A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs.
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs.
复制标题
DOI：
10.1371/journal.pgen.0030079
复制
发表时间：
2007-05-25
期刊：
影响因子：
4.5
通讯作者：
Ostrander EA
中科院分区：
文献类型：
--
作者：
Mosher DS;Quignon P;Bustamante CD;Sutter NB;Mellersh CS;Parker HG;Ostrander EA
双肌是先前在包括牛和羊在内的几种哺乳动物物种中描述的特征，并且是由肌生长抑制素（MSTs）基因（先前称为GDF 8）中的突变引起的。在这里，我们描述了一个新的突变，在麦考发现的whippet狗品种，结果在一个双肌肉的表型被称为“欺负”whippet。具有这种表型的个体在MSTs的第三外显子中携带两个拷贝的两个碱基对缺失，导致在氨基酸313处的提前终止密码子。平均而言，仅携带一个突变拷贝的个体比野生型个体肌肉更发达（p = 7.43 × 10−6; Kruskal-Wallis检验），并且在竞技比赛中比携带野生型基因型的个体明显更快（肯德尔非参数测量，τ = 0.3619; p = 0.00028）。这些结果突出了提高运动成绩的多态性的效用，标志着MMP 3基因的突变第一次被定量地与运动成绩的提高联系起来。一个人的基因图谱可以在定义他们的自然技能和天赋方面发挥作用。犬科动物提供了一个很好的系统来寻找这种关联基因。纯种狗有着悠久的选育历史，培育出了具有非凡力量、智力和速度的特定品种。我们已经发现了犬肌肉生长抑制素基因的突变，这是一种肌肉质量的负调节因子，会影响肌肉的组成，从而影响whippet的比赛速度。拥有这种突变的狗比正常的狗肌肉更发达，是竞争性比赛中最快的狗之一。然而，具有两个相同突变拷贝的狗肌肉过度发达，表面上类似于已知具有类似突变的双肌肉牛。这一结果首次定量地将肌肉生长抑制素基因的突变与运动表现联系起来。此外，它强调了什么是肯定是一个日益增长的研究领域，提高性能的多态性在竞技体育。未来的意义包括在优秀运动员中筛查肌肉生长抑制素突变。然而，由于对肌肉生长抑制素突变携带者的健康问题和潜在风险知之甚少，在这个竞技场的研究应该非常谨慎。
Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe a new mutation in MSTN found in the whippet dog breed that results in a double-muscled phenotype known as the “bully” whippet. Individuals with this phenotype carry two copies of a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313. Individuals carrying only one copy of the mutation are, on average, more muscular than wild-type individuals (p = 7.43 × 10−6; Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild-type genotype in competitive racing events (Kendall's nonparametric measure, τ = 0.3619; p ≈ 0.00028). These results highlight the utility of performance-enhancing polymorphisms, marking the first time a mutation in MSTN has been quantitatively linked to increased athletic performance. An individual's genetic profile can play a role in defining their natural skills and talents. The canine species presents an excellent system in which to find such associative genes. The purebred dog has a long history of selective breeding, which has produced specific breeds of extraordinary strength, intelligence, and speed. We have discovered a mutation in the canine myostatin gene, a negative regulator of muscle mass, which affects muscle composition, and hence racing speed, in whippets. Dogs that possess a single copy of this mutation are more muscled than normal and are among the fastest dogs in competitive racing events. However, dogs with two copies of the same mutation are grossly overmuscled, superficially resembling double-muscled cattle known to possess similar mutations. This result is the first to quantitatively link a mutation in the myostatin gene to athletic performance. Further, it emphasizes what is sure to be a growing area of research for performance-enhancing polymorphisms in competitive athletics. Future implications include screening for myostatin mutations among elite athletes. However, as little is known about the health issues and potential risks associated with being a myostatin-mutation carrier, research in this arena should proceed with extreme caution.
登录
查看更多内容
影响因子：
2.5
作者：
Marchitelli, C;Savarese, MC;Valentini, A
通讯作者：
Valentini, A
影响因子：
3
作者：
Sweeney, HL
通讯作者：
Sweeney, HL
影响因子：
14.9
作者：
Nickerson, DA;Tobe, VO;Taylor, SL
通讯作者：
Taylor, SL
DOI：
10.1016/0301-6226(79)90027-7
发表时间：
1979-01-01
期刊：
LIVESTOCK PRODUCTION SCIENCE
影响因子：
--
作者：
ANSAY, M;HANSET, R
通讯作者：
HANSET, R
影响因子：
2.5
作者：
Grobet, L;Poncelet, D;Georges, M
通讯作者：
Georges, M