贵州白山羊SIRT1基因组织表达及其多态性与血清脂代谢指标的关联性分析  

Tissue Expression, Polymorphism of SIRT1 Gene in Guizhou White Goat(Capra hircus) and Its Association with Serum Lipid Metabolism Index

作　　者：惠茂茂 陈祥[1,2] 阮涌[1,2] 李世军[1,2] 周志楠 杨沛方 张艳[1,2] HUI Mao-Mao;CHEN Xiang;RUAN Yong;LI Shi-Jun;ZHOU Zhi-Nan;YANG Pei-Fang;ZHANG Yan(Key Laboratory of Genetic Breeding and Reproduction of Plateau Mountain Animals,Ministry of Education,Guizhou University/Key Laboratory of Animal Genetic Breeding and Reproduction,Guizhou Province,Guiyang 550025,China;School of Animal Science,Guizhou University,Guiyang 550025,China)

机构地区：[1]贵州大学高原山地动物遗传育种与繁殖教育部重点实验室/贵州省动物遗传育种与繁殖重点实验室,贵阳550025 [2]贵州大学动物科学学院,贵阳550025

出　　处：《农业生物技术学报》2022年第8期1534-1546,共13页Journal of Agricultural Biotechnology

基　　金：贵州省科技重大专项资助项目(黔科合重大专项字[2016]3002号);贵州省科技支撑计划项目(黔科合支撑[2020]1Y030号);贵州省肉羊产业技术体系项目(GZRYTX2019-01)。

摘　　要：沉默信息调节因子1(silent mating type information regulation 2 homolog 1,SIRT1)通过去乙酰化参与脂肪动员、影响脂肪代谢。为探究贵州白山羊(Capra hircus)中SIRT1基因多态性,并筛选与贵州白山羊血清脂代谢指标相关的SNP位点,本研究对SIRT1进行生物信息学分析,分析SIRT1基因在各组织中的表达情况及SNPs与血清中胆固醇、甘油三酯和游离脂肪酸的关联性。结果显示,SIRT1基因在11个组织中均有表达,其中肝脏、背最长肌中的表达量极显著高于其他组织(P<0.01);贵州白山羊SIRT1基因共检测出11个突变位点,均位于1、6外显子上;遗传学分析发现,g.21206621T>C、g.21206920T>G、g.21207071A>C、g.21215871G>A、g.21216960T>C、g.21217717T>C和g.21217777A>G位点PIC均处于中度多态水平,g.21207042C>T、g.21217404T>C突变位点群体基因遗传平衡偏离Hardy-Weinberg平衡状态(P<0.01);连锁不平衡分析显示,g.21206621T>C、g.21206920T>G、g.21207071A>C、g.21215871G>A、g.21216960T>C、g.21217717T>C、g.21217777A>G位点之间,g.21207042C>T、g.21217404T>C两个位点之间互相存在强连锁不平衡效应;生物信息学分析可知,该蛋白质分子式为C3514H5530N968O1153S26,系非跨膜蛋白,有3个N-糖基化位点,二、三级结构主要以无规则卷曲结构占比最高。g.21206920T>G、g.21207071A>C、g.21216060C>A、g.21216960T>C位点突变后最小自由能不变,其他位点均发生改变。关联性分析发现,g.21206920T>G和g.21217777A>G位点处胆固醇、甘油三酯和游离脂肪酸含量在不同基因型之间差异显著(P<0.05);g.21206621T>C、g.21216960T>C和g.21217717T>C位点处胆固醇、游离脂肪酸含量在不同基因型之间差异显著(P<0.05);g.21207071A>C位点处甘油三酯和游离脂肪酸含量在不同基因型之间差异显著(P<0.05);游离脂肪酸在g.21215871G>A位点处不同基因型之间差异显著(P<0.05)。本研究结果表明,SIRT1基因可作为贵州白山羊脂肪代谢与沉积的候选分子标记,Silent mating type information regulation 2 homolog 1(SIRT1) is involved in lipid mobilization through deacetylation and affects lipid metabolism. To investigate the polymorphism of SIRT1 gene in Guizhou white goats(Capra hircus) and to screen the SNP loci associated with serum lipid metabolism indexes in Guizhou white goats, this study conducted bioinformatics analysis of SIRT1, and analyzed the expression of SIRT1 gene in various tissues and the association of SNPs with serum cholesterol, triglycerides and free fatty acids. The results showed that SIRT1 gene was expressed in 11 tissues, among which the expression in liver and longest dorsal muscle was extremely significant higher than other tissues(P<0.01);11 mutation sites were detected in the SIRT1 gene of Guizhou white goat, all of which were located on exons 1 and 6;genetic analysis revealed that the PIC of the 7 SNP loci(g. 21206621T>C, g. 21206920T>G, g. 21207071A>C,g. 21215871G>A, g. 21216960T>C, g. 21217717T>C, g. 21217777A>G) were all at moderate polymorphic levels. g. 21207042C>T and g. 21217404T>C mutant loci population genetic balance deviated from HardyWeinberg equilibrium(P<0.01). Linkage disequilibrium analysis showed that g.21206621T>C, g.21206920T>G, g.21207071A>C, g.21215871G>A, g.21216960T>C, g.21217717T>C, g.21217777A>G, g.21217777A>G sites, g. 21207042C>T, g. 21217404T>C sites had a strong linkage disequilibrium effect with each other;bioinformatics analysis showed that the protein had the molecular formula C3514H5530N968O1153S26, a nontransmembrane protein with 3 N-glycosylation sites, and the secondary and tertiary structures were mainly irregular curl. The free energy of g. 21206920T>G, g. 21207071A>C, g. 21216060C>A and g. 21216960T>C sites was unchanged after mutation, while all other sites were changed. Association analysis revealed that the cholesterol, triglyceride and free fatty acid contents at the g.21206920T>G and g.21217777A>G loci differed significantly(P<0.05) between genotypes;the cholesterol and free fatty acid contents at

关 键 词：沉默信息调节因子1(SIRT1) 单核苷酸多态性 贵州白山羊 总胆固醇 甘油三酯 游离脂肪酸 

分 类 号：S827[农业科学—畜牧学]