ACTN3 allele frequency in humans covaries with global latitudinal gradient.

A premature stop codon in ACTN3 resulting in α-actinin-3 deficiency (the ACTN3 577XX genotype) is common in humans and reduces strength, muscle mass, and fast-twitch fiber diameter, but increases the metabolic efficiency of skeletal muscle. Linkage disequilibrium data suggest that the ACTN3 R577X al...

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Autores principales:	Scott M Friedlander, Amanda L Herrmann, Daniel P Lowry, Emily R Mepham, Monkol Lek, Kathryn N North, Chris L Organ
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/207bcab96376445091b065af3f3ae061
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spelling	oai:doaj.org-article:207bcab96376445091b065af3f3ae0612021-11-18T08:00:10ZACTN3 allele frequency in humans covaries with global latitudinal gradient.1932-620310.1371/journal.pone.0052282https://doaj.org/article/207bcab96376445091b065af3f3ae0612013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23359641/?tool=EBIhttps://doaj.org/toc/1932-6203A premature stop codon in ACTN3 resulting in α-actinin-3 deficiency (the ACTN3 577XX genotype) is common in humans and reduces strength, muscle mass, and fast-twitch fiber diameter, but increases the metabolic efficiency of skeletal muscle. Linkage disequilibrium data suggest that the ACTN3 R577X allele has undergone positive selection during human evolution. The allele has been hypothesized to be adaptive in environments with scarce resources where efficient muscle metabolism would be selected. Here we test this hypothesis by using recently developed comparative methods that account for evolutionary relatedness and gene flow among populations. We find evidence that the ACTN3 577XX genotype evolved in association with the global latitudinal gradient. Our results suggest that environmental variables related to latitudinal variation, such as species richness and mean annual temperature, may have influenced the adaptive evolution of ACTN3 577XX during recent human history.Scott M FriedlanderAmanda L HerrmannDaniel P LowryEmily R MephamMonkol LekKathryn N NorthChris L OrganPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 1, p e52282 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Scott M Friedlander Amanda L Herrmann Daniel P Lowry Emily R Mepham Monkol Lek Kathryn N North Chris L Organ ACTN3 allele frequency in humans covaries with global latitudinal gradient.
description	A premature stop codon in ACTN3 resulting in α-actinin-3 deficiency (the ACTN3 577XX genotype) is common in humans and reduces strength, muscle mass, and fast-twitch fiber diameter, but increases the metabolic efficiency of skeletal muscle. Linkage disequilibrium data suggest that the ACTN3 R577X allele has undergone positive selection during human evolution. The allele has been hypothesized to be adaptive in environments with scarce resources where efficient muscle metabolism would be selected. Here we test this hypothesis by using recently developed comparative methods that account for evolutionary relatedness and gene flow among populations. We find evidence that the ACTN3 577XX genotype evolved in association with the global latitudinal gradient. Our results suggest that environmental variables related to latitudinal variation, such as species richness and mean annual temperature, may have influenced the adaptive evolution of ACTN3 577XX during recent human history.
format	article
author	Scott M Friedlander Amanda L Herrmann Daniel P Lowry Emily R Mepham Monkol Lek Kathryn N North Chris L Organ
author_facet	Scott M Friedlander Amanda L Herrmann Daniel P Lowry Emily R Mepham Monkol Lek Kathryn N North Chris L Organ
author_sort	Scott M Friedlander
title	ACTN3 allele frequency in humans covaries with global latitudinal gradient.
title_short	ACTN3 allele frequency in humans covaries with global latitudinal gradient.
title_full	ACTN3 allele frequency in humans covaries with global latitudinal gradient.
title_fullStr	ACTN3 allele frequency in humans covaries with global latitudinal gradient.
title_full_unstemmed	ACTN3 allele frequency in humans covaries with global latitudinal gradient.
title_sort	actn3 allele frequency in humans covaries with global latitudinal gradient.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/207bcab96376445091b065af3f3ae061
work_keys_str_mv	AT scottmfriedlander actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT amandalherrmann actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT danielplowry actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT emilyrmepham actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT monkollek actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT kathrynnnorth actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient AT chrislorgan actn3allelefrequencyinhumanscovarieswithgloballatitudinalgradient
_version_	1718422652981346304

ACTN3 allele frequency in humans covaries with global latitudinal gradient.

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