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Review
. 2016 Dec:41:8-13.
doi: 10.1016/j.gde.2016.06.018. Epub 2016 Aug 6.

Genetics of human origin and evolution: high-altitude adaptations

Abigail W Bigham  1
Affiliations
Review

Genetics of human origin and evolution: high-altitude adaptations

Abigail W Bigham. Curr Opin Genet Dev. 2016 Dec.

Abstract

High altitude, defined as elevations lying above 2500m sea level, challenges human survival and reproduction. This environment provides a natural experimental design wherein specific populations, Andeans, Ethiopians, and Tibetans, have lived in a chronic hypoxia state for millennia. These human groups have overcome the low ambient oxygen tension of high elevation via unique physiologic and genetic adaptations. Genomic studies have identified several genes that underlie high-altitude adaptive phenotypes, many of which are central components of the Hypoxia Inducible Factor (HIF) pathway. Further study of mechanisms governing the adaptive changes responsible for high-altitude adaptation will contribute to our understanding of the molecular basis of evolutionary change and assist in the functional annotation of the human genome.

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Figures

Figure 1
Figure 1. HIF pathway candidate genes for human adaptation to high altitude
The three geographic regions where humans have adapted to high altitude are highlighted in blue and include the Andean Altiplano, Semien Plateau, and the Tibetan Plateau. HIF pathway candidate genes for each population are listed in each of the population boxes. Genes listed in black are unique to the particular population, blue are shared between all three, green are shared between Tibetan and Andean, red are shared between Andean and Ethiopian, and purple are shared between Tibetan and Ethiopian.
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References

    1. Bigham AW, Lee FS. Human high-altitude adaptation: forward genetics meets the HIF pathway. Genes Dev. 2014;28:2189–2204. - PMC - PubMed
    1. Simonson TS, McClain DA, Jorde LB, Prchal JT. Genetic determinants of Tibetan high-altitude adaptation. Human genetics. 2012;131:527–533. - PubMed
    1. Beall CM. Genetic changes in Tibet. High Altitude Medicine & Biology. 2011;12:101–102. - PubMed
    1. Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, Pool JE, Xu X, Jiang H, Vinckenbosch N, Korneliussen TS, et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science. 2010;329:75–78. - PMC - PubMed
    1. Bigham A, Bauchet M, Pinto D, Mao X, Akey JM, Mei R, Scherer SW, Julian CG, Wilson MJ, Lopez Herraez D, et al. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS genetics. 2010:6. - PMC - PubMed

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