Abstract

<p>Gene and microRNA sequence and structure were retrieved from miRBase database (<a href="http://microrna.sanger.ac.uk/targets/v3/" target="_blank">http://microrna.sanger.ac.uk/targets/v3/</a>). Multiple computational prediction tools were employed to identify miR-196a2 target genes (in 3'URT, 5'UTR, and CDS) as miRDB, miRNAMap, TargetScanHuman v6.2, miRTarBase v18 and DIANA-microT-CDS v5.0 databases. Result intersection, statistical validation, and filtration of the putative miRNA targets were applied to reduce the false positive prediction rate. The predicted miRNA target genes were analyzed for gene ontology (GO) terms and KEGG enrichment pathway analysis using DIANA-miRPath v2.0 web-server (<a href="http://diana.imis.athenainnovation.gr/DianaTools/index.php?r=mirpath/index" target="_blank">http://diana.imis.athenainnovation.gr/DianaTools/index.php?r=mirpath/index</a>) and miRTar Human tool (<a href="http://miRTar.mbc.nctu.edu.tw/" target="_blank">http://miRTar.mbc.nctu.edu.tw/</a>). MiRNA-196a2-disease association was explored using a miRPub server (<a href="http://www.microrna.gr/mirpub/" target="_blank">http://www.microrna.gr/mirpub/</a>). Gene variations and frequencies in various populations were obtained from Ensembl (<a href="http://www.ensembl.org/" target="_blank">http://www.ensembl.org/</a>) and miRdSNP databases (<a href="http://mirdsnp.ccr.buffalo.edu/" target="_blank">http://mirdsnp.ccr.buffalo.edu/</a>). The Impact of the SNP on secondary structure was predicted based on the minimum free energy using miRNAMap 2.0 and RNAfold server. Comparative functional analysis between predicted target gene sets in wild and mutant variants were performed using miRmut2Go. SNP identification in the study groups aimed to assess its association with disease risk, severity and pulmonary function.</p

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