1st International and 10th National Iranian Conference on Bioinformatics
Home Accepted Papers
Bioinformatics Evaluation of the KRT Gene’s Effects on Epidermolysis Bullosa Disease
Paper ID : 1404-ICB10
Authors:
Mitra Omidi1, Mansoureh Azadeh *2, Fatemeh Rostamaei1, Pegah Javid3
1Zist Fanavari Novin biotechnology institute
2Zist Fanavari Novin Biotechnology Department, State Technical and vocational Training Organization, Isfahan, Iran
3Zist Fanavari Novin Biotechnology Department, State Technical and Vocational Training Organization, Isfahan, Iran
Abstract:
The Epidermolysis Bullosa (EB) disease may be caused by mutations in the KRT14 and KRT5 genes, that lead to abnormal polymerization of the middle fibers in the keratinocyte layer and result to weak epidermal [1,2]. The mutation in keratine (KRT) gene mediated by Single Nucleotide Polymorphisms (SNP) and micro-RNA (miRNA) change some alleles that result in EB [3]. The SNPs residing within miRNA at the 3’UTR of genes may, impair miRNA biogenesis and alter target selection have potentially profound [4,5]. In the current study, we aimed to investigate the process of EB disease bioinformatically through SNPs and microRNA affecting the disease. For this purpose, miRNASNP and LncRNASNP2 databases were studied in order to find the effective SNPs in EB and profile changes of genome. The results indicated that the most important genes involve in EB were KRT10 and KRT5. The conversions of alleles A to G, T to C and A to C were observed in SNPs rs780277802, rs774862920 and rs773100474 respectively. The occurrence of these SNPs on miRNA sequence may have potentially profound biological effect and lead to changes in chromosomal structure. Bioinformatics analysis revealed that frequent mutations in chromosomes 17 and 12 lead to mutations in KRT14 and KRT5 genes due to interaction of SNPs and miRNAs. In detail, the occurrence of rs780277802 within hsa-miR-106a-5p, rs774862920 on hsa-miR-20a-5p, and rs773100474 on the sequences of hsa-miR-17-5p on 3’UTR of KRT5 gene may lead the cells to tumorigenesis. In this study and previous studies, it was observed that the main causes of EB is abnormal production of protein and keratin due to interaction of SNPs and mRNA in KRT genes. Overall, it is concluded that the EB phenotype harbor a spectrum of mRNA (hsa-miR-20a-5p) and SNP (rs774862920) mutations in the KRT5 gene.
Keywords:
Skin disease; EB; KRT genes; bioinformatics
Status : Paper Accepted (Poster Presentation)