Literature DB >> 17211191

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

Daniel G MacArthur1, Kathryn N North.   

Abstract

A common variant of the ACTN3 gene, R577X, results in complete deficiency of the alpha-actinin-3 protein in the fast skeletal muscle fibers of more than a billion humans worldwide. We review the evidence that this genetic variant is strongly associated with elite athlete status and with normal variation in human muscle strength and sprinting speed.

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Year:  2007        PMID： 17211191     DOI： 10.1097/JES.0b013e31802d8874

Source DB:  PubMed          Journal:  Exerc Sport Sci Rev        ISSN： 0091-6331            Impact factor:   6.230


  33 in total

Review 1.  The quantification of training load, the training response and the effect on performance.

Authors:  Jill Borresen; Michael Ian Lambert
Journal:  Sports Med       Date:  2009       Impact factor: 11.136

Review 2.  Genes and elite athletes: a roadmap for future research.

Authors:  Nir Eynon; Jonatan R Ruiz; José Oliveira; José Alberto Duarte; Ruth Birk; Alejandro Lucia
Journal:  J Physiol       Date:  2011-05-03       Impact factor: 5.182

Review 3.  The Genetics of Physical Activity.

Authors:  Xiaochen Lin; Charles B Eaton; JoAnn E Manson; Simin Liu
Journal:  Curr Cardiol Rep       Date:  2017-10-18       Impact factor: 2.931

4.  Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Authors:  Marshall W Hogarth; Fleur C Garton; Peter J Houweling; Taru Tukiainen; Monkol Lek; Daniel G Macarthur; Jane T Seto; Kate G R Quinlan; Nan Yang; Stewart I Head; Kathryn N North
Journal:  Hum Mol Genet       Date:  2015-12-17       Impact factor: 6.150

5.  The ACTN3 genotype in soccer players in response to acute eccentric training.

Authors:  Eduardo Mendonça Pimenta; Daniel Barbosa Coelho; Izinara Rosse Cruz; Rodrigo Figueiredo Morandi; Christiano Eduardo Veneroso; Guilherme de Azambuja Pussieldi; Maria Raquel Santos Carvalho; Emerson Silami-Garcia; José Antonio De Paz Fernández
Journal:  Eur J Appl Physiol       Date:  2011-08-13       Impact factor: 3.078

Review 6.  Loss-of-function variants in the genomes of healthy humans.

Authors:  Daniel G MacArthur; Chris Tyler-Smith
Journal:  Hum Mol Genet       Date:  2010-08-30       Impact factor: 6.150

7.  The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes.

Authors:  Ildus I Ahmetov; Alun G Williams; Daniil V Popov; Ekaterina V Lyubaeva; Albina M Hakimullina; Olga N Fedotovskaya; Irina A Mozhayskaya; Olga L Vinogradova; Irina V Astratenkova; Hugh E Montgomery; Viktor A Rogozkin
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132

8.  ACTN3 R577X Polymorphism and Neuromuscular Response to Resistance Training.

Authors:  Paulo Gentil; Rinaldo W Pereira; Tailce K M Leite; Martim Bottaro
Journal:  J Sports Sci Med       Date:  2011-06-01       Impact factor: 2.988

9.  The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.

Authors:  Stephen M Roth; Sean Walsh; Dongmei Liu; E Jeffrey Metter; Luigi Ferrucci; Ben F Hurley
Journal:  Eur J Hum Genet       Date:  2007-11-28       Impact factor: 4.246

10.  Masticatory Functional Load Increases the mRNA Expression Levels of ACTN2 and ACTN3 and the Protein Expression of α-Actinin-2 in Rat Masseter Muscle.

Authors:  Nur Masita Silviana; Sri Andarini; Diana Lyrawati; Mohammad Hidayat
Journal:  Turk J Pharm Sci       Date:  2021-02-25
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