A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans

• Published in: Science advances Vol. 8; no. 47; p. eade1942
• Main Authors: Gray, Olivia A, Yoo, Jennifer, Sobreira, Débora R, Jousma, Jordan, Witonsky, David, Sakabe, Noboru J, Peng, Ying-Jie, Prabhakar, Nanduri R, Fang, Yun, Nobréga, Marcelo A, Di Rienzo, Anna
• Format: Journal Article
• Language: English
• Published: United States American Association for the Advancement of Science 25.11.2022
• Subjects: Biomedicine and Life Sciences; Genetics; SciAdv r-articles

In Tibetans, noncoding alleles in -whose protein product hypoxia-inducible factor 2α (HIF-2α) drives the response to hypoxia-carry strong signatures of positive selection; however, their functional mechanism has not been systematically examined. Here, we report that high-altitude alleles disrupt the...