基于诱导多能干细胞的Alport综合征差异性表达小核糖核酸的生物信息学分析  

Bioinformatic Analysis of micro RNA Expression for Alport Syndrome Based on i PSCs

作　　者：陈文标[1,2] 黄建溶 彭武建[3] 林小聪[4] 戴勇[1,2] 

机构地区：[1]暨南大学第二临床学院 [2]深圳市人民医院临床医学研究中心,广东深圳518020 [3]深圳市第三人民医院肾脏内科,广东深圳518112 [4]广东医学院生物化学研究所,广东湛江524023

出　　处：《中国医科大学学报》2014年第7期625-630,共6页Journal of China Medical University

基　　金：深圳市卫生局科技项目(201202139)

摘　　要：目的寻找Alport综合征患者(AS)与健康对照者(NC)差异性表达小核糖核酸(micro RNAs)。分析差异性表达micro RNAs的生物信息学特点。方法收集AS与NC组的尿液,从尿液中分离尿肾脏管细胞,将尿肾脏管细胞诱导分化成多能干细胞(i PSCs)。运用高通量测序找出2组之间差异性表达的micro RNAs,用于预测特异性靶基因。靶基因可进行gene ontology(GO)富集与Kyoto encyclopedia of genes and genomes(KEGG)通路信号分析。确定差异性表达的micro RNAs靶基因的主要富集位点与通路信号条目。结果在2组样本中发现30个micro RNAs具有差异性表达,包括19个上调与11个下调。差异性表达micro RNAs靶基因GO富集主要聚集在细胞分子、细胞组成与细胞生物学过程。嘌呤代谢通路与丝裂原激活的蛋白激酶是主要的KEGG信号传导通路。结论差异性表达micro RNAs靶基因的生物信息学可能在AS发病机制中起重要作用,可作为潜在靶点用于AS病因的深入研究。Objective To investigate the different expression microRNAs between Alport syndrome （AS） and healthy control （NC）,and analyze the signal pathway base on these different expressed microRNAs.Methods Urine from AS patients and NC were collected to separate the renal tubular cells.The renal tubular cells were induced into induced pluripotent stem cells （iPSCs）.The different expression microRNAs were found by means of high-throughput illumina technology.The target genes of these different expressed microRNAs were subjected to gene ontology （GO） and kyoto encyclopedia of genes and genomes （KEGG） pathways analysis.Finally,the significant GO enrichment and key KEGG pathways were verified in order to find out the specific part.Results Thirty microRNAs were found to be significantly different expressed include nineteen were up-regulated and eleven were down-regulated.Gene target predictions for the microRNAs revealed the high ranking GO enrichment were implicated cell molecular,cell part and cellular process.The puine metabolism pathways and mitogen activated protein kinase （MAPK） signaling pathway were enriched by the largest number of target genes.Conclusion The significantly different expression of microRNAs and their target genes were involved in the pathogenesis of AS,which could be potential targets for the further study of the cause of AS.

关 键 词：ALPORT综合征 小核糖核酸 GO富集 KEGG通路 

分 类 号：R394-33[医药卫生—医学遗传学]