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Exploration of deleterious single nucleotide polymorphisms in the components of human P bodies: An in silico approach

Venkatesh, Thejaswini and Suresh, Padmanaban S (2013) Exploration of deleterious single nucleotide polymorphisms in the components of human P bodies: An in silico approach. In: GENE, 528 (2). pp. 360-363.

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Official URL: http://dx.doi.org/10.1016/j.gene.2013.07.010


P bodies are 100-300 nm sized organelles involved in mRNA silencing and degradation. A total of 60 human proteins have been reported to localize to P bodies. Several human SNPs contribute to complex diseases by altering the structure and function of the proteins. Also, SNPs alter various transcription factors binding, splicing and miRNA regulatory sites. Owing to the essential functions of P bodies in mRNA regulation, we explored computationally the functional significance of SNPs in 7 P body components such as XRN1, DCP2, EDC3, CPEB1, GEMIN5, STAU1 and TRIM71. Computational analyses of non-synonymous SNPs of these components was initiated using well utilized publicly available software programs such as the SIFT, followed by PolyPhen, PANTHER, MutPred, I-Mutant-2.0 and PhosSNP 1.0. Functional significance of noncoding SNPs in the regulatory regions were analysed using FastSNP. Utilizing miRSNP database, we explored the role of SNPs in the context that alters the miRNA binding sites in the above mentioned genes. Our in silico studies have identified various deleterious SNPs and this cataloguing is essential and gives first hand information for further analysis by in vitro and in vivo methods for a better understanding of maintenance, assembly and functional aspects of P bodies in both health and disease. (C) 2013 Elsevier B.V. All rights reserved.

Item Type: Journal Article
Publication: GENE
Additional Information: Copyright for this article belongs to Science Direct
Keywords: SNP; P bodies
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 25 Oct 2013 06:51
Last Modified: 25 Oct 2013 06:51
URI: http://eprints.iisc.ac.in/id/eprint/47564

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