狮头鹅ESR1基因SNP位点的筛查及生物信息学分析  

Screening and bioinformatics analysis of SNP in ESR1 gene of Lion-head goose

作　　者：陈新企 周光现 王慧芳 刘瑞子 贾汝敏[1] 赵志辉 CHEN Xinqi;ZHOU Guangxian;WANG Huifang;LIU Ruizi;JIA Rumin;ZHAO Zhihui(College of Coastal Agricultural Sciences,Guangdong Ocean University,Zhanjiang 524088,China)

机构地区：[1]广东海洋大学滨海农业学院,广东湛江524088

出　　处：《黑龙江畜牧兽医》2022年第5期57-63,134,135,共9页Heilongjiang Animal Science And veterinary Medicine

基　　金：广东省现代农业产业技术体系创新团队项目(2019KJ137,2020KJ137);狮头鹅品种选育及健康养殖项目(B15337)。

摘　　要：为了了解ESR1基因的特性及其在狮头鹅群体内的突变情况,试验采用PCR产物直接测序法检测狮头鹅ESR1基因SNP位点,同时通过PCR扩增和测序获得狮头鹅ESR1基因编码区,并对编码区ESR1蛋白和mRNA二级结构进行生物信息学预测分析。结果表明:在狮头鹅群体中,ESR1基因有1个SNP位点,即g.51528279 T>C,该位点为外显子同义突变,且只发现CT、CC两种基因型。ESR1基因突变前后编码蛋白质未发生变化,属于不稳定非跨膜非分泌型亲水蛋白;有卷曲螺旋结构;不存在信号肽。亚细胞定位于细胞核、线粒体、细胞膜、囊泡的分泌系统和细胞质的概率分别为69.6%、13.0%、8.7%、4.3%、4.3%,主要在细胞核中发挥生物学作用;有73个磷酸化位点,1个N-糖基化位点,2个保守结构分别为ZnF;4和HOLI,二级结构主要以α-螺旋和无规则卷曲为主。ESR1基因突变前后mRNA的最小自由能二级结构未发生改变,但质心二级结构、含有假结结构的mRNA结构、折叠结构、点-括号结果、山地图发生改变,且自由能降低,结构更加稳定。说明狮头鹅ESR1基因多态位点将为通过分子生物学方法提高狮头鹅的产蛋性能提供理论依据,并可用于育种实践的分子标记。In order to understand the characteristics of estrogen receptor(ESR1) gene and its mutation in the population of Lion-head geese, the SNPS of ESR1 gene in Lion-head geese was detected by direct sequencing of PCR products. Meanwhile, the coding region of ESR1 gene was obtained by PCR amplification and sequencing, and the coding region protein and mRNA secondary level of ESR1 protein were predicted and analyzed by bioinformatics. The results showed that there was a SNP locus in the ESR1 gene, namely g.51528279 T>C, which was an exon synonymous mutation, and only CT and CC genotypes were found. The encoding protein of ESR1 gene had no change before and after mutation, which belonged to the unstable and non-transmembrane basic hydrophilic protein with a coiled-spiral structure and no signal peptide. The probability of subcellular localization in the secretion system and cytoplasm of nucleus, mitochondria, cell membrane and vesicle was 69.6%, 13.0%, 8.7%, 4.3% and 4.3%, respectively, which mainly played a biological role in the nucleus. There were 73 phosphorylation sites and 1 N-glycosylation site. The two conserved structures were ZNF;4 and HOLI, and α helix and irregular coil were the main secondary structures. The minimum free energy(MFE) secondary structure of mRNA before and after ESR1 gene mutation did not change, but the centroid secondary structure, mRNA secondary structure with pseudoknot, folding structure, point bracket result, and a mountain plot changed;the free energy decreased, and the structure was more stable. The results indicated that ESR1 gene polymorphism will provide a theoretical basis for improving the laying performance of Lion-head geese through molecular biology methods, and screen out molecular markers that could be used in breeding practice.

关 键 词：狮头鹅 ESR1基因 SNP位点 多态性 生物信息学分析 

分 类 号：S835[农业科学—畜牧学] Q78[农业科学—畜牧兽医]