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

In Tibetans, noncoding alleles in EPAS1—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 disrup...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9683707/
https://www.ncbi.nlm.nih.gov/pubmed/36417539
http://dx.doi.org/10.1126/sciadv.ade1942