ArticleMolecular biology and evolution2013
Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.
Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers, 1 of them a synthesis that pooled it.
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Who cites it
125 citing papers in PubMed, 1 synthesis or guideline pooled it, 230 citations in OpenAlex.
- Combination of 247 Genome-Wide Association Studies Reveals High Cancer Risk as a Result of Evolutionary Adaptation.Molecular biology and evolution · 2018Pooled it
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Human adaptation to high-altitude: A contemporary comparison of the oxygen cascade in Andean, Tibetan and Ethiopian highlanders.Experimental physiology · 2026Review
- Unveiling key pathways and potential biomarkers for high-altitude hypertension: a pilot multi-omics study.Scientific reports · 2026Article
- Northeast india: genetic inconsistency across ethnicity and geography.Molecular genetics and genomics : MGG · 2026Article
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases.Human genomics · 2025Review
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- Deep learning reveals diverging effects of altitude on aging.GeroScience · 2025Article
- The Precision and Power of Population Branch Statistics in Identifying the Genomic Signatures of Local Adaptation.Genome biology and evolution · 2025Article
- Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin.Nature communications · 2025Article
- Chasing genes at high-altitude.Experimental physiology · 2025Article
- Genomic insights into Yanbian cattle: Breed-specific selective sweeps identified by whole-genome sequencing.PloS one · 2025Article
- Physiological and Genetic Basis of High-Altitude Indigenous Animals' Adaptation to Hypoxic Environments.Animals : an open access journal from MDPI · 2024Review
- Network modeling links kidney developmental programs and the cancer type-specificity of VHL mutations.NPJ systems biology and applications · 2024Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- Whole-genome sequencing reveals genomic diversity and selection signatures in Xia'nan cattle.BMC genomics · 2024Article
- Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.Nature communications · 2024Article
- Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.The Science of the total environment · 2024Article
65 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 9 institutions in 6 countries.
Funding
Abstract
The Tibetan and Andean Plateaus and Ethiopian highlands are the largest regions to have long-term high-altitude residents. Such populations are exposed to lower barometric pressures and hence atmospheric partial pressures of oxygen. Such "hypobaric hypoxia" may limit physical functional capacity, reproductive health, and even survival. As such, selection of genetic variants advantageous to hypoxic adaptation is likely to have occurred. Identifying signatures of such selection is likely to help understanding of hypoxic adaptive processes. Here, we seek evidence of such positive selection using five Ethiopian populations, three of which are from high-altitude areas in Ethiopia. As these populations may have been recipients of Eurasian gene flow, we correct for this admixture. Using single-nucleotide polymorphism genotype data from multiple populations, we find the strongest signal of selection in BHLHE41 (also known as DEC2 or SHARP1). Remarkably, a major role of this gene is regulation of the same hypoxia response pathway on which selection has most strikingly been observed in both Tibetan and Andean populations. Because it is also an important player in the circadian rhythm pathway, BHLHE41 might also provide insights into the mechanisms underlying the recognized impacts of hypoxia on the circadian clock. These results support the view that Ethiopian, Andean, and Tibetan populations living at high altitude have adapted to hypoxia differently, with convergent evolution affecting different genes from the same pathway.
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