Alport综合征iPSCs差异性表达新小核糖核苷酸的分析  

Different expressions of novel microRNAs of iPSCs from Alport syndrome

作　　者：陈文标[1,2] 喻祥琪 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

出　　处：《山东大学学报（医学版）》2015年第9期80-85,共6页Journal of Shandong University:Health Sciences

基　　金：广东省深圳市科技计划(JXY20140416122812045)

摘　　要：目的构建Alport综合征(AS)与正常对照者(NC)诱导多能干细胞(i PSCs)新核糖核苷酸(novel microRNA)差异性表达谱,分析其靶基因功能。方法采用前期工作成功从尿肾状杆细胞诱导成的i PSCs,运用高通量测序平台获得AS与NC的差异性表达谱,使用靶基因预测软件Target Scan进行靶基因预测,靶基因与参考基因比较后,在候选靶基因找到显著富集的GO条目及KEGG通路。结果在AS与NC中发现49个有意义的差异性表达novel microRNAs,其中33个表达上调,16个表达下调。在GO靶基因富集分析中,靶基因主要富集于生物调节、生物新陈代谢、细胞组成、细胞信号传导、酶催化反应、分子转运等过程。在KEGG通路分析中,靶基因主要参与代谢通路、嘌呤代谢、癌症转录调节等过程。结论来源于AS与NC的i PSCs存在较大的差异性表达novel microRNA,其靶基因在分子功能、细胞组成、生物过程起着重要作用。这些差异性表达的novel mciroRNAs与靶基因可能是AS发病机制的潜在位点。Objective To investigate the expression profile of iPSCs of novel microRNAs between patients with Alport syndrome （AS） and normal controls （NC）, and to analyze the target genes. Methods The expression profile of novel microRNAs was acquired from previously induced iPSCs, using high-throughput sequencing platform. After that, TargetScan software was adopted to predict target genes, which were then compared with reference genes, and the significantly encriched GO items and KEGG pathways were selected. Results A total of 49 differently expressed novel microRNAs were selected, 33 of which were up-regulated and 16 were down-regulated. GO enrichment analysis indicated that the target genes mainly enriched in biological regulation and metabolism; cell component and signal transduction; enzymic catalytic reaction; transporter activity. KEGG pathway analysis showed that the target genes mainly participated in metabolic pathways, purine metabolism, and cancer transcriptional regulation. Conclusion Novel microRNAs of iPSCs from AS and from NC are differently expressed, and the target genes mainly take part in molecular function, cellular component, and biological activities. Those differently expressed novel microRNAs and target genes may play an important role in the pathogenesis of AS.

关 键 词：ALPORT综合征 小核糖核苷酸 诱导多能干细胞 GO富集 KEGG通路 

分 类 号：R394-33[医药卫生—医学遗传学]