Title: A comprehensive in-silico characterisation of Gasdermin Superfamily genes regulating pyroptosis linked diseases

Authors: Suman Rani; Praveen P. Balgir; Nandini; Bhagwant Singh; Husandeep Kaur

Addresses: Department of Biotechnology, Punjabi University, Patiala, 147002, India ' Department of Biotechnology, Punjabi University, Patiala, 147002, India ' Department of Biotechnology, Punjabi University, Patiala, 147002, India ' Department of Biotechnology, Punjabi University, Patiala, 147002, India ' Department of Biotechnology, Punjabi University, Patiala, 147002, India

Abstract: Pyroptosis is a lytic form of inflammatory cell death. Nonsynonymous single nucleotide polymorphisms (nsSNPs) have been accepted as biomarkers of disease susceptibility. In the present study nsSNPs of Gasdermin Superfamily Genes, presently proven to be involved in pyroptosis and consequently in the aetiology of many diseases, were screened for their functional and structural effects. 3 nsSNPs of GSDMA, 2 each of GSDMB, GSDMC and GSDMD, 6 nsSNPs of GSDME and 2 nsSNPs of DFNB59 gene were predicted to be deleterious; showing a decrease in structural stability by in-silico tools. Further in silico analysis of post-translationally modified Phosphorylation sites of members of gene family were checked for the presence of SNPs which may influence the PTM and consequently the protein function. The current study has comprehensively tried to analyse all Gasdermin family gene variants with different in-silico algorithms combined with already available literature of wet lab experiments, to propose a list of nsSNPs that are the potential targets for future functional genetic analysis.

Keywords: nsSNPs; SIFT; PolyPhen; PROVEAN; MuPro; I-Mutant; SNP & Go; I-TASSER; STRUM; Accelrys Discovery Studio 4.0; Gasdermin family; pyroptosis.

DOI: 10.1504/IJBRA.2022.126732

International Journal of Bioinformatics Research and Applications, 2022 Vol.18 No.4, pp.271 - 299

Accepted: 09 Mar 2022
Published online: 03 Nov 2022 *

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