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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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2021
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Article
Accés en línia: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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