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Identification of Genetic Associations and Functional Polymorphisms of SAA1 Gene Affecting Milk Production Traits in Dairy Cattle

机译：SAA1基因影响奶牛产奶性状的遗传关联和功能多态性的鉴定

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摘要

Our initial RNA sequencing (RNA-seq) revealed that the Serum amyloid A1 (SAA1) gene was differentially expressed in the mammary glands of lactating Holstein cows with extremely high versus low phenotypic values of milk protein and fat percentage. To further validate the genetic effect and potential molecular mechanisms of SAA1 gene involved in regulating milk production traits in dairy cattle, we herein performed a study through genotype-phenotype associations. Six identified SNPs were significantly associated with one or more milk production traits (0.00002< P < 0.0025), providing additional evidence for the potential role of SAA1 variants in milk production traits in dairy cows. Subsequently, both luciferase assay and electrophoretic mobility shift assay (EMSA) clearly demonstrated that the allele A of g.-963C>A increased the promoter activity by binding the PARP factor while allele C did not. Bioinformatics analysis indicated that the secondary structure of SAA protein changed by the substitution A/G in the locus c. +2510A>G. Our findings were the first to reveal the significant associations of the SAA1 gene with milk production traits, providing basis for further biological function validation, and two identified SNPs, g.-963C>A and c. +2510A>G, may be considered as genetic markers for breeding in dairy cattle.
机译：我们的初始RNA测序（RNA-seq）显示，血清泌乳类蛋白A1（SAA1）基因在泌乳荷斯坦奶牛的乳腺中差异表达，牛奶蛋白和脂肪百分比的表型值极高或极低。为了进一步验证SAA1基因参与调节奶牛产奶特性的遗传效应和潜在分子机制，我们在本文中通过基因型-表型关联进行了一项研究。六个已鉴定的SNP与一个或多个产奶性状显着相关（0.00002

A的等位基因A通过结合PARP因子而增加了启动子活性，而等位基因C则没有。生物信息学分析表明，基因座c中SAA蛋白的二级结构因A / G取代而改变。 + 2510A> G。我们的发现是第一个揭示SAA1基因与牛奶生产性状之间显着关联的研究，为进一步的生物学功能验证提供了依据，并且鉴定出了两个SNP，即-963C> A和c。 + 2510A> G，可以认为是奶牛育种的遗传标记。

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