ArticlePloS one2015
Differing evolutionary histories of the ACTN3*R577X polymorphism among the major human geographic groups.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Alpha-Actinin-3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Genetic affinities between the ancient Greek colony of Amvrakia and its metropolis.Genome biology · 2026Article
- Association of theGenes · 2023Article
- Genotype Distribution of theGenes · 2022Article
- Response to Mörseburg et al.American journal of human genetics · 2022Article
- Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.American journal of human genetics · 2022Article
- Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.American journal of human genetics · 2021Article
- Article
- More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries.European journal of applied physiology · 2019Review
- Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers.Sports medicine - open · 2017Article
- Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.Human molecular genetics · 2016Article
- Article
- The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.PloS one · 2015Article
- The role of natural selection in human evolution - insights from Latin America.Genetics and molecular biologyArticle
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic diversity, in order to assess the action of adaptive and random mechanisms on its variation across human geographical distribution. The derived 577X allele increases in frequency with distance from Africa, reaching the highest frequencies on the American continent. Positive selection, detected by an extended haplotype homozygosisty test, was consistent only with the Eurasian data, but simulations with neutral models could not fully explain the results found in the American continent. It is possible that particularities of Native American population structure could be responsible for the observed allele frequencies, which would have resulted from a complex interaction between selective and random factors.
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