Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

<h4>Background</h4>Understanding and predicting molecular