Unidad de Tecnología en Producción Animal, CITA, 59059 Zaragoza, Spain; ARAID, 50004 Zaragoza, Spain.
Meat Sci. 2014 Feb;96(2 Pt A):775-82. doi: 10.1016/j.meatsci.2013.10.003. Epub 2013 Oct 9.
First we looked for putative causative mutations in the CAST and CAPN1 genes associated with meat tenderness and found a total of 31 and 7 polymorphisms, respectively, in the Parda de Montaña and Pirenaica breeds. Tenderness was not affected by mutations in CAPN1. However, three SNPs located at intron 5 (BTA7: g.98533962C>G on UMD 3.0), exon 7 (g.98535683A>G) and intron 12 (g.98545188T>A) of the CAST gene were significantly associated with meat tenderness at 7 days post-mortem in the Parda de Montaña breed. The haplotypes h2 and h5 showed significant associations with meat toughness being consistent with the SNP association results, which showed that the g.98535683A>G SNP in CAST might be the causative mutation of the effect found in this study. This mutation changes the amino acid sequence at position p.Thr182Ala (NM_174003). This amino acid substitution could affect the interacting regions between the calpastatin L-domain and calpain, and then could generate a more stable union between calpain and calpastatin.
首先，我们在与肉质嫩度相关的 CAST 和 CAPN1 基因中寻找可能的致病突变，分别在 PardadeMontaña 和 Pirenaica 品种中发现了 31 种和 7 种多态性。CAPN1 中的突变并不影响嫩度。然而，CAST 基因第 5 内含子（UMD3.0 上的 BTA7：g.98533962C>G）、第 7 外显子（g.98535683A>G）和第 12 内含子（g.98545188T>A）中的 3 个 SNP 与 PardadeMontaña 品种的 7 天死后肉质嫩度显著相关。单倍型 h2 和 h5 与肉质韧性显著相关，与 SNP 关联结果一致，表明 CAST 中的 g.98535683A>G SNP 可能是本研究中发现的效应的致病突变。该突变改变了位置 p.Thr182Ala（NM_174003）的氨基酸序列。这种氨基酸取代可能会影响钙蛋白酶抑制蛋白 L 结构域与钙蛋白酶之间的相互作用区域，从而在钙蛋白酶和钙蛋白酶抑制蛋白之间产生更稳定的结合。
