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Article

Tibetan PHD2, an allele with loss-of-function properties.

Proceedings of the National Academy of Sciences of the United States of America - 2 Jun 2020

Song Daisheng, Navalsky Bradleigh E, Guan Wei, Ingersoll Cassandra, Wang Tao, Loro Emanuele, Eeles Lydia, Matchett Kyle B, Percy Melanie J, Walsby-Tickle John, McCullagh James S O, Medina Reinhold J, Khurana Tejvir S, Bigham Abigail W, Lappin Terence R, Lee Frank S

Abstract excerpt

Tibetans have adapted to the chronic hypoxia of high altitude and display a distinctive suite of physiologic adaptations, including augmented hypoxic ventilatory response and resistance to pulmonary hypertension. Genome-wide studies have consistently identified compelling genetic signatures of natural selection in two genes of the Hypoxia Inducible Factor pathway, PHD2 and HIF2A The product of the former induces...

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Share to Adaptation, Physiological
Share to Altitude

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Basic Helix-Loop-Helix Transcription Factors

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Share to Hypoxia-Inducible Factor-Proline Dioxygenases

Share to Loss of Function Mutation

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Identifiers

PMID: 32414920
DOI: 10.1073/pnas.1920546117
PMCID: PMC7275716

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