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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008486/
https://www.ncbi.nlm.nih.gov/pubmed/33600773
http://dx.doi.org/10.1016/j.ajhg.2021.01.013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008486/
https://www.ncbi.nlm.nih.gov/pubmed/33600773
http://dx.doi.org/10.1016/j.ajhg.2021.01.013

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