Skeletal muscle is extremely adaptable to various stresses which can be placed upon it. In spite of importance of skeletal muscles, little is known about genetic factors which demonstrate high influence to muscle size, function, strength and adaptation to various environmental factors. Because endurance performance is a multifactorial trait, the list of candidate genes which could account for human variation in related phenotypes is extensive. One of the first characterized and most frequently studied genetic variant is a polymorphism in the angiotensin converting enzyme I gene. The ACTN3 gene is the first structural skeletal muscle gene with a relation between its genotype and elite sprinterí performance. Nevertheless, current genetic testing cannot provide an extra advantage over existing testing methods in determining sports selection in young athletes. The main challenge still remains to identify other, complex polygenetic variants and their interactions with environmental factors which could provide benefit in the sports selection and existing talent identification.
Barley, J., A., B., & N, C. (n.d.). Angiotensin-converting enzyme insertion/deletion polymorphism: association with ethnic origin. Journal of Hypertension, 12, 955–957.
Baudin, B. (n.d.). New aspects on angiotensin-converting enzyme: from gene to disease. Clinical Chemistry Laboratory Medicine, 40, 256–265.
Beggs, A. H., Byers, T. J., & Knoll, J. H. (n.d.). Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. The Journal of Biological Chemistry, 267, 9281–9288.
Blanchard, A., Ohanian, V., & Critchley, D. (n.d.). The structure and function of alpha-actinin. Journal of Muscle Research and Cell Motility, 10, 280–289.
Bouchard, C., Bray, M. S., Hagberg, J. M., Perusse, L., Rankinen, T., & Roth, S. M. (n.d.). The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update. Medicine & Science in Sports & Exercise, 34–63.
Calvo, M., Rodas, G., Vallejo, M., Estruch, A., Arcas, A., & Javierre, C. (n.d.). Heritability of explosive power and anaerobic capacity in humans. European Journal of Applied Physiology, 86, 218–225.
Danser, A. H., Schalekamp, M. A., Bax, W. A., Saxena, P. R., Riegger, G. A., & Schunkert, H. (n.d.). Angiotensin-converting enzyme in the human heart. Effect of the Deletion/Insertion Polymorphism. Circulation, 92, 1387–1388.
Dixson, J. D., Forstner, M. J., & Garcia, D. M. (n.d.). The alpha-actinin gene family: a revised classification. Journal of Molecular Evolution, 56, 1–10.
Frederiksen, H., Bathum, L., Worm, C., Christensen, K., & Puggaard, L. (n.d.). ACE genotype and physical training effects: a randomized study among elderly Danes. Aging Clinical and Experimental Research, 15, 284–291.
Hagberg, J. M., Ferrell, R. E., McCole, S. D., Wilund, K. R., & Moore, G. E. (n.d.). VO,max is associated with ACE genotype in postmenopausal women. Journal of Applied Physiology, 85, 1842–1846.
Hamel, P., Simoneau, J. A., Lortie, G., Boulay, M. R., & Bouchard, C. (n.d.). Heredity and muscle adaptation to endurance training. Medicine & Science in Sports & Exercise, 18, 690–696.
MacArthur, D. G., & North, K. N. (n.d.-a). Genes and elite athletes.
MacArthur, D. G., & North, K. N. (n.d.-b). Genes and human elite athletic performance. Human Genetics, 116, 331–339.
Mills, M., Yang, N., & Weinberger, R. (n.d.). Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Geneties, 10, 1335–1346.
Montgomery, H. E., Clarkson, P., & Barnard, M. (n.d.). Angiotensin-converting enzyme gene insertion/deletion polymorphism and response to physical training. Lancet, 353, 541–545.
Montgomery, H. E., Marshall, R., Hemingway, H., Myerson, S., Clarkson, P., & Dollery, C. (n.d.). Human gene for physical performance. Nature, 393, 221–222.
Myerson, S., Hemingway, S., Martin, J., Humphries, S., & Montgomery, S. (n.d.). Human angiotensin I-converting enzyme gene and endurance performance. Journal of Applied Physiology, 87, 1313–1316.
Nanth, M., MacArthur, D. G., Seto, J. T., & Raftery, J. M. (n.d.). Ex e Sp AScine A ge, is nience on muscle function and. Nature Genetics, 39, 1261–1265.
Niemi, A., & Majamaa, K. (n.d.). Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. European Journal of Human Genetics, 13, 797–801.
North, K. N., Yang, N., & Wattanasirichaigoon, D. (n.d.). A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics, 21, 353–354.
Pescatello, L. S., Kostek, M. A., Gordish-Dressman, H., Thompson, P. D., Seip, R. L., & Price, T. B. (n.d.). ACE ID genotype and the muscle strength and size response to unilateral resistance training. Medicine & Science in Sports & Exercise.
Rankinen, T., Perusse, L., Gagnon, J., Chagnon, Y. C., Leon, A. S., Skinner, J. S., & Wilmore, J. H. (n.d.). Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study. Journal of Applied Physiology, 88, 1029–1035.
Rankinen, T., Wolfarth, B., Simoneau, J. A., Maier-Lenz, D., Rauramaa, R., & Rivera, M. A. (n.d.). No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status. Journal of Applied Physiology, 88, 1571–1575.
Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P., & Soubrier, F. (n.d.). An insertion/deletion polymorphism in the angiotensin-converting enzyme gene accounting for half the variance of serum enzyme levels. Journal of Clinical Investigtion, 86, 1343–1346.
Simoneau, J. A., & Bouchard, C. (n.d.). Genetic determinism of fiber type proportion in human skeletal muscle. Faseb Journal, 9, 1091–1095.
Virel, A., & Backman, L. (n.d.). Molecular evolution and structure of alpha-actinin. Molecular Biology and Evolution, 21, 1024–1031.
Williams, A. G., Day, S. H., Folland, J. P., Gohlke, P., Dhanrait, S., & Montgomery, H. E. (n.d.). Circulating angiotensin converting enzyme activity is correlated with muscle strength. Medicine & Science in Sports & Exercise, 37, 944–948.
Williams, A. G., Dhamrait, S. S., & Wootton, P. T. E. (n.d.). Bradykinin receptor gene variant and human physical performance. Journal of Applied Physiology, 96, 938–942.
Woods, D., Hickman, M., Jamshidi, Y., Brull, D., Vassiliou, V., & Jones, A. (n.d.). Elite swimmers and the D allele of the ACE I/D polymorphism. Human Genetics, 108, 230–232.
Yang, N., MacArthur, D. G., Gulbin, J. P., Hahn, A. G., Beggs, A. H., & Easteal, S. (n.d.). ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics, 73, 627–631.
Zhang, B., Tanaka, H., Shono, N., Miura, S., Kiyonaga, A., & Shindo, M. (n.d.). The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle. Clinical Genetics, 63, 139–144.
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