ACTN3 genotype is associated with human elite athletic performance

American Journal of Human Genetics

Volumn 73, Issue 3, 2003, Pages 627-631

  Yang, Nan ^a   MacArthur, Daniel G ^a,b   Gulbin, Jason P ^c   Hahn, Allan G ^c   Beggs, Alan H ^d   Easteal, Simon ^c   North, Kathryn ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

^c Biology and Environment   (Australia)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; ALPHA ACTININ; ALPHA ACTININ 2; ALPHA ACTININ 3; UNCLASSIFIED DRUG;

ACTN3 GENE; ARTICLE; ATHLETE; CONTROLLED STUDY; ENDURANCE; FAST MUSCLE; FEMALE; FORCE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN EXPERIMENT; MALE; MUSCLE CONTRACTION; MUSCLE FIBRIL; NORMAL HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; R577X GENE; SKELETAL MUSCLE; STOP CODON; TASK PERFORMANCE; VELOCITY;

EID: 0041385595     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/377590     Document Type: Article

References (27)

1. Ardlie KG, Kruglyak L, Seielstad M (2002) Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 3:299-309
2. Blanchard A, Ohanian V, Critchley D (1989) The structure and function of α-actinin. J Muscle Res Cell Motil 10:280-289
3. Chowrashi P, Mittal B, Sanger JM, Sanger JW (2002) Amorphin is phosphorylase; phosphorylase is an alpha-actinin-binding protein. Cell Motil Cytoskeleton 53:125-135
4. Frey N, Olson EN (2002) Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem 277:13998-14004
5. Frey N, Richardson JA, Olson EN (2000) Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci USA 97:14632-14637
6. Friden J, Lieber RL (2001) Eccentric exercise-induced injuries to contractile and cytoskeletal muscle fiber components. Acta Physiol Scand 171:321-326
7. Garland T Jr, Bennett AF, Daniels CB (1990) Heritability of locomotor performance and its correlates in a natural population. Experientia 46:530-533
8. Gayagay G, Yu B, Hambly B, Boston T, Hahn A, Celermajer DS, Trent RJ (1998) Elite endurance athletes and the ACE I allele - the role of genes in athletic performance. Hum Genet 103:48-50
9. Gizak A, Rakus D, Dzugaj A (2003) Immunohistochemical localization of human fructose-1,6-bisphosphatase in subcellular structures of myocytes. Histol Histopathol 18:135-142
10. Huttley GA, Wilson SR (2000) Testing for concordant equilibria between population samples. Genetics 156:2127-2135
11. Kaplan NL, Hudson RR, Langley CH (1989) The "hitchhiking effect" revisited. Genetics 123:887-899
12. Mills M, Yang N, Weinberger R, vander Woude DL, Beggs AH, Easteal S, North K (2001) Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 10:1335-1346
13. Montgomery H, Marshall R, Hemingway H, Myerson S, Clarkson P, Dollery C, Hayward M, Holliman D, Jubb M, World M, Thomas E, Brynes A, Saeed N, Barnard M, Bell J, Prasad K, Rayson M, Talmud P, Humphries S (1998) Human gene for physical performance. Nature 393:221-222
14. Myerson S, Hemingway H, Budget R, Martin J, Humphries S, Montgomery H (1999) Human angiotensin I-converting enzyme gene and endurance performance. J Appl Physiol 87:1313-1316
15. Nazarov IB, Woods DR, Montgomery HE, Shneider OV, Kazakov VI, Tomilin NV, Rogozkin VA (2001) The angiotensin converting enzyme I/D polymorphism in Russian athletes. Eur J Hum Genet 9:797-801
16. North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH (1999) A common nonsense mutation results in α-actinin-3 deficiency in the general population. Nat Genet 21:353-354
17. Rankinen T, Perusse L, Raurama R, Rivera MA, Wolfarth B, Bouchard C (2002) The human gene map for performance and health-related fitness phenotypes: the 2001 update. Med Sci Sports Exerc 34:1219-1233
18. Rankinen T, Wolfarth B, Simoneau JA, Maier-Lenz D, Rauramaa R, Rivera MA, Boulay MR, Chagnon YC, Perusse L, Keul J, Bouchard C (2000) No association between the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status. J Appl Physiol 88:1571-1575
19. Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Layery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES (2001) Linkage disequilibrium in the human genome. Nature 411:199-204
20. Rieder MJ, Taylor SL, Clark AG, Nickerson DA (1999) Sequence variation in the human angiotensin converting enzyme. Nat Genet 22:59-62
21. Serrano AL, Murgia M, Pallafacchina G, Calabria E, Coniglio P, Lomo T, Schiaffino S (2001) Calcineurin controls nerve activity-dependent specification of slow skeletal muscle fibers but not muscle growth. Proc Natl Acad Sci USA 98:13108-13113
22. Shi GP, Bryant RAR, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA (2000) Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages. J Exp Med 191:1177-1186
23. Simoneau JA, Bouchard C (1995) Genetic determinism of fiber type proportion in human skeletal muscle. FASEB J 9:1091-1095
24. Taylor RR, Mamotte CDS, Fallon K, van Bockxmeer FM (1999) Elite athletes and the gene for angiotensin-converting enzyme. J Appl Physiol 87:1035-1037
25. Van Damme R, Wilson RS, Vanhooydonck B, Aerts P (2002) Performance constraints in decathletes. Nature 415:755-756
26. Wang B, Shi GP, Yao PM, Li Z, Chapman HA, Bromme D (1998) Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization. J Biol Chem 273:32000-32008
27. Woods D, Hickman M, Jamshidi Y, Brull D, Vassiliou V, Jones A, Humphries S, Montgomery H (2001) Elite swimmers and the D allele of the ACE I/D polymorphism. Hum Genet 108:230-232