Article
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
Nature genetics - 1 Oct 2007
MacArthur Daniel G, Seto Jane T, Raftery Joanna M, Quinlan Kate G, Huttley Gavin A, Hook Jeff W, Lemckert Frances A, Kee Anthony J, Edwards Michael R, Berman Yemima, Hardeman Edna C, Gunning Peter W, Easteal Simon, Yang Nan, North Kathryn N
Abstract excerpt
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associated with elite athlete status and human muscle performance, suggesting that alpha-actinin-3 deficiency influences the function of fast muscle fibers. Here we...
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