ArticleGenome biology2014
Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes.
Article in Genome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48 citing papers in PubMed, 92 citations in OpenAlex.
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- Transcriptome analysis of five-toed jerboa organs reveals high-altitude adaptation mechanisms.BMC genomics · 2025Article
- Article
- Physiological and Genetic Basis of High-Altitude Indigenous Animals' Adaptation to Hypoxic Environments.Animals : an open access journal from MDPI · 2024Review
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- FunctionalScience advances · 2024Article
- Genomic and physiological mechanisms of high-altitude adaptation in Ethiopian highlanders: a comparative perspective.Frontiers in genetics · 2024Review
- WGS Data Collections: How Do Genomic Databases Transform Medicine?International journal of molecular sciences · 2023Review
- Genomic architecture of adaptive radiation and hybridization in Alpine whitefish.Nature communications · 2022Article
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- Heterozygous Tropomodulin 3 mice have improved lung vascularization after chronic hypoxia.Human molecular genetics · 2022Article
- Genetic differentiation in East African ethnicities and its relationship with endurance running success.PloS one · 2022Article
- Multiple mechanisms drive genomic adaptation to extreme ONature communications · 2021Article
- High-altitude adaptation: Role of genetic and epigenetic factors.Journal of biosciences · 2021Review
- [A Review of High-altitude Hypoxia Adaptation and Hypoxic Solid Tumor].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2021Review
- Positive selection in admixed populations from Ethiopia.BMC genetics · 2020Article
- Cross-Species Insights Into Genomic Adaptations to Hypoxia.Frontiers in genetics · 2020Review
- Convergent evolution in human and domesticate adaptation to high-altitude environments.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Review
- Article
- Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders.European journal of human genetics : EJHG · 2019Article
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Authors and funding
27 authors at 9 institutions in 5 countries.
Funding
Abstract
backgroundAlthough it has long been proposed that genetic factors contribute to adaptation to high altitude, such factors remain largely unverified. Recent advances in high-throughput sequencing have made it feasible to analyze genome-wide patterns of genetic variation in human populations. Since traditionally such studies surveyed only a small fraction of the genome, interpretation of the results was limited.
resultsWe report here the results of the first whole genome resequencing-based analysis identifying genes that likely modulate high altitude adaptation in native Ethiopians residing at 3,500 m above sea level on Bale Plateau or Chennek field in Ethiopia. Using cross-population tests of selection, we identify regions with a significant loss of diversity, indicative of a selective sweep. We focus on a 208 kbp gene-rich region on chromosome 19, which is significant in both of the Ethiopian subpopulations sampled. This region contains eight protein-coding genes and spans 135 SNPs. To elucidate its potential role in hypoxia tolerance, we experimentally tested whether individual genes from the region affect hypoxia tolerance in Drosophila. Three genes significantly impact survival rates in low oxygen: cic, an ortholog of human CIC, Hsl, an ortholog of human LIPE, and Paf-AHα, an ortholog of human PAFAH1B3.
conclusionsOur study reveals evolutionarily conserved genes that modulate hypoxia tolerance. In addition, we show that many of our results would likely be unattainable using data from exome sequencing or microarray studies. This highlights the importance of whole genome sequencing for investigating adaptation by natural selection.
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