Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
ACTN3
cold adaptation
loss of function mutations
positive selection
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
05 05 2022
05 05 2022
Historique:
received:
02
08
2021
accepted:
18
03
2022
pubmed:
7
5
2022
medline:
11
5
2022
entrez:
6
5
2022
Statut:
ppublish
Résumé
The common loss-of-function mutation R577X in the structural muscle protein ACTN3 emerged as a potential target of positive selection from early studies and has been the focus of insightful physiological work suggesting a significant impact on muscle metabolism. Adaptation to cold climates has been proposed as a key adaptive mechanism explaining its global allele frequency patterns. Here, we re-examine this hypothesis analyzing modern (n = 3,626) and ancient (n = 1,651) genomic data by using allele-frequency as well as haplotype homozygosity-based methods. The presented results are more consistent with genetic drift rather than selection in cold climates as the main driver of the ACTN3 R577X frequency distribution in human populations across the world. This Matters Arising paper is in response to Wyckelsma et al. (2021),
Identifiants
pubmed: 35523147
pii: S0002-9297(22)00110-0
doi: 10.1016/j.ajhg.2022.03.014
pmc: PMC9118108
pii:
doi:
Substances chimiques
ACTN3 protein, human
0
Actinin
11003-00-2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
967-972Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.
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