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Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Open accessAbstract
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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“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]
In the citing paper
“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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Citations
Cites
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.
Tajima, F. (1989) · Genetics · doi:10.1093/genetics/123.3.585 · Cited by 14,056
SOAP2: an improved ultrafast tool for short read alignment
Li, R., Yu, C., Li, Y., Lam, T., Yiu, S., Kristiansen, K., & Wang, J. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp336 · Cited by 3,763
Self-citationAccurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684
Self-citationSOAP: Short oligonucleotide alignment program
Li, R., Li, Y., Kristiansen, K., & Wang, J. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn025 · Cited by 3,597
Self-citationGenerating samples under a Wright–Fisher neutral model of genetic variation
Hudson, R. R. (2002) · Bioinformatics · doi:10.1093/bioinformatics/18.2.337 · Cited by 2,397
Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H., & Bustamante, C. D. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000695 · Cited by 1,906
ESTIMATION OF THE COANCESTRY COEFFICIENT: BASIS FOR A SHORT-TERM GENETIC DISTANCE
Reynolds, J., Weir, B. S., & Cockerham, C. C. (1983) · Genetics · doi:10.1093/genetics/105.3.767 · Cited by 1,803
Hentze, M. W., Muckenthaler, M. U., & Andrews, N. C. (2004) · Cell · doi:10.1016/s0092-8674(04)00343-5 · Cited by 1,736
Differential Roles of Hypoxia-Inducible Factor 1α (HIF-1α) and HIF-2α in Hypoxic Gene Regulation
Hu, C.-J., Wang, L.-Y., Chodosh, L. A., Keith, B., & Simon, M. C. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.24.9361-9374.2003 · Cited by 1,386
The Fine-Scale Structure of Recombination Rate Variation in the Human Genome
McVean, G., Myers, S., Hunt, S. E., Deloukas, P., Bentley, D., & Donnelly, P. (2004) · Science · doi:10.1126/science.1092500 · Cited by 989
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Zhang, T., Peng, W., Xiao, H., Cao, S., Chen, Z., Su, X., Luo, Y., Liu, Z., Peng, Y., Yang, X., et al. (2024) · Journal of Integrative Plant Biology · doi:10.1111/jipb.13653 · Cited by 24
Self-citationFatemian, M., Herigstad, M., Croft, Q. P. P., Formenti, F., Cardenas, R., Wheeler, C., Smith, T. G., Friedmannova, M., Dorrington, K. L., & Robbins, P. A. (2015) · The Journal of Physiology · doi:10.1113/jp270061 · Cited by 26
Gu, P., Liu, W., Yao, Y., Ni, Q., Zhang, M., Li, D., & Xu, H. (2014) · Mitochondrial DNA Part A · doi:10.3109/19401736.2014.900667 · Cited by 26
“…pathway, endothelial PAS domain protein 1 (EPAS1) and EGLN1 in Tibetan-Han populations (Beall et al., 2010; Peng et al., 2011; Xu et al., 2011; Yi et al., 2010), ARNT2 and THRB in Ethiopian highlands (Scheinfeldt et al., 2012) and ENDRA, PRKAA1, NOS2A in Andean populations (Bigham et al.,…”
BackgroundFunctional Genomic Insights into Regulatory Mechanisms of High-Altitude Adaptation
Storz, J. F., & Cheviron, Z. A. (2016) · Advances in experimental medicine and biology · doi:10.1007/978-1-4899-7678-9_8 · Cited by 26
Townley, I. K., Karchner, S. I., Skripnikova, E., Wiese, T. E., Hahn, M. E., & Rees, B. B. (2016) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.00402.2016 · Cited by 24
Zhang, Q., Zhang, L., Yang, X., Wang, X., Li, X., Wang, J., Chen, J., & Yuan, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-17051-4 · Cited by 24
Self-citationExpression of fetal hemoglobin in adult humans exposed to high altitude hypoxia
Risso, A., Fabbro, D., Damante, G., & Antonutto, G. (2012) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2011.12.004 · Cited by 28
Joint genotyping on the fly: Identifying variation among a sequenced panel of inbred linesPreprint
Stone, E. A. (2012) · Genome Research · doi:10.1101/gr.129122.111 · Cited by 25
“Consequently, it has become possible to survey genomic variation at unprecedented resolution, and many such studies are under way (e.g., The 1000 Genomes Project Consortium 2010; Li et al. 2010; Yi et al. 2010).”
