Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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actinin alpha 3 (gene/pseudogene)(ACTN3) actinin alpha 3 (gene/pseudogene)(ACTN3) Related Genes Homo sapiens
CYTOBAND 11q13.1,
GENERIF_SUMMARY REIVIEW, ACTN3 is one of many genes contributing to genetic variation in muscle performance and adaptation to exercise., Data report the crystal structure of the actin binding domain of human muscle alpha-actinin-3, which is formed by two consecutive calponin homology domains arranged in a "closed" conformation., Subjects possessing the ACTN3-deficient genotype (XX) had lower baseline CK compared with the heterozygotes (P = 0.035)., We determined mitochondrial DNA (mtDNA) and ACTN3 genotypes in Finnish elite endurance (n = 52) and sprint (n = 89) athletes, and found that the frequencies of mtDNA haplogroups differed significantly between the two groups, In a study of adolescent Greeks there is a significant association between the ACTN3 R577X polymorphism and 40 m sprint time in males that accounts for phenotypic variance, with the 577R allele contributing to faster times in an additive manner., the ACTN3 R577X polymorphism influences the response of quadriceps muscle power to strength training in older adults, In women with McArdle's disease, ACTN3 genotypes might partly explain the large individual variability that exists in the phenotypic manifestation of this disorder, the R577X polymorphism within the ACTN3 gene was not associated with ultra-endurance performance in the 2000 and 2001 South African Ironman Triathlons, The mechanism by which the ACTN3 polymorphism has its effect on muscle power, relies on a control function of fiber type proportions., alpha-actinin-3 deficiency is not a major influence on performance in African athletes, results indicate that the ACTN3 R577X nonsense allele (X) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance, ACTN3 R577X polymorphism was associated with power athlete status in Russians., the shift towards more efficient aerobic muscle metabolism associated with alpha-actinin-3 deficiency also underlies the adaptive benefit of the 577X allele, in world-class cyclists, we only found an association between ACTN3 genotypes and ventilatory threshold and peak power output, and between ACTN3/ACE genotype combinations and respiratory compensation threshold, Knee extensor functional and contractile properties, including high-velocity strength, were not influenced by ACE and ACTN3 polymorphisms in a cohort of United Kingdom Caucasian males., actinin-3 participate in sequestering parafibromin in the cytoplasmic compartment, data suggest that alpha-actinin-3 deficiency may negatively influence sports performance in Russian endurance athletes., ACTN3 genotype is associated with muscle phenotypes in women across the adult age span., The authors observed that Opc-expressing bacteria interacted with a 100 kDa protein in whole-cell lysates of human endothelial and epithelial cells. The identity of the protein was established as alpha-actinin by mass spectrometry., The ACTN3 polymorphism may influence declines in certain measures of physical performance with aging but the influence of the ACTN3 R577X polymorphism does not appear to have a strong effect on skeletal muscle-related phenotypes., ACTN3 genotype may modulate responsiveness to exercise training., Association between the ACTN3 R577X polymorphism and artistic gymnastic performance in Italy is reported., the ACTN3 R allele is associated with top-level sprint performance and the X allele and XX genotypes may not be critical but rather additive to endurance performance, The main finding of our study was that the ACTN3 R577X polymorphism does not seem to influence the ability to produce peak (explosive) power in nonathletic, young adults of both genders., sprinter performance is determined by the interaction between the wild-type HIF1A Pro/Pro genotype and ACTN3 RR genotype, ACTN3 XX genotype is negatively associated with elite sprint athlete status, the underlying low frequency in these populations eliminates the possibility of replicating this association in Jamaican and US African American sprinters., data suggest that ACE ID/ ACTN3 R577X genotype combination is associated with sprint ability. However, ACE ID/ ACTN3 R577X genotype combination is not related to the level of performance, ACTN3 R/X polymorphisms were not associated with muscle function or muscularity phenotypes in older Caucasian men., We propose that the alteration in GPh activity in the absence of alpha-actinin-3 is a fundamental mechanistic link in the association between ACTN3 genotype and human performance., The researchers found no significant evidence that genetic polymorphisms, such as ACTN3, significantly influence muscle phenotypes in a group of nonagenarians., The results show that ACTN3 R577X polymorphism influences the size of the thigh muscles of older women., Study suggests a protective role of alpha-actinin-3 protein in muscle damage after eccentric training and an improved stress-sensor signaling, although effects are small., Examined the association of R577X polymorphism (rs1815739) in the alpha-actinin-3 (ACTN3) gene with "explosive" leg muscle power performance. Findings suggest that the ACTN3 R577X polymorphism does not influence explosive leg muscle