Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene
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DOI：
10.1007/s00335-002-2176-5
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发表时间：
2003-06-01
期刊：
影响因子：
2.5
通讯作者：
Valentini, A
中科院分区：
文献类型：
--
作者：
Marchitelli, C;Savarese, MC;Valentini, A
双肌是部分隐性性状，存在于某些牛肉品种中。它在一些品种中出现的频率很高，而在另一些品种中出现的频率很低，双肌个体很少见。这种双肌痉挛是由一系列等位基因突变引起的，这些突变导致了肌肉抑制素基因(GDF8)功能的丧失。我们在这里描述了Marchigiana品种的肌肉抑制素基因的一个新的突变，Marchigiana品种是意大利中部的一个典型的牛肉品种，在其中描述了罕见的双肌个体。对表型为双肌肉的受试者进行了第三外显子的PCR产物测序，发现了引入过早终止密码子的G>；T颠换。这一发现的变异增加了牛身上存在的一大系列突变，特别是第三个外显子中仅有的两个导致双肌肉运动的突变。介绍了一种快速有效的杂合子和纯合子受试者的PCR-RFLP检测方法。它被应用于同样进行的更大规模的调查，也适用于另外两个牛肉品种，Chianina和Romagnola。在Marchigiana中发现了更多携带新变种的个体，但在其他品种中没有发现。这些结果可能对于更好地理解肌肉生长抑制素在肌肉发育中的作用、用于商业用途以及推断该基因的系统发育具有重要意义。
Double muscling is a partially recessive trait present in some beef breeds. It shows a high frequency in some breeds, while in others the frequency is low, and double-muscled individuals are rare. The double muscling is caused by an allelic series of mutations that cause a loss of function of the myostatin gene (GDF8). We describe here a new mutation in the myostatin gene in Marchigiana breed, a typical beef breed of Central Italy, in which rare double-muscling individuals have been described. A PCR product of the third exon was sequenced in subjects phenotypically showing double muscling, and a G > T transversion was discovered that introduces a premature stop codon. The variant found adds to the large series of mutations present in cattle, and particularly to the only two causative of double muscling in the third exon. A PCR-RFLP test is described for the rapid and effective identification of both heterozygous and homozygous subjects. It was applied to a larger survey carried on the same and also in two other beef breeds, Chianina and Romagnola. Further individuals carrying the new variant were found in Marchigiana, but none in the other breeds. The results may be important for a better comprehension of the role of myostatin in muscular development, for commercial use and for the inference of phylogeny of this gene.