BackgroundAncestral Origins and Admixture History of Kazakhs
Lei, C., Liu, J., Zhang, R., Pan, Y., Lü, Y., Gao, Y., Ma, X., Yang, Y., Guan, Y., Mamatyusupu, D., et al. (2024) · Molecular Biology and Evolution · doi:10.1093/molbev/msae144 · Cited by 25
“We conducted a population branch statistics (PBS) analysis on the KZK population using the CHS and CEU populations as reference groups.”
MethodInfluentialHeterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa
Janivara, R., Chen, W. C., Hazra, U., Baichoo, S., Agalliu, I., Kachambwa, P., Simonti, C. N., Brown, L., Tambe, S. P., Kim, M. S., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01931-3 · Cited by 26
Lucas, E. R., Nagi, S. C., Kabula, B. I., Batengana, B., Kisinza, W. N., Egyir-Yawson, A., Essandoh, J., Dadzie, S., Chabi, J., Hof, A. E. V., et al. (2024) · PLoS Biology · doi:10.1371/journal.pbio.3002898 · Cited by 26
Cardiac adaptive mechanisms of Tibetan antelope (Pantholops hodgsonii) at high altitudes
Rong, C., Ma, Y., Zhen-Zhong, B., Yang, Y., Dian-Xiang, L., Qi-sheng, M., Qing, G., Liu, Y., & Ge, R. (2012) · American Journal of Veterinary Research · doi:10.2460/ajvr.73.6.809 · Cited by 24
“Indeed, the genes EPAS1 (HIF2 ), EGLN1 (a regulator of HIF), and PPARA (a transcriptional target of 10,20,21 adaptation residents of high-altitude environments.”
BackgroundFast diffusion of domesticated maize to temperate zones
Li, X., Jian, Y., Xie, C., Wu, J., Xu, Y., & Zou, C. (2017) · Scientific Reports · doi:10.1038/s41598-017-02125-0 · Cited by 25
The evolutionary pathways for local adaptation in mountain hares
Giska, I., Pimenta, J., Farelo, L., Boursot, P., Hackländer, K., Jenny, H., Reid, N., Montgomery, I. W., Prodöhl, P. A., Alves, P. C., et al. (2022) · Molecular Ecology · doi:10.1111/mec.16338 · Cited by 24
“Using the low individual coverage whole-genome sequencing data, we performed genome scans of the population branch statistics (PBS), which has been shown to have power to detect recent positive selection (Yi et al., 2010).”
MethodYang, S., Lan, T., Zhang, Y., Wang, Q., Li, H., Dussex, N., Sahu, S. K., Shi, M., Hu, M.-Y., Zhu, Y., et al. (2022) · Molecular Ecology Resources · doi:10.1111/1755-0998.13702 · Cited by 22
“The population branch statistic (PBS) was then performed to investigate the recent selective effect (Yi et al., 2010) in each population.”
MethodSelf-citationZhong, H., Kong, X., Zhang, Y., Su, Y., Zhang, B., Zhu, L., Chen, H., Gou, X., & Zhang, H. (2022) · Evolutionary Applications · doi:10.1111/eva.13503 · Cited by 23
Self-citationHe, G., Chen, J., Liu, Y., Hu, R., Wang, P., Duan, S., Sun, Q., Tang, R., Tang, R., Yang, J., et al. (2024) · BMC Biology · doi:10.1186/s12915-024-01828-x · Cited by 26
“We performed a PBS analysis [105] and adopted the SXH and Europeans from the HGDP as the second and reference populations to identify HM-specific signatures of local adaptation.”
Method’ome on the Range: Altitude Adaptation, Positive Selection, and Himalayan Genomics
MacInnis, M. J., & Rupert, J. L. (2011) · High Altitude Medicine & Biology · doi:10.1089/ham.2010.1090 · Cited by 24
“Whether this is the case for EPAS1 is unknown, a Oxygen-related candidate gene(s), as identified by Yi et al., (2010) within 100kB of the identified gene are in parentheses.”
Mitochondrial nt3010G-nt3970C haplotype is implicated in high-altitude adaptation of Tibetans
Luo, Y., Gao, W., Liu, F., & Gao, Y. (2011) · Mitochondrial DNA · doi:10.3109/19401736.2011.632771 · Cited by 24
Xu, J., Yang, Y.-Z., Tang, F., Ga, Q., Wuren, T., Wang, Z., Ma, L., Rondina, M. T., & Ge, R.-L. (2015) · Gene · doi:10.1016/j.gene.2015.04.056 · Cited by 24
Self-citationHsieh, M. M., Callacondo, D., Rojas-Camayo, J., Quesada-Olarte, J., Wang, X., Uchida, N., Marić, I., Remaley, A. T., Lèon‐Velarde, F., Villafuerte, F. C., et al. (2016) · Experimental Hematology · doi:10.1016/j.exphem.2016.02.010 · Cited by 24
“These SNPs were first discovered through whole-genome scans and confirmed by targeted or whole-exome sequencing [10– 13].”
