Genetic Evidence for High-Altitude Adaptation in Tibet

  title={Genetic Evidence for High-Altitude Adaptation in Tibet},
  author={Tatum S Simonson and Ying-zhong Yang and Chad D. Huff and Haixia Yun and Ga Qin and David J. Witherspoon and Zhen-zhong Bai and Felipe Ramos Lorenzo and Jinchuan Xing and Lynn B. Jorde and Josef T. Prchal and Rili Ge},
  pages={72 - 75}
Tibetans have lived at very high altitudes for thousands of years, and they have a distinctive suite of physiological traits that enable them to tolerate environmental hypoxia. [] Key Result Positively selected haplotypes of EGLN1 and PPARA were significantly associated with the decreased hemoglobin phenotype that is unique to this highland population. Identification of these genes provides support for previously hypothesized mechanisms of high-altitude adaptation and illuminates the complexity of hypoxia…
Genes for High Altitudes
Genes in the hypoxia-inducible factor (HIF) oxygen signaling pathway have been subject to strong and recent positive selection in Tibetan highlanders, revealing the genetic basis of high-altitude adaptation in Tibetans.
Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations
Data demonstrate that EDAR has undergone natural selection in recent human history and indicate an important role of EDAR variants in Tibetan high-altitude adaptations.
Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas.
Analysis of genome-wide sequence variations in Tibetans indicates strong signals of selective sweep in two hypoxia-related genes, EPAS1 and EGLN1, and suggests that during the long-term occupation of high-altitude areas, the functional sequence variations for acquiring biological adaptation to high-Altitude Hypoxia have been enriched in Tibetan populations.
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Genetic studies of Tibetans, an ethnic group with a long-lasting presence on the Tibetan Plateau which is known as the highest plateau in the world, may offer a unique opportunity to understand the
Genetics of Adaptation to High Altitude
Genome-wide search for adaptive genes in the three paradigmal highland populations identified largely distinct patterns in each population, but converging towards the hypoxia-inducible transcription factors (HIF) pathway.
A genome wide study of genetic adaptation to high altitude in feral Andean Horses of the páramo
It becomes apparent that some gene pathways, such as the HIF pathway are universally important for high altitude adaptation in mammals, but several others may be selected upon based on the natural history of a species and the unique ecology of the altitude environment.
Genetic adaptation to high altitude in the Ethiopian highlands
The combined results suggest that adaptation to high altitude arose independently due to convergent evolution in high-altitude Amhara populations in Ethiopia, including CBARA1, VAV3, ARNT2 and THRB.
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    Quaternary international : the journal of the International Union for Quaternary Research
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A Novel Candidate Region for Genetic Adaptation to High Altitude in Andean Populations
The results suggest that positive selection on the enhancer might increase the expression of this antioxidant, and thereby prevent oxidative damage, in high-altitude populations of Andean natives.
The Genetic Architecture of Adaptations to High Altitude in Ethiopia
Genetic analysis to two Ethiopian ethnic groups found that variants associated with hemoglobin variation among Tibetans or other variants at the same loci do not influence the trait in Ethiopians, but a significant excess of allele frequency divergence was consistently detected for genes involved in cell cycle control and DNA damage and repair, thus pointing to new pathways for high altitude adaptations.


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Evidence is presented that Tibetan and Andean high-altitude natives have adapted differently, as indicated by large quantitative differences in numerous physiological traits comprising the oxygen delivery process, suggesting the hypothesis that evolutionary processes have tinkered differently on the two founding populations and their descendents.
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It is postulate that the ancient people, who lived in the upper-middle Yellow River basin about 10,000 years ago and developed one of the earliest Neolithic cultures in East Asia, were the ancestors of modern Sino-Tibetan populations.
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A set of SNPs is developed that can be used to tag the strongest ∼250 signals of recent selection in each population, and it is found that by some measures the authors' strongest signals of selection are from the Yoruba population.
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The experience with CMS has shown that an excessively high hemoglobin concentration is not favorable for high altitude acclimatization, and the hypothesis of theoretically "optimal" hematocrit and "optical" hemoglobin has been made.
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