Article
High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele.
Molecular biology and evolution - 5 Jul 2023
Jorgensen Kelsey, Song Daisheng, Weinstein Julien, Garcia Obed A, Pearson Laurel N, Inclán María, Rivera-Chira Maria, León-Velarde Fabiola, Kiyamu Melisa, Brutsaert Tom D, Bigham Abigail W, Lee Frank S
Abstract excerpt
For over 10,000 years, Andeans have resided at high altitude where the partial pressure of oxygen challenges human survival. Recent studies have provided evidence for positive selection acting in Andeans on the HIF2A (also known as EPAS1) locus, which encodes for a central transcription factor of the hypoxia-inducible factor pathway. However, the precise mechanism by which this allele might lead to...
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