BackgroundSelf-citationWhen genes and environment disagree: Making sense of trends in recent human evolution
Courtiol, A., Tropf, F. C., & Mills, M. C. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1608532113 · Cited by 25
Fan, X., Ma, L., Zhang, Z., Li, Y., Hao, M., Zhao, Z., Zhao, Y., Liu, F., Liu, L., Luο, X., et al. (2018) · Human Genomics · doi:10.1186/s40246-018-0169-z · Cited by 24
“Of these genes, EPHA2 can affect erythrocyte production by regulating EPO production and EPAS1 has been implicated as making the greatest contribution to genetic adaptation to high altitude and to the low Hb concentrations observed in the Tibetan population [18, 21].”
Self-citationNeuroprotectants attenuate hypobaric hypoxia-induced brain injuries in cynomolgus monkeys
Pei, Z., Chen, J.-S., Li, Q., Sheng, L., Yi-Xing, G., Lu, B., Zhu, W., Xiao-Yu, Z., Yuan, L., Yuan, Z.-B., et al. (2020) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2020.012 · Cited by 24
Self-citationEPAS1 regulates proliferation of erythroblasts in chronic mountain sickness
Liu, H., Tang, F., Su, J., Ma, J., Qin, Y., Ji, L., Geng, H., Wang, S., Zhang, P., Liu, J., et al. (2020) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2020.102446 · Cited by 22
Self-citation50,000 years of Evolutionary History of India: Insights from ~2,700 Whole Genome SequencesPreprint
Kerdoncuff, É., Skov, L., Patterson, N. J., Zhao, W., Lueng, Y. Y., Schellenberg, G. D., Smith, J. A., Dey, S., Ganna, A., Dey, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.15.580575 · Cited by 26
Genetic Adaptations of the Tibetan Pig to High-Altitude Hypoxia on the Qinghai–Tibet Plateau
Yang, Y., Yuan, H., Yao, B., Zhao, S., Wang, X., Xu, L., & Zhang, L. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252011303 · Cited by 23
“Numerous studies have identified EPAS1 and EGLN1 as key genes for high-altitude adaptation, and structural variants (SVs) play a role in EPAS1 function [23–25].”
BackgroundSelf-citationQi, G., Yin, S., Zhang, G., & Wang, X. (2019) · The Pharmacogenomics Journal · doi:10.1038/s41397-019-0104-2 · Cited by 23
Self-citationBhattacharya, S., Shrimali, N. M., Mohammad, G., Koul, P. A., Prchal, J. T., & Guchhait, P. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103418 · Cited by 22
“[15] Yi X , Liang Y , Huerta-Sanchez E , Jin X , Cuo ZX , Pool JE , et al.”
BackgroundApportioning archaic variants among modern populations
Witt, K. E., Villanea, F. A., Loughran, E., Zhang, X., & Huerta‐Sánchez, E. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0411 · Cited by 27
Self-citationGenetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan
Yang, Z., Chen, H., Lü, Y., Gao, Y., Sun, H., Wang, J., Li, J., Chu, J., & Xu, S. (2022) · BMC Biology · doi:10.1186/s12915-022-01367-3 · Cited by 23
“West populations, we calculated the Population Branch Statistic (PBS) for each gene [42], using HAN and CEU as the second and third populations, respectively.”
MethodSelf-citationShpak, M., Ghanavi, H. R., Lange, J. D., Pool, J. E., & Stensmyr, M. C. (2023) · PLoS Biology · doi:10.1371/journal.pbio.3002333 · Cited by 24
“PBE is based on the PBS [32], which essentially estimates the length of the focal population’s branch (in terms of allele frequency differentiation).”
