Dipartimento di Medicina Veterinaria, Università degli Studi di Sassari, via Vienna 2, 07100 Sassari, Italy.
J Dairy Res. 2013 Aug;80(3):255-62. doi: 10.1017/S0022029913000174. Epub 2013 Apr 23.
The aim of this research was to investigate variability in each of the five exons of the caprine growth hormone (gGH) gene, in order to establish the possible relationships with milk traits in Sarda breed goat. The general linear model procedure was used to analyse the effects of the single strand conformation (SSCP) profiles on milk traits of 100 lactating goats. Analysis of conformational polymorphism at exons 1-5 revealed a total of 25 differing banding patterns. Sequencing revealed 21 nucleotide changes (compared with GenBank D00476): 14 were polymorphic and 7 monomorphic; 19 in exonic regions, 5 of which were nonsynonymous. A SNP upstream of the transcription initiation codon (c.-3A>G) and an indel (c.*29_30insC) in the 3'UTR, were detected. Alignment of 4 cloned sequences including the entire gGH gene led to the identification of 22 nucleotide variations within the intron regions, including two indels. Association analysis revealed that each exon, except exon-1, affected milk yield, exons 1 and 3 influenced milk fat percentage, and all exons, except exon-2, had an effect on protein percentage, supporting previous results in livestock. The variability detected at the caprine GH gene might provide useful information for the phylogeny of ruminants and, more importantly, have implications on the biological function of the growth hormone and on those traits resulting from its physiological action, including milk production and composition. The caprine GH gene may become a useful molecular marker for a more effective genetic selection for milk production traits in goats.
本研究旨在调查山羊生长激素(gGH)基因的五个外显子中的每一个的变异性,以便确定与萨杜绵羊品种的牛奶特性的可能关系。使用一般线性模型程序分析了单链构象(SSCP)图谱对 100 只哺乳期山羊牛奶特性的影响。对外显子 1-5 的构象多态性分析揭示了总共 25 种不同的带型。测序显示 21 个核苷酸变化(与 GenBank D00476 相比):14 个是多态性的,7 个是单态性的;19 个在外显子区域,其中 5 个是非同义的。在转录起始密码子(c.-3A>G)的上游和 3'UTR 中发现了一个 SNP(c.*29_30insC)。检测到了转录起始密码子上游的 SNP(c.-3A>G)和 3'UTR 中的插入缺失(c.*29_30insC)。对包括整个 gGH 基因在内的 4 个克隆序列的比对导致在内含子区域中发现了 22 个核苷酸变异,包括两个插入缺失。关联分析表明,除了外显子 1 之外,每个外显子都影响牛奶产量,外显子 1 和 3 影响牛奶脂肪百分比,除了外显子 2 之外,所有外显子都对外源蛋白百分比有影响,这与之前在牲畜中的研究结果一致。在山羊 GH 基因中检测到的变异性可能为反刍动物的系统发育提供有用的信息,更重要的是,对生长激素的生物学功能以及其生理作用产生的那些特性(包括牛奶产量和组成)有影响。山羊 GH 基因可能成为一个有用的分子标记,用于更有效地对山羊的产奶特性进行遗传选择。