Article

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

2020-10-03

Abstract excerpt

<h4>ABSTRACT</h4> The fast skeletal muscle protein α-actinin-3 is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in the ACTN3 gene (R577X) 1 . The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actinin-3 deficiency and improved cold tolerance 1,2 . Here, we show that humans lacking α-actinin-3 (XX) are super...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f8141d1c-bb36-5ca2-9975-479cee6369cc
DOI: 10.1101/2020.10.03.323964

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generationDOI 10.1101/2020.10.03.323964Read

alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.Semantic proximity Read

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and diseaseSemantic proximity Read

Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human EvolutionSemantic proximity Read

R577X polymorphism of alpha-actinin-3 in human populations of North-Eastern AsiaSemantic proximity Read

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.Semantic proximity Read

An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performanceSemantic proximity Read

A Gene for Speed: The Emerging Role of α-Actinin-3 in Muscle MetabolismSemantic proximity Read

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.Semantic proximity Read

ACTN3: A genetic influence on muscle function and athletic performance.Semantic proximity Read

alpha-actinin-3 and performance.Semantic proximity Read

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.Semantic proximity Read

A “human knockout” model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptationsSemantic proximity Read