BackgroundMethodInfluentialSelf-citationPositive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
André, M., Brucato, N., Hudjashov, G., Pankratov, V., Yermakovich, D., Montinaro, F., Kreevan, R., Kariwiga, J., Muke, J., Boland, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-47735-1 · Cited by 27
Ishigohoka, J., Bascón-Cardozo, K., Bours, A., Fuß, J., Rhie, A., Mountcastle, J., Haase, B., Chow, W., Collins, J., Howe, K., et al. (2024) · Evolution · doi:10.1093/evolut/qpae117 · Cited by 26
“Reduced diversity ( π ) is a signature of selection (Delmore et al., 2018; Irwin et al., 2018; Pracana et al., 2017), and by combining it with variation among populations, loci associated with population-specific selection can be also inferred (Yi et al., 2010).”
BackgroundConvergent evolution of SOCS4 between yak and Tibetan antelope in response to high-altitude stress
Wang, Z., Ma, T., Ma, J., Han, J., Ding, L., & Qiu, Q. (2015) · Gene · doi:10.1016/j.gene.2015.08.024 · Cited by 24
“The genomes of some mammals occurring in the QTP have been analyzed, including local human residents (Yi et al., 2010; Peng et al., 2011; Xu et al., 2011), yak (Qiu et al., 2012), Tibetan antelope (TA, Ge et al., 2013), Tibetan wild boar (Li et al., 2013), and Tibetan Mastiff (Gou et al., 2014; Li…”
Saeed, N. P., Reneman, R. S., & Hoeks, A. P. G. (2009) · Journal of Vascular Research · doi:10.1159/000200962 · Cited by 23
HIF2A Variants Were Associated with Different Levels of High-Altitude Hypoxia among Native Tibetans
Basang, Z., Wang, B., Li, L., Yang, L., Liu, L., Cui, C., Lanzi, G., Nima, Y., Duo, J., Zheng, H., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0137956 · Cited by 23
“In the past three years, seven GW studies of high-altitude adaptation in Tibetan populations identified positive selection signals in genetic variants of HIF2A (EPAS1) gene [18–24], indicating that nature selection at theHIF2A locus occurred frequently throughout the Qinghai-Tibetan Plateau and therefore were liable t…”
BackgroundSelf-citationThe cultural context of biological adaptation to high elevation Tibet
Barton, L. (2016) · Archaeological Research in Asia · doi:10.1016/j.ara.2016.01.001 · Cited by 24
How well do we understand the basis of classic selective sweeps in humans?
Szpak, M., Xue, Y., Ayub, Q., & Tyler‐Smith, C. (2019) · FEBS Letters · doi:10.1002/1873-3468.13447 · Cited by 22
Yang, Q., Chen, H., Ye, J., Liu, C., Wei, R., Chen, C., & Huang, L. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01174 · Cited by 23
Self-citationZhao, P., Li, S., He, Z., & Ma, X. (2024) · Animals · doi:10.3390/ani14203031 · Cited by 23
Self-citationSexual selection promotes reproductive isolation in barn swallows
Schield, D. R., Carter, J. K., Scordato, E. S. C., Levin, I. I., Wilkins, M. R., Mueller, S. A., Gompert, Z., Nosil, P., Wolf, J. B. W., & Safran, R. J. (2024) · Science · doi:10.1126/science.adj8766 · Cited by 26
Wu, X., Ding, X., Chu, M., Guo, X., Bao, P., Liang, C., & Yan, P. (2015) · Journal of Integrative Agriculture · doi:10.1016/s2095-3119(14)60854-6 · Cited by 26
Role of Hypoxia-Inducible Factors in Acute Kidney Injury
Andringa, K. K., & Agarwal, A. (2014) · Nephron Clinical Practice · doi:10.1159/000363669 · Cited by 22
Zhang, H., He, Y., Cui, C., Ouzhuluobu, Baimakangzhuo, Duojizhuoma, Dejiquzong, Bianba, Gonggalanzi, Pan, Y., et al. (2017) · American Journal of Hematology · doi:10.1002/ajh.24809 · Cited by 22
“[6] Yi X, Liang Y, Huerta-Sanchez E, et al.”
Self-citationNovel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders
Iranmehr, A., Stobdan, T., Zhou, D., Poulsen, O., Strohl, K. P., Aldashev, A. A., Telenti, A., Wong, E., Kirkness, E. F., Venter, J. C., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0270-8 · Cited by 21
2019 Nobel Prize in Physiology or Medicine
Prabhakar, N. R. (2020) · Physiology · doi:10.1152/physiol.00001.2020 · Cited by 22
Ayoola, A. O., Zhang, B.-L., Meisel, R. P., Nneji, L. M., Shao, Y., Morenikeji, O. B., Adeola, A. C., Ng’ang’a, S. I., Ogunjemite, B. G., Okeyoyin, A. O., et al. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa248 · Cited by 21
“We focused on windows with extremely high divergence (top 1% PBS value).”
