静原鸡ELOVL2基因多态性及其生物信息学分析  

Polymorphism and Bioinformatics Analysis of ELOVL2 Gene in Jingyuan Chicken

作　　者：张娟[1] 母童 顾亚玲[1] 赵平 冯小芳 国鹏 武泽文 刘丽元[1] 蒋秋斐[1] Zhang Juan;Mu Tong;Gu Yaling;Zhao Ping;Feng Xiaofang;Guo Peng;Wu Zewen;Liu Liyuan;Jiang Qiufei(College of Agriculture,Ningxia University,Yinchuan,750021;Animal Husbandry and Technology Promotion Service Center of Pengyang County,Guyuan,756500)

机构地区：[1]宁夏大学农学院,银川750021 [2]彭阳县畜牧技术推广服务中心,固原756500

出　　处：《基因组学与应用生物学》2020年第3期1003-1012,共10页Genomics and Applied Biology

基　　金：国家自然科学基金资助项目(31860621)资助。

摘　　要：极长链脂肪酸延长酶(elongation of very-long-chain fatty acids, ELOVLs)是脂肪酸合成过程中的关键限速酶,在脂类的生物合成及脂肪酸代谢等调控方面作用显著。为研究宁夏地方优良品种静原鸡ELOVL2基因多态性及其编码蛋白质的结构与功能,以原鸡ELOVL2基因序列作为参考序列,针对ELOVL2基因的8个外显子序列设计特异引物并扩增,经DNA混合池测序筛选出存在突变位点的外显子序列,运用PCR-SSCP技术检测其多态性,经序列拼接后对ELOVL2 CDS区序列进行功能生物信息学分析。研究结果表明,静原鸡ELOVL2基因仅exon7和exon8发生单碱基突变(exon7为c.708 G>A, exon8为c.888 T>C),均未引起氨基酸的改变,属同义突变。在exon7和exon8扩增片段中分别检测出3种(AA, AG和GG)、2种(CC和TC)基因型。遗传特性分析显示,E2e7呈中度多态(0.250.05)。生物信息学分析表明,ELOVL2 CDS序列全长为894 bp,共编码297个氨基酸。其原子组成为C1638H2444N394O406S15,分子量为34.63 kD,等电点(pI)为9.40;存在7个跨膜结构,21个磷酸化位点,无信号肽序列,为稳定的水溶性蛋白;ELOVL2基因在进化中高度保守。该研究结果将为进一步研究ELOVL2基因在静原鸡肉质方面的作用及功能提供参考。The elongation of very-long-chain fatty acids is the key rate-limiting enzyme in the synthesis of fatty acid, which plays an important role in regulating the biosynthesis of lipids, fatty acid metabolism and the occurrence of some metabolic diseases. To investigate the polymorphism of the ELOVL2 gene, the structure and function of the encoded protein in Jingyuan chicken, an excellent local variety of Ningxia,the ELOVL2 gene sequence of the Gallus was used as the reference sequence and specific primers were designed and amplified for 8 exons of ELOVL2 gene. The exon sequence of the mutation site was screened by DNA mixing pool sequencing.PCR-SSCP technique was used to detect the polymorphisms, and functional bioinformatics analysis of the ELOVL2 CDS sequence was performed after the sequences splicing. The results showed that the single-base mutation of exon7 and exon8 of ELOVL2 gene in Jingyuan chicken(exon7 c.708 G>A, exon8 c.888 T>C), did not cause the change of amino acids, and they were synonymous mutations. 3(AA, AG and GG) and 2(CC and TC)genotypes were detected in exon7 and exon8 amplified fragments respectively. Genetic analysis showed that E2e7 was moderate polymorphism(0.25 0.05). Bioinformatics analysis indicated that the full-length was 894 bp of ELOVL2 CDS sequence, encoding 297 amino acids. Its atomic composition was C1638H2444N394O406S15, the molecular weight was 34.63 kD, and the isoelectric point(pI) was 9.40;there were 7 transmembrane structures, 21 phosphorylation sites and no signal peptide sequences, stable watersoluble proteins;ELOVL2 gene was highly conserved in evolution. The results of this study will provide a reference for further study on the role and function of ELOVL2 gene in Jingyuan chicken meat quality.

关 键 词：静原鸡 多态性 基因 ELOVL2 生物信息学 

分 类 号：S831[农业科学—畜牧学]