power., The presence of alpha-actinin-3 protein is associated with improved sprint/power performance in athletes and the general population--REVIEW, Though the ACE I/D polymorphism is a strong candidate to modulate some exercise-related phenotypes, alone or in combination with the ACTN3 R577X polymorphism, does not seem to exert a major influence in the muscle power, as assessed during exercise tests., in recreationally active individuals, the ACTN3 R577X polymorphism is not associated with muscle performance phenotypes, supporting recent findings that R577X may only be important for predicting performance in elite athletes, In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males., results indicated that ACTN3 R577X polymorphism was associated with endurance performance in female athletes but not male athletes in China, functional ACTN3 R577X genotype represents a genetic risk factor for falling in older females., Examined the association between ACE I/D and ACTN3 R577X polymorphisms and muscle-related phenotypes and their adaptation to resistance training in older women. Results suggest these genetic variations may interact to determine muscle mass in older women., ACTN3 was found to have bimodal expression in human skeletal muscle tissue., the ACTN3 genotype of centenarians resembles that of world-class elite endurance athletes and differs from that of elite power athletes., the frequencies of ACTN3 577R allele were significantly higher in female international sprint swimmers than among national sprint swimmers or the general population, An association between ACTN3 R577X polymorphism and smaller thigh-muscle cross-sectional area in a group of elderly women but not in a group of middle-aged women., The ACTN3 R577X genotype is associated with sprint/power athletic status in Europeans, but does not appear to be associated with objective measures of physical capability in the general population., ACTN3 likely contributes to the regulation of bone mass through alterations in bone turnover., Professional soccer athletes homozygous to ACTN3XX gene are more susceptible to eccentric damage and present a higher catabolic state, demonstrated by metabolic, hormonal and immune responses post an eccentric training., ACTN3 R577X polymorphism is associated with preferred racing distance in speed skaters and muscle fibre type composition., The oxidative enzyme activity of fast muscle fibres was not associated with ACTN3 genotype, Lithuanian athletes who are carriers of the ACE I/I and I/D as well as ACTN3 X/X and R/X genotypes have the potential to achieve better results in power-requiring sports., ACE I/D and ACTN3 R577X polymorphisms are candidates to modulate exercise-related phenotypes in adults, our data suggest that they do not exert a major influence in the muscle phenotypes of old people., Relationships between ACTN3 genotypes and power or body composition-related phenotypes were not significant., The results indicated that the ACTN3 R577X polymorphism is most strongly associated with grip strength in young Chinese male soldiers. A strong association between the ACTN3 R577X genotypes and sprint or endurance phenotypes was not observed., relationships between polymorphisms of the ACE, ACTN3, PPARD, and PPARGC1A genes and performance as measured by six fitness tests in sedentary adolescent girls, data provide functional evidence that the primary sequences of alpha-actinin-2 and alpha-actinin-3 evolved differences to optimize their functions, the ACTN3 577X allele seemed to increase the risk of developing idiopathic inflammatory myopathies, although this was not related to severity of expression of the phenotype., An interaction of two polymorphisms (ACE and ACTN-3) might be able to discriminate quantitative traits crucial for the elite soccer performance, however the contribution of genetic factors to soccer performance is not so high., ACE I/D and ACTN3 R/X polymorphisms are likely factors in modulating exercise-related phenotypes in older women, particularly in response to a resistance training stimuli., The data indicated that ACTN3 polymorphisms were related to athletic performance in Japanese wrestlers., study compared impact of, and recovery from, muscle-damaging eccentric exercise on subjects with or without functional ACTN3 - homozygous for R or X alleles; ACTN3 genotype does not influence the observed repeated-bout effect; but XX homozygotes recover baseline voluntary torque values faster, Data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance., The ACTN3 R allele was associated with high results of performance tests., Our data suggest that the combination of ACTN3 and ACE gene polymorphisms is associated with the athletic status of Japanese elite wrestlers., ACTN3 alone does not influence endurance performance in triathletes., Genotype for ACTN3 is associated with contractile properties in human muscle fibers., ACTN3 p.R577X genotype was not significantly associated with swimmer status in these samples., The contribution of genetics to sports-related phenotype traits is undeniable with some genotypes, of which ACTN3 R577X is currently the leading candidate, partly distinguishing individuals predisposed to either endurance or power sports., results provide more solid evidence for the associations between ACE II genotype and endurance events and between ACTN3 