InfluentialHypoxia-inducible factors not only regulate but also are myeloid-cell treatment targets
Kling, L., Schreiber, A., Eckardt, K., & Kettritz, R. (2020) · Journal of Leukocyte Biology · doi:10.1002/jlb.4ri0820-535r · Cited by 25
Impacts of Changes in Atmospheric O2 on Human Physiology. Is There a Basis for Concern?
Keeling, R. F., Powell, F. L., Shaffer, G., Robbins, P. A., & Simonson, T. S. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.571137 · Cited by 22
“Both are associated with relatively lower hemoglobin concentration in Tibetans resident at high altitude (Beall et al., 2010; Simonson et al., 2010; Yi et al., 2010).”
BackgroundOSL Chronology of the Siling Co Paleolithic Site in Central Tibetan Plateau
Luo, L., Lai, Z., Zheng, W., Xu, Y., Yu, L., Huang, C., & Tu, H. (2021) · Frontiers in Earth Science · doi:10.3389/feart.2021.699693 · Cited by 22
Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions
Caro-Consuegra, R., Nieves-Colón, M. A., Rawls, E., Massa, V. R. D. C., Lizárraga, B., Vidaurre, T., Sandoval, K., Fejerman, L., Stone, A. C., Moreno‐Estrada, A., et al. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac158 · Cited by 25
“Among these, EGLN1 plays a critical role in oxygen homeostasis in mammals and has been found to be under selection in both Andean and Tibetan populations (Bigham et al. 2009; Yi et al. 2010).”
Influentialda Fonseca, R. R., Campos, P. F., Rey‐Iglesia, A., Barroso, G. V., Bergeron, L. A., Nande, M., Tuya, F., Abidli, S., Pérez, M., Riveiro, I., et al. (2024) · Genes · doi:10.3390/genes15020170 · Cited by 23
“To detect genomic windows of high differentiation in each region, we estimated the population branch statistic [49] for non-overlapping windows of 50 kb in ANGSD using this same approach with three populations with 10 individuals each (Tables S1–S3).”
MethodPainschab, M., Malpartida, G., Dávila‐Román, V. G., Gilman, R. H., Kolb, T. M., Lèon‐Velarde, F., Miranda, J. J., & Checkley, W. (2015) · High Altitude Medicine & Biology · doi:10.1089/ham.2014.1086 · Cited by 21
“…the hypoxia-inducible factor (HIF) pathway as important in the pathogenesis of CMS. Genome-wide association studies and two candidate studies of HIF2A (aka EPAS1) in Tibetan highlanders have confirmed a genetic variant in the transcription factor HIF-2a (Simonson et al., 2010; Yi et al., 2010).”
BackgroundAnalysis of Human Triallelic SNPs by Next‐Generation Sequencing
Cao, M., Shi, J., Wang, J., Hong, J., Cui, B., & Ning, G. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12114 · Cited by 22
Self-citationInferring positive selection in humans from genomic data
Wollstein, A., & Stephan, W. (2015) · Investigative Genetics · doi:10.1186/s13323-015-0023-1 · Cited by 25
“The EPAS1 and EGLN1 genes show strong signatures of selective sweeps in Tibetans; that is, an increased differentiation in allele frequency compared to East Asian populations and an increased LD [131-133].”
BackgroundA haplotype method detects diverse scenarios of local adaptation from genomic sequence variation
Lange, J. D., & Pool, J. E. (2016) · Molecular Ecology · doi:10.1111/mec.13671 · Cited by 20
“Research of this nature has identified genes that contributed to human adaptation to local environments (e.g. Yi et al. 2010; Fumagalli et al. 2011; Hancock et al. 2011).”
BackgroundSelf-citationDetecting Signatures of Positive Selection along Defined Branches of a Population Tree Using LSD
Librado, P., & Orlando, L. (2018) · Molecular Biology and Evolution · doi:10.1093/molbev/msy053 · Cited by 28
“Adaptation to local environments allowed life to spread across all ecosystems around the globe, ranging from deep-sea floors to high altitude mountain ranges (Yi et al. 2010; Fan et al. 2016; Sun et al. 2017).”
