Concepedia

Relationship between ACTN3 R577X polymorphism and maximal power output in elite Polish athletes

Joanna Orysiak, Krzysztof Buśko, Radosław Michalski, Joanna Mazur–Różycka, Jan Gajewski, Jadwiga Malczewska‐Lenczowska, Dariusz Sitkowski, Andrzej Pokrywka

Medicina · 2014 · 52 citations · 26 references

DOIFull text

Open access

Abstract

These results suggest that the ACTN3 gene may play a significant role in determining muscle phenotypes. However, this gene is only one of many factors which could contribute to athletes' performance and muscle phenotypes.

References

26

ACTN3 Genotype Is Associated with Human Elite Athletic Performance

Nan Yang, Daniel G. MacArthur, Jason P. Gulbin et al. · The American Journal of Human Genetics · 2003 · 887 citations · Full text

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Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy

M.J. Mills · Human Molecular Genetics · 2001 · 397 citations

ACTN3 (R577X) genotype is associated with fiber type distribution

Barbara Vincent, Katrien De Bock, Monique Ramaekers et al. · Physiological Genomics · 2007 · 328 citations

, , +19

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Daniel G. MacArthur, Jane T. Seto, Joanna M. Raftery et al. · Nature Genetics · 2007 · 325 citations · Full text

, , +12

An Actn3 knockout mouse provides mechanistic insights into the association between  -actinin-3 deficiency and human athletic performance

Daniel G. MacArthur, Jane T. Seto, Stephen Chan et al. · Human Molecular Genetics · 2008 · 289 citations · Full text