R allele and power events, results suggest that environmental variables related to latitudinal variation, such as species richness and mean annual temperature, may have influenced the adaptive evolution of ACTN3 577XX during recent human history, We show that the ACTN3 R577X polymorphism is associated with human muscle volume and influences maximal isoinertial strength (1-RM) and maximum power (Wmax)., R577X polymorphism is not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls., Soccer players of genotype ACTN3/RR are the fastest in short distances and present higher jump potential. ACTN3/XX individuals presented the highest aerobic capacity., Report favourable allelic patterns of ACTN3 and CNTF genes on aerobic performance in athletes., Presently, the ACTN3 R577X polymorphism has provided the most consistent results, being the only muscle gene to show an elite power performance association across multiple athlete cohorts., ACTN3 R577X is associated with explosive muscle performance and this phenotype is important in the sport of basketball but the authors found no association with leg explosive power in elite basket players or with the status of being this type of athlete., ACTN3 R577X genotype is associated with sprint/power performance in elite Japanese track and fi eld athletes, especially short sprint performance., Alpinists show significantly higher frequencies of X allele compared to controls., A mechanistic explanation for the effects of the ACTN3 genotype on skeletal muscle performance in elite athletes, No significant differences of R577X polymorphism of ACTN3 gene were observed between the four ethnic groups employed in the Indian Army that requires high levels of physical fitness., ACTN3 R577X polymorphism is a candidate in the modulation of exercise-related gait speed phenotype in older women., These results suggest that the ACTN3 R allele is associated with the relative peak power during the Wingate anaerobic test in male Japanese collegiate athletes., erythropoietin (EPO T --> G) and alpha-actinin-3 (ACTN3 R577X) polymorphisms have roles in nutrigenomic effects on athletes' performance, specifically antioxidant supplementation based on pequi oil, The study showed that ACTN3 and ACE gene polymorphisms have an effect on muscle power., Glycogen utilization during sprint exercise varied across ACTN3 genotypes in type II fibers but not in type I fibers., R577X polymorphism in the ACTN3 gene was independently associated with worse survival in patients with chronic heart failure., These results suggest that factors associated with the ACTN3 XX genotype in canoe and kayak paddlers might provide some competitive advantage in performance at 1000 m, but it seems to limit at 200 m., ACTN3 577XX is overrepresented in skeletal Class II malocclusion; suggests biologic influence during bone growth. ACTN3 577XX is underrepresented in deepbite malocclusion; suggests muscle differences contribute to variations in vertical facial dimensions., 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., ACTN3 R577X polymorphism modulates VO2 of a homogeneous untrained population, by differentiating VO2rep and VO2peak in XX genotype carriers, who may display higher aerobic capacity., fatigue-resistant muscle fibers with leaky SR would contribute to non-shivering thermogenesis, providing a tentative explanation for the evolutionary advantage of carrying the ACTN3 577xx gene in a cold climate., changes in Ca2+ handling in the absence of alpha-actinin-3 are consistent with cold acclimatisation , and offer an additional explanation for the positive selection of the ACTN3 577X null allele in populations living in cold environments ., The ACTN3 R577X is associated with acute ankle sprains in this study., This suggests that the ACTN3 gene has a greater impact on determining dynamic movements than influencing static muscle strength., This study aimed at determining the influence of the ACTN3 R577X polymorphism on muscle strength and muscle endurance in non-athletic young men, Our results suggest that the ACTN3 R577X genotype is associated with lower-extremity muscle function in the Japanese population., Authors present a simple and cost-efficient method to genotype the ACTN3 r577x polymorphism by a single PCR., The present study provides novel findings associating the ACTN3 R577X polymorphism with physiological variables that are connected to endurance performance., The ACTN3 R577X polymorphism is associated with cardiometabolic fitness in healthy young adults., F-actin and cell-matrix adhesions differently affect membrane dynamics and cell migration., New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency.,
OMIM_DISEASE Alpha-actinin-3 deficiency, Sprinting performance,
SP_COMMENT function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., polymorphism:About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state., sequence caution:According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population., similarity:Belongs to the alpha-actinin family., similarity:Contains 1 actin-binding domain., similarity:Contains 2 CH (calponin-homology) domains., similarity:Contains 2 EF-hand domains., similarity:Contains 4 spectrin repeats., subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1., tissue specificity:Expressed only in a subset of type 2 skeletal muscle fibers.,