Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X). The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actini...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Wyckelsma, Victoria L., Venckunas, Tomas, Houweling, Peter J., Schlittler, Maja, Lauschke, Volker M., Tiong, Chrystal F., Wood, Harrison D., Ivarsson, Niklas, Paulauskas, Henrikas, Eimantas, Nerijus, Andersson, Daniel C., North, Kathryn N., Brazaitis, Marius, Westerblad, Håkan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8008486/
https://ncbi.nlm.nih.gov/pubmed/33600773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.01.013
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