Signatures of natural selection on genetic variants affecting complex human traits
Zhang, G., Muglia, L. J., Chakraborty, R., Akey, J. M., & Williams, S. M. (2013) · Applied & Translational Genomics · doi:10.1016/j.atg.2013.10.002 · Cited by 25
“…2002) in malaria resistance, LCT (Bersaglieri et al., 2004; Poulter et al., 2003) in lactose tolerance, SLC24A5 (Lamason et al., 2005) in skin pigmentation, EPAS1 (Yi et al., 2010) in high-altitude tolerance, and EDAR in adaptation to humid environment (Kamberov et al., 2013; Sabeti et al., 2007).”
BackgroundA longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau
Jeong, C., Peter, B. M., Basnyat, B., Neupane, M., Beall, C. M., Childs, G. H., Craig, S. R., Novembre, J., & Rienzo, A. D. (2017) · PLoS ONE · doi:10.1371/journal.pone.0175885 · Cited by 23
Lozada‐Chávez, A. N., Lozada-Chávez, I., Alfano, N., Palatini, U., Sogliani, D., Elfékih, S., Degefa, T., Sharakhova, M. V., Badolo, A., Sriwichai, P., et al. (2025) · Nature Ecology & Evolution · doi:10.1038/s41559-025-02643-5 · Cited by 25
“Notably, on average 65.8% (95% CI = [64.59, 66.96]) and 44.7% (95% CI = [43.72, 45.75]) of all SNPs located within protein-coding genes and ncRNAs harbouring adaptive variants in out-of-Africa populations, respectively (as detected by the three methods), were also found to be polymorphic in at…”
InfluentialGenome diversity and signatures of natural selection in mainland Southeast Asia
He, Y., Zhang, X., Peng, M., Li, Y.-C., Liu, K., Zhang, Y., Mao, L., Guo, Y., Ma, Y., Zhou, B., et al. (2025) · Nature · doi:10.1038/s41586-025-08998-w · Cited by 24
Self-citationBianba, B., Yangzong, Y., Gonggalanzi, G., Berntsen, S., Andersen, L. B., Stigum, H., Nafstad, P. H. J., & Bjertness, E. (2015) · Medicine · doi:10.1097/md.0000000000001516 · Cited by 22
Jia, X., Lee, H. F., Cui, M., Cheng, G., Zhao, Y., Ding, H. Y., Yue, R. P. H., & Lu, H. (2018) · Science China Earth Sciences · doi:10.1007/s11430-018-9301-5 · Cited by 21
Zhang, Y., Zhang, H., Zhang, B., Ling, Y., & Zhang, H. (2019) · Gene · doi:10.1016/j.gene.2019.144321 · Cited by 24
Self-citationFedorova, L. V., Владимирович, Х. А., Khvorykh, G. V., Lim, J., Thornton, N., Mulyar, O. A., Limborska, S., & Fedorov, A. (2022) · Genes · doi:10.3390/genes13081472 · Cited by 23
“However, their results could have been due to low efficacy of iHS and PBS metrics chosen for testing of signals of natural selection in the datasets containing many SNPs of low-to-moderate allele frequencies [40,41].”
BackgroundCastanera, R., Morales-Díaz, N., Gupta, S., Purugganan, M. D., & Casacuberta, J. (2023) · eLife · doi:10.7554/elife.86324 · Cited by 21
“In order to identify possible selection of TIPs in indica and japonica populations, we used the Population Branch Statistic (PBS) method (Yi et al., 2010) which examines strong differentiation in frequencies between populations.”
MethodDurkin, S. M., Ballinger, M. A., & Nachman, M. W. (2024) · PLoS Genetics · doi:10.1371/journal.pgen.1010892 · Cited by 22
Skin colour: A window into human phenotypic evolution and environmental adaptation
Liu, J., Bitsue, H. K., & Yang, Z. (2024) · Molecular Ecology · doi:10.1111/mec.17369 · Cited by 26
“…O-acyltransferase ( GNPAT ) showed strong positive selection in Tibetans, with a selection signal that was only slightly weaker than EPAS1 and EGLN1 , the known genes for adaptation to high altitude hypoxia (Peng et al., 2011; Simonson et al., 2010; Xiang et al., 2013; Yi et al., 2010).”
BackgroundThe promise and limitations of population exomics for human evolution studies
Tennessen, J. A., O’Connor, T. D., Bamshad, M. J., & Akey, J. M. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-127 · Cited by 21
“So far, the clearest example of positive selection inferred from exome data is the hypoxia response gene EPAS1, which has evolved rapidly in highaltitude Tibetan populations [21].”
BackgroundZhou, J., Zhou, S.-W., Du, X., & Zeng, S.-Y. (2012) · Molecules · doi:10.3390/molecules171011585 · Cited by 21
“Other possible factors related to HAPC include genetic adaptation, regulation of hypoxia-inducible factor-1, reactivity to erythropoietin, and delivery of iron [8,9].”
