Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population.

ABSTRACT:

Background

Ability of athletes in speed or endurance contests somehow is determined by inherited muscle fiber types. One of the important genes involved in sport genetics is ACTN3 that is located on chromosome 11q13-q14 and encodes α-actinin-3, which belongs to highly conserved family of α-actinin proteins. Genetic analysis of α-actinin-3 gene has showed a polymorphism R577X (rs1815739), which results in premature stop codon and leads to non functional α-actnin-3 protein. ACTN3 genotype can contribute to the performance in elite and endurance activities. R577X polymorphism replaces arginine by stop codon. Individuals homozygous for R577 have full copy of α-actinin-3 and elite and power sprint athletes show significantly higher frequency of 577R allele. In the other hand, some studi

SUBMITTER: Fattahi Z 

PROVIDER: S-EPMC3518978 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature