackgroundZhang, J., Jima, D. D., Moffitt, A. B., Liu, Q., Czader, M., Hsi, E. D., Fedoriw, Y. D., Dunphy, C. H., Richards, K. L., Gill, J., et al. (2014) · Blood · doi:10.1182/blood-2013-07-517177 · Cited by 237 · see citing works
Admixture facilitates genetic adaptations to high altitude in Tibet
Jeong, C., Alkorta‐Aranburu, G., Basnyat, B., Neupane, M., Witonsky, D., Pritchard, J. K., Beall, C. M., & Rienzo, A. D. (2014) · Nature Communications · doi:10.1038/ncomms4281 · Cited by 237 · see citing works
Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism
Jain, I. H., Calvo, S. E., Markhard, A. L., Skinner, O. S., To, T.-L., Ast, T., & Mootha, V. K. (2020) · Cell · doi:10.1016/j.cell.2020.03.029 · Cited by 224 · see citing works
“These studies have identified polymorphisms in the canonical vHL-PHD-HIF O2 sensing pathways (Beall et al., 2010; Peng et al., 2011; Simonson et al., 2010; Xu et al., 2011; Yang et al., 2017; Yi et al., 2010), representing the most rapid known example of recent natural selection.”
Ancient genomic changes associated with domestication of the horse
Librado, P., Gamba, C., Gaunitz, C., Sarkissian, C. S. I. D., Pruvost, M., Albrechtsen, A., Fages, A., Khan, N., Schubert, M., Jagannathan, V., et al. (2017) · Science · doi:10.1126/science.aam5298 · Cited by 222 · see citing works
Genetic Signatures Reveal High-Altitude Adaptation in a Set of Ethiopian Populations
Huerta‐Sánchez, E., DeGiorgio, M., Pagani, L., Tarekegn, A., Ekong, R., Antão, T., Cardona, A., Montgomery, H., Cavalleri, G. L., Robbins, P. A., et al. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst089 · Cited by 217 · see citing works
“…genes within the HIF hypoxia-sensing pathway exhibiting strong signatures of positive selection in response to high altitude have been identified (e.g., EPAS1 and EGLN1; Beall et al. 2010; Bigham et al. 2010; Simonson et al. 2010; Yi et al. 2010; Peng et al. 2011; Wang et al. 2011; Xu et al. 2011).”
BackgroundMethodInfluentialSelf-citationPopulation genomics based on low coverage sequencing: how low should we go?
Buerkle, C. A., & Gompert, Z. (2012) · Molecular Ecology · doi:10.1111/mec.12105 · Cited by 220 · see citing works
“…analyses utilize allele frequencies or other population parameters, including their comparison between samples from different natural populations, experimental treatments or phenotypic categories (e.g., Burke et al. 2010; Simonson et al. 2010; Turner et al. 2010; Yi et al. 2010; Jones et al. 2012).”
BackgroundGou, X., Wang, Z., Li, N., Qiu, F., Xu, Z., Yan, D., Yang, S., Jia, J., Kong, X., Wei, Z., et al. (2014) · Genome Research · doi:10.1101/gr.171876.113 · Cited by 213 · see citing works
“…have been performed for three typical highland populations including Tibetans (Beall et al. 2010; Bigham et al. 2010; Simonson et al. 2010; Yi et al. 2010; Peng et al. 2011; Xu et al. 2011), Andeans (Bigham et al. 2009, 2010), and Ethiopians (Alkorta-Aranburu et al. 2012; Scheinfeldt et…”
BackgroundInfluentialSelf-citationJeong, C., Ozga, A. T., Witonsky, D., Malmström, H., Edlund, H., Hofman, C. A., Hagan, R. W., Jakobsson, M., Lewis, C. M., Aldenderfer, M. S., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1520844113 · Cited by 207 · see citing works
“Consequently, the subsequent selection of this haplotype in humans is difficult to model using genetic data from living populations, and dates ranging from 2,750 ya to 18,250 ya have been proposed (13, 17, 38).”
