Title: Computational studies to explore the role of MSI associated DNA mismatch repair mechanisms in HNPCC through expression and interaction data

Authors: Sadhika Behl; Arushi Sharma; Prashanth Suravajhala; Tiratha Raj Singh

Addresses: Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology (JUIT), Solan, 173234, H.P., India ' Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology (JUIT), Solan, 173234, H.P., India ' Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research, Statue circle, Jaipur 302001, RJ, India ' Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology (JUIT), Solan, 173234, H.P., India

Abstract: Microsatellite instability (MSI) is an error mechanism associated with DNA mismatch repair (MMR) system constituting a set of genes. If MMR fails, MSI may lead to various forms of cancers such as hereditary non polyposis colorectal cancer (HNPCC). In this study, we explored the gene expression and network data to reveal the significance of MSI in HNPCC. Genes and proteins were observed for their specific role in HNPCC with respect to MSI and MMR. Besides standard markers, few genes such as PMS1, TP53, MLH1, CHEK2, RFC3, LIG1, AURKA, CCND1, POLD1, HMGB1, ERCC1, ERCC2, PTGS2, and SLC19A1were identified as putative markers having significant contribution in the regulation of the mechanisms associated with MSI and MMR for HNPCC. Experimental validation of these genes will prove to be a promising outcome for further research and will aid in understanding of the disease.

Keywords: DNA mismatch repair; MSI; microsatellite instability; HNPCC; hereditary non polyposis colorectal cancer; significant microarray analysis; differentially expressed genes.

DOI: 10.1504/IJBRA.2020.113023

International Journal of Bioinformatics Research and Applications, 2020 Vol.16 No.4, pp.408 - 416

Received: 26 Dec 2017
Accepted: 20 May 2018

Published online: 03 Feb 2021 *

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