PAX3基因及其蛋白的生物信息学分析

Bioinformatic analysis of PAX3 gene and PAX3 protein

目的:对PAX3基因和PAX3蛋白进行生物信息学分析,更多的了解该基因的相关信息,为进一步研究PAX3与神经管畸形的相关性研究提供基础。方法:运用生物信息学方法对PAX3基因的基因结构、单核苷酸多态性位点(SNP)、PAX3基因与其他基因的相互作用网络、PAX3蛋白结构域、蛋白二级结构、蛋白间相互作用网络、以及PAX3蛋白所调控和影响的靶基因进行分析。结果:PAX3基因有9中可变剪切形式,编码区存在14个SNP位点,其中错意突变13个,移码突变1个。PAX3蛋白由479个氨基酸组成,分子量52968Da,PAX3蛋白可能调控和影响151个靶基因的转录和表达,与PAX3基因存在相互作用的基因和与PAX3蛋白存在相互作用的蛋白多数与发育相关。结论:通过对PAX3基因和PAX3蛋白的生物信息学分析获得了其相应的分子生物学特征,为进一步研究提供基础。

Objective： To obtain more information about PAX3 gene and PAX3 protein.Methods： Bioinformatics approach were applied to analyze PAX3 gene structure,single nucleotide polymorphisms,target genes regulated by PAX3 protein,gene interaction network,protein secondary structure,protein interaction network,multiple sequence alignment of PAX3 gene family,multiple sequence alignment of PAX3 protein and its homologous sequences.Results： There are nine transcripts in PAX3 gene and 14 SNPs were found in coding region,including 13 missense and 1 frame shift.151 target genes of PAX3 regulation factor were found and the interaction network between PAX3 and other genes were get.PAX3 protein has two domains,Homeobox domain and Paired box domain.During the 9 members of PAX3 gene family,PAX3 and PAX7 have the closest relationship.Conclusion： We obtained more biological information about PAX3 gene and PAX3 protein by bioinformatic analysis,which is very useful for further research.