How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3 , the ‘gene for speed’
نویسندگان
چکیده
منابع مشابه
Mechanistic insights into CIN gene function and malfunction
Correspondence to Jan M. van Deursen: [email protected] Abbreviations used in this paper: APC, anaphase-promoting complex; CIN, chromosomal instability; MVA, mosaic variegated aneuploidy; Rb, retinoblastoma; S-CIN, structural CIN; W-CIN, whole CIN. Introduction Aneuploidy refers to a state in which the number of chromosomes in a cell is not an exact multiple of the haploid set. Chromosoma...
متن کاملA Gene for Speed: The Emerging Role of -Actinin-3 in Muscle Metabolism
A common polymorphism (R577X) in the ACTN3 gene results in complete deficiency of -actinin-3 protein in 16% of humans worldwide. The presence of -actinin-3 protein is associated with improved sprint/power performance in athletes and the general population. Despite this, there is evidence that the null genotype XX has been acted on by recent positive selection, likely due to its emerging role in...
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The alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organisation and muscle contraction. alpha-actinin-3 is the most-highly specialised of the four mammalian alpha-actinins, with its expression restricted largely to fast glycolytic fibres in skeletal muscle. Intriguingly, a significant proportion ( approximately 18%) of th...
متن کاملAnalysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼ 18% of the global population. There is no associated disease phenotype, but α-actinin-3 deficiency is detrimental to sprint and power performance in both elite athletes and the general population. However, despite considerable investigation to date, the functional consequences of heterozygosity for ACTN3 are unclear....
متن کاملCorrection: Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution
Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the ACTN3 gene. α-Actinin-3 deficiency is detrimental to sprint performance in elite athletes and beneficial to endurance activities. In the human genome, it is very difficult to find single-gene loss-of-function variants that bear signatures of po...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
سال: 2016
ISSN: 0167-4889
DOI: 10.1016/j.bbamcr.2016.01.013