The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance
Abstract
A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein alpha-actinin-3 in an estimated one billion humans worldwide. The XX null genotype is under-represented in elite sprint athletes, associated with reduced muscle strength and sprint performance in non-athletes, and is over-represented in endurance athletes, suggesting that alpha-actinin-3 deficiency increases muscle endurance at the cost of power generation. Here we report that muscle from Actn3 knockout mice displays reduced force generation, consistent with results from human association studies. Detailed analysis of knockout mouse muscle reveals reduced fast fiber diameter, increased activity of multiple enzymes in the aerobic metabolic pathway, altered contractile properties, and enhanced recovery from fatigue, suggesting a shift in the properties of fast fibers towards those characteristic of slow fibers. These findings provide the first mechanistic explanation for the reported associations between R577X and human athletic performance and muscle function.
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Cites
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ACTN3 Genotype Is Associated with Human Elite Athletic Performance
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Self-citationExcess Lipid Availability Increases Mitochondrial Fatty Acid Oxidative Capacity in Muscle
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Self-citationA common nonsense mutation results in α-actinin-3 deficiency in the general population
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Self-citationMills, M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.13.1335 · Cited by 395
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes
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Genetic and cell biological analysis of integrin outside-in signaling
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The Relationship Between Deliberate Practice and Performance in Sports: A Meta-Analysis
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Self-citationGene Polymorphisms and Fiber-Type Composition of Human Skeletal Muscle
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ACTN3 R577X polymorphism is not associated with team sport athletic status in Italians
Massidda, M., Bachis, V., Corrias, L., Piras, F., Scorcu, M., Culigioni, C., Masala, D., & Calò, C. M. (2015) · Sports Medicine - Open · doi:10.1186/s40798-015-0008-x · Cited by 57
Metadata
- Authors
- MacArthur, D. G., Seto, J. T., Chan, S., Quinlan, K. G. R., Raftery, J. M., Turner, N., Nicholson, M. D., Kee, A. J., Hardeman, E. C., Gunning, P. W., Cooney, G. J., Head, S. I., Yang, N., & North, K. N.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-01-04
- Volume
- 17
- Issue
- 8
- Pages
- 1076-1086
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2114603492
- Cited by
- 287
- References
- 26
- FWCI
- 10.90
- Type
- journal article
- Language
- en
- Open access
- closed
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- MacArthur, D. G., Seto, J. T., Chan, S., Quinlan, K. G. R., Raftery, J. M., Turner, N., Nicholson, M. D., Kee, A. J., Hardeman, E. C., Gunning, P. W., Cooney, G. J., Head, S. I., Yang, N., & North, K. N. (2008). An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddm380
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