Method
- Authors
- Yi, X., Liang, Y., Huerta-Sanchez, E., Jin, X., Cuo, Z. X. P., Pool, J. E., Xu, X., Jiang, H., Vinckenbosch, N., Korneliussen, T. S., Zheng, H., Liu, T., He, W., Li, K., Luo, R., Nie, X., Wu, H., Zhao, M., Cao, H., Zou, J., Shan, Y., Li, S., Yang, Q., Asan, Ni, P., Tian, G., Xu, J., Liu, X., Jiang, T., Wu, R., Zhou, G., Tang, M., Qin, J., Wang, T., Feng, S., Li, G., Huasang, Luosang, J., Wang, W., Chen, F., Wang, Y., Zheng, X., Li, Z., Bianba, Z., Yang, G., Wang, X., Tang, S., Gao, G., Chen, Y., Luo, Z., Gusang, L., Cao, Z., Zhang, Q., Ouyang, W., Ren, X., Liang, H., Zheng, H., Huang, Y., Li, J., Bolund, L., Kristiansen, K., Li, Y., Zhang, Y., Zhang, X., Li, R., Li, S., Yang, H., Nielsen, R., Wang, J., & Wang, J.
- Affiliations
- BGI Group (China) (CN)
- Department of Integrative Biology and Department of Statistics, University of California Berkeley, Berkeley, CA 94820, USA.
- Tibet Autonomous Region People's Hospital (CN)
- University of California, Davis (US)
- University of California, Berkeley (US)
- University of Copenhagen (DK)
- The Military General Hospital of Tibet, Lhasa, 850007, China.
- The hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong 666100, Yunnan, China.
- Corresponding author
- Yi, Xin
- Liang, Yu
- Jin, Xin
- Cuo, Zha Xi Ping
- Pool, John E.
- ORCID
- Yi, Xin
- Liang, Yu
- Jin, Xin
- Pool, John E.
- Xu, Xun
- Jiang, Hui
- Korneliussen, Thorfinn Sand
- Zheng, Hancheng
- Liu, Tao
- He, Weiming
- Luo, Ruibang
- Wu, Honglong
- Cao, Hongzhi
- Zou, Jing
- Shan, Ying
- Yang, Qi
- Tian, Geng
- Xu, Junming
- Liu, Xiao
- Wu, Renhua
- Zhou, Guangyu
- Tang, Meifang
- Qin, Junjie
- Wang, Tong
- Wang, Wei
- Chen, Fang
- Li, Zhuo
- Yang, Ge
- Tang, Shuhui
- Gao, Guoyi
- Luo, Zhen
- Gusang, Lamu
- Zhang, Qinghui
- Liang, Huiqing
- Bolund, Lars
- Kristiansen, Karsten
- Li, Yingrui
- Zhang, Yong
- Zhang, Xiuqing
- Li, Ruiqiang
- Li, Songgang
- Yang, Huanming
- Nielsen, Rasmus
- Wang, Jun
- Wang, Jian
- Venue
- Science
- Published
- 2010-07-02
- Volume
- 329
- Issue
- 5987
- Pages
- 75-78
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3711608
- OpenAlex
- W2147575903
- Cited by
- 1,611
- References
- 35
- Citations by year
- 2026: 92 · 2025: 95 · 2024: 90 · 2023: 123 · 2022: 113 · 2021: 123 · 2020: 101 · 2019: 106 · 2018: 84 · 2017: 88 · 2016: 105 · 2015: 111 · 2014: 95 · 2013: 97 · 2012: 90
- FWCI
- 50.78
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (124318)
- U.S. Public Health Service (R01-MHG084695)
- National Institute on Alcohol Abuse and Alcoholism (R21AA022707)
- National Institute of Mental Health (R01MH084695)
- National Human Genome Research Institute (R01HG003229)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › High Altitude and Hypoxia
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- high-altitude adaptation, Tibetan Plateau, EPAS1, natural selection, hypoxia response, allele frequency change, single nucleotide polymorphisms, Han Chinese, population genomics, exome sequencing
- MeSH terms
- Acclimatization, Endothelial PAS Domain-Containing Protein 1, Altitude, Bayes Theorem, China, Erythrocyte Count, Ethnicity, Exons, Female, Gene Frequency, Hemoglobins, Humans, Male, Oxygen, Selection, Genetic, Genome, Human, Sequence Analysis, DNA, Tibet, Polymorphism, Single Nucleotide, Asian People, Basic Helix-Loop-Helix Proteins, Basic Helix-Loop-Helix Transcription Factors, Genetic Association Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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