BackgroundAncient population genomics and the study of evolution
Parks, M., Subramanian, S., Baroni, C. D., Salvatore, M. C., Zhang, G., Millar, C. D., & Lambert, D. M. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0381 · Cited by 27
“[27]).”
Arsenault, P. R., Song, D., Chung, Y. J., Khurana, T. S., & Lee, F. S. (2016) · Molecular and Cellular Biology · doi:10.1128/mcb.00090-16 · Cited by 24
Liu, J., Liu, Y., Ren, L.-H., Li, L., Wang, Z., Liu, S., Li, S.-Z., & Cao, T. (2016) · Scientific Reports · doi:10.1038/srep30500 · Cited by 21
Self-citationAdaptation to infectious disease exposure in indigenous Southern African populations
Owers, K. A., Sjödin, P., Schlebusch, C. M., Skoglund, P., Soodyall, H., & Jakobsson, M. (2017) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2017.0226 · Cited by 23
Zhang, C., Gao, Y., Liu, J., Xue, Z., Lü, Y., Deng, L., Tian, L., Feng, Q., & Xu, S. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1032 · Cited by 20
Brüniche–Olsen, A., Westerman, R., Kazmierczyk, Z., Vertyankin, V. V., Godard‐Codding, C., Bickham, J. W., & DeWoody, J. A. (2018) · BMC Evolutionary Biology · doi:10.1186/s12862-018-1204-3 · Cited by 24
He, G., Wang, Z., Su, Y., Zou, X., Wang, M., Chen, X., Gao, B., Liu, J., Wang, S., & Hou, Y. (2019) · Scientific Reports · doi:10.1038/s41598-019-44230-2 · Cited by 21
Genetic architecture and adaptations of Nunavik Inuit
Zhou, S., Xie, P., Quoibion, A., Ambalavanan, A., Dionne‐Laporte, A., Spiegelman, D., Bourassa, C. V., Xiong, L., Dion, P. A., & Rouleau, G. A. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1810388116 · Cited by 23
“Population branch statistics (PBSs) (20) using pairwise FST comparisons of three populations were generated to test for genes under natural selection.”
MethodFu, M., Wang, Y., Ren, H., Weiguang, D., Wang, D., Rongjun, B., Yang, X., Tian, Z., Fu, L., Cheng, Y., et al. (2020) · Theoretical and Applied Genetics · doi:10.1007/s00122-020-03558-4 · Cited by 21
Self-citationVelotta, J. P., Robertson, C. E., Schweizer, R. M., McClelland, G. B., & Cheviron, Z. A. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa086 · Cited by 21
An horizon scan of biogeography
Dawson, M. N., Algar, A. C., Antonelli, A., Dávalos, L. M., Davis, E., Early, R., Guisan, A., Jansson, R., Lessard, J., Marske, K. A., et al. (2013) · Frontiers of Biogeography · doi:10.21425/f55218854 · Cited by 21
Chronic hypoxia impairs skeletal muscle repair via HIF‐2α stabilization
Yin, A., Fu, W., Elengickal, A. J., Kim, J., Liu, Y., Bigot, A., Mamchaoui, K., Call, J. A., & Yin, H. (2024) · Journal of Cachexia Sarcopenia and Muscle · doi:10.1002/jcsm.13436 · Cited by 22
The MUC19 gene: An evolutionary history of recurrent introgression and natural selection
Villanea, F. A., Peede, D., Kaufman, E. J., Añorve-Garibay, V., Chevy, E. T., Villa-Islas, V., Witt, K. E., Zeloni, R., Marnetto, D., Moorjani, P., et al. (2025) · Science · doi:10.1126/science.adl0882 · Cited by 25
GUO, L., Zhang, J., Jin, J., Gao, X., Yu, J., GENG, Q., Li, H., & Huang, L. J. (2015) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2015.2611 · Cited by 21
“Numerous genome-wide studies (7-11) and other reports (12-14) of genetic variations in native Tibetan highland populations have revealed that SNPs of endothelial PAS domain protein 1 (EPAS1), which is also known as hypoxia-inducible factor-2α (HIF-2α), have a strong and positive selection in high-altitude hypoxia adap…”
BackgroundWang, W., Zhou, B., He, J., Zhao, J., Liu, C., Chen, X., Xing, G., Chen, S., Han, X., & Gai, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21144830 · Cited by 20
“The RealSFS [41] was used for population SNP-calling based on the Bayesian estimation of locus frequency.”
