Comprehensive analysis of damage associated SNPs of MMP9 gene: A computational approach.

Abstract

Extracellular matrix is a dynamic meshwork of macromolecules that plays an important role in biological processes such as tissue remodeling and various developmental processes. Collagen is the chief component of ECM. Upon hydrolysis, it forms an irreversible left-handed helical structure which is further hydrolyzed by a specialized group of MMP family i.e. Gelatinases (MMP2 and MMP9). Present study was carried to figure out deleterious SNPs associated with MMP9 gene. Our results showed that two nsSNP (rs8125581 and rs41529445) that are present in catalytic domain are highly conserved and affect the protein structure and function.7 SNPs located in UTRs were found to alter miRNA seed region 13 SNPs of splice site were predicted to affect splice signals thereby affecting the post translational expression of MMP9. Most of the SNPs are still uncharacterized thereby present study provides a direction that can help to validate the relation between the altered expressions and functions of MMP9 protein in terms of disease susceptibility.

• Authors: Richa Bhatnager, Maheshwar Bhasin, Amita S Dang
• Journal: Computational biology and chemistry (Comput Biol Chem) Vol. 77 Pg. 97-108 (Dec 2018) ISSN: 1476-928X [Electronic] England
• PMID: 30248431 (Publication Type: Journal Article)
• Copyright: Copyright © 2018 Elsevier Ltd. All rights reserved.

Chemical References

• MMP9 protein, human
• Matrix Metalloproteinase 9

Topics

• Biocatalysis
• Extracellular Matrix (chemistry, genetics, metabolism)
• Humans
• Matrix Metalloproteinase 9 (chemistry, genetics, metabolism)
• Models, Molecular
• Polymorphism, Single Nucleotide (genetics)
• Protein Conformation