Identification of an (AC)n microsatellite in the Six1 gene promoter and its effect on production traits in Pietrain x Duroc x Landrace x Yorkshire pigs
Identification of an (AC)n microsatellite in the Six1 gene promoter and its effect on production traits in Pietrain x Duroc x Landrace x Yorkshire pigs
复制标题
Six1 基因启动子中 (AC)n 微卫星的鉴定及其对皮特兰 x 杜洛克 x 长白 x 约克夏猪生产性状的影响
DOI：
10.1093/jas/skx024
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发表时间：
2018
影响因子：
3.3
通讯作者：
Liu H. L.
中科院分区：
文献类型：
--
作者：
Wu W. J.;Liu K. Q.;Li B. J.;Dong C.;Zhang Z. K.;Li P. H.;Huang R. H.;Wei W.;Chen J.;Liu H. L.
Sine oculis homeobox 1（Six 1）基因对骨骼肌的生长和肌纤维的特化具有重要的调控作用，因此被认为是一个很有前途的影响猪生长和肉质性状的候选基因。然而，协会ofSix 1与这些过程和调节其表达的机制仍不清楚。本研究旨在鉴定Six 1基因在不同猪种中的变异位点，并对这些变异位点与皮×杜×长×约克郡商品猪生产性状的关系进行关联分析，探讨Six 1基因影响生产性状的可能调控机制。共鉴定出12个变异体，包括10个单核苷酸变异（SNVs）、1个插入-缺失（Indel）和1个（AC）n微卫星。关联分析表明SNV（g.1595A>G）与肉色（红度，a*）显著相关，携带G等位基因的个体肉色a * 值显著高于携带G等位基因的个体（P< 0.05）。结果表明，Six 1基因启动子区（AC）n多态性与断奶重（P< 0.05）、胴体重（P< 0.05）和胸腰背膘厚（P< 0.01）显著相关，并且与Six 1基因表达水平密切相关，体外实验证实了该多态性对Six 1基因启动子活性的影响。本研究为阐明Six 1作为候选基因对猪生产性状的影响提供了新的证据，并描述了具有这些性状的两个变异体，它们是猪分子育种的潜在参考标记。此外，我们的数据之间的关系，猪Six 1的表达和多态性（AC）n微卫星在其启动子可能有助于类似的研究在其他物种。
TheSine oculis homeobox 1(Six1) gene is important for skeletal muscle growth and fiber specification; therefore, it is considered as a promising candidate gene that may influence porcine growth and meat quality traits. Nevertheless, the association ofSix1with these processes and the mechanisms regulating its expression remain unclear. The objectives of this study were to identify variant sites ofSix1in different pig breeds, conduct association analysis to evaluate the relationship between polymorphisms of these variants and porcine production traits in Pietrain × Duroc × Landrace × Yorkshire commercial pigs, and explore the potential regulatory mechanisms ofSix1affecting production traits. A total of 12 variants were identified, including 10 single- nucleotide variations (SNVs), 1 insertion– deletion (Indel), and 1 (AC)n microsatellite. Association analysis demonstrated that the SNV, g.1595A>G, was significantly associated with meat color (redness,a*); individuals with the G allele had greatera* values (P< 0.05). Moreover, our results demonstrated that the (AC)n polymorphism in theSix1promoter was significantly associated with weaning weight (P< 0.05), carcass weight (P< 0.05), and thoracic and lumbar back fat (P< 0.01).In addition, we found that the (AC)n variant was closely related withSix1expression levels and demonstrated this polymorphism on promoter activity by in vitro experiments. Overall, this study provides novel evidence for elucidating the effects ofSix1on porcine production traits as promising candidate and describes two variants with these traits, which are potential reference markers for pig molecular breeding. In addition, our data on the relationship between porcineSix1expression and the polymorphic (AC)n microsatellite in its promoter may facilitate similar studies in other species.