MethodSelf-citationUrinary Metabolites as Predictors of Acute Mountain Sickness Severity
Sibomana, I., Foose, D. P., Raymer, M. L., Reo, N. V., Karl, J. P., Berryman, C. E., Young, A., Pasiakos, S. M., & Mauzy, C. A. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.709804 · Cited by 20
“, 2019), suggesting that genetic polymorphisms influence high altitude adaptation (Yi et al., 2010).”
BackgroundMa, X., & Xu, S. (2022) · iScience · doi:10.1016/j.isci.2022.105614 · Cited by 22
Pan, Y., Wen, J., Ning, Z., Yuan, Y., Liu, X., Yang, Y., Guan, Y., Lü, Y., Mamatyusupu, D., & Xu, S. (2023) · Molecular Biology and Evolution · doi:10.1093/molbev/msad054 · Cited by 20
Self-citationIndigenous people from Amazon show genetic signatures of pathogen-driven selection
Couto-Silva, C. M., Nunes, K., Venturini, G., Silva, M. A. C. E., Pereira, L. V., Comas, D., Pereira, A. C., & Hünemeier, T. (2023) · Science Advances · doi:10.1126/sciadv.abo0234 · Cited by 20
Genomic adaptive potential to cold environments in the invasive red swamp crayfish
Sato, D. X., Matsuda, Y., Usio, N., Funayama, R., Nakayama, K., & Makino, T. (2023) · iScience · doi:10.1016/j.isci.2023.107267 · Cited by 21
Structural genomic variation and migratory behavior in a wild songbird
Delmore, K. E., Doren, B. M. V., Ullrich, K. K., Curk, T., van der Jeugd, H. P., & Liedvogel, M. (2023) · Evolution Letters · doi:10.1093/evlett/qrad040 · Cited by 26
“We used two different programs to look for functional enrichment at genes overlapping SVs showing evidence for selection (i.e., with PBS values in the top 5% of the distribution): (a) BINGO (Maere et al., 2005) to look for enrichment of specific GO categories and (b) go:Profiler (Raudvere et al., 2019) to look for enr…”
MethodInfluentialGe, J., Zhang, X., Wang, S., Li, L., He, W., Jin, Y., Zhang, P., Xu, B., Deng, C., Olsen, J. W., et al. (2023) · Science China Earth Sciences · doi:10.1007/s11430-022-1225-7 · Cited by 23
Self-citationHuman evolutionary genomics: ethical and interpretive issues
Vitti, J. J., Cho, M. K., Tishkoff, S. A., & Sabeti, P. C. (2012) · Trends in Genetics · doi:10.1016/j.tig.2011.12.001 · Cited by 20
Common Genetic Variants Associated with Resting Oxygenation in Chronic Obstructive Pulmonary Disease
McDonald, M., Cho, M. H., Sørheim, I.-C., Lutz, S. M., Castaldi, P. J., Lomas, D. A., Coxson, H. O., Edwards, L. D., MacNee, W., Vestbo, J., et al. (2014) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2014-0135oc · Cited by 20
A biogeographic perspective on early human colonization of the Tibetan Plateau
Rhode, D. (2016) · Archaeological Research in Asia · doi:10.1016/j.ara.2016.01.004 · Cited by 21
Wang, Y., Lu, H., Chen, Y., & Luo, Y. (2016) · Journal of the Renin-Angiotensin-Aldosterone System · doi:10.1177/1470320315627410 · Cited by 20
Self-citationAdaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert
Vicuña, L., Fernández, M. I., Vial, C., Valdebenito, P., Chaparro, E., Espinoza, K., Ziegler, A., Bustamante, A., & Eyheramendy, S. (2019) · Genome Biology and Evolution · doi:10.1093/gbe/evz172 · Cited by 19
Fu, M., Wang, Y., Ren, H., Weiguang, D., Yang, X., Wang, D., Yanxi, C., Zhao, J., & Gai, J. (2020) · Crop Science · doi:10.1002/csc2.20024 · Cited by 20
Self-citationUltrasound for High Altitude Research
Fagenholz, P. J., Murray, A. F., Noble, V. E., Baggish, A. L., & Harris, N. S. (2011) · Ultrasound in Medicine & Biology · doi:10.1016/j.ultrasmedbio.2011.10.004 · Cited by 20
Metadata
- 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
- Health Sciences › Medicine › Physiology (medical) › 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
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