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ACTN3 Genotype is Associated with Human Elite Athletic Performance

Yang, Nan; MacArthur, Daniel; Gulbin, Jason; Hahn, Allan G; Beggs, Alan H; Easteal, Simon; North, Kathryn

Description

There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein α-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X. α-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force...[Show more]

CollectionsANU Research Publications
Date published: 2003
Type: Journal article
URI: http://hdl.handle.net/1885/86170
Source: American Journal of Human Genetics
DOI: 10.1086/377590

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