贵州白山羊<em>SIRT1</em>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

doi:10.3969/j.issn.1674-7968.2022.08.009

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Abstract 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 Hardy-Weinberg 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 non-transmembrane 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 the g.21206621T>C, g.21216960T>C and g.21217717T>C loci differed significantly (P<0.05) between genotypes. Triglyceride and free fatty acid contents at the g.21207071A>C locus differed significantly (P<0.05) between genotypes; free fatty acid contents at the g.21215871G>A locus differed significantly (P<0.05) between genotypes. This study speculates that SIRT1 gene can be used as a candidate molecular marker for fat metabolism and deposition in white goats in Guizhou, and clarifies the loci related to fat-related metabolic indexes regulated by SIRT1 gene to provide theoretical reference for carrying out genetic markers in goats.

Key words： Silent mating type information regulation 2 homolog 1 (SIRT1) Single nucleotide polymorphism Guizhou white goat Total cholesterol Triglyceride Free fatty acid

Received: 11 October 2021

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Corresponding Authors: *xchen2@gzu.edu.cn

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	HUI Mao-Mao
	CHEN Xiang
	RUAN Yong
	LI Shi-Jun
	ZHOU Zhi-Nan
	YANG Pei-Fang
	ZHANG Yan

Cite this article:

HUI Mao-Mao,CHEN Xiang,RUAN Yong, et al. Tissue Expression, Polymorphism of SIRT1 Gene in Guizhou White Goat(Capra hircus) and Its Association with Serum Lipid Metabolism Index[J]. 农业生物技术学报, 2022, 30(8): 1534-1546.

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http://journal05.magtech.org.cn/Jwk_ny/EN/10.3969/j.issn.1674-7968.2022.08.009 OR http://journal05.magtech.org.cn/Jwk_ny/EN/Y2022/V30/I8/1534

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