山羊GDF9基因编码区nsSNPs的生物信息学分析

Bioinformatics Analysis of Coding Region nsSNPs in Goat GDF9 Gene

为筛选山羊GDF9基因的功能性nsSNPs,利用生物信息学技术对该基因编码区nsSNPs进行了有害位点的预测,进一步对有害nsSNPs在GDF9蛋白的位置、进化保守性及其对编码蛋白的稳定性、高级结构的影响等进行了预测分析,同时分析了该蛋白的泛素化修饰位点和磷酸化修饰位点。结果表明,山羊GDF9基因编码区14个nsSNPs中存在6个有害突变位点(R453H,V371M,P348S,F347S,S325Y,L266S),均不在蛋白跨膜区;R453H,V371M,P348S,L266S属于高保守性位点;R453H,V371M,P348S,F347S,L266S可降低蛋白的稳定性;V371M,L266S可能参与了蛋白二级结构的形成;R453H,V371M,L266S对蛋白三级结构有影响。推测有害突变位点R453H,V371M,P348S,F347S,S325Y,L266S可能是山羊GDF9基因的功能性nsSNPs。

In order to screen the functional nsSNPs of the goat GDF9 gene,bioinformatics technology was used to predict the harmful sites of the nsSNPs in the coding region of the gene,and the position of harmful nsSNPs in the GDF9 protein,the evolutionary conservation,and the effects on the stability and the high-level structure of the protein.The results showed that there were 6 deleterious mutation sites(R453H,V371M,P348S,F347S,S325Y and L266S)in the 14 nsSNPs in the coding region of goat GDF9 gene,all of which were not in the protein transmembrane region.R453H,V371M,P348S and L266S were highly conserved sites.R453H,V371M,P348S,F347S and L266S could reduce the stability of the protein.V371M and L266S might be involved in the formation of protein secondary structure.R453H,V371M and L266S had an effect on the tertiary structure of the protein.The harmful mutation sites R453H,V371M,P348S,F347S,S325Y and L266S may be functional nsSNPs of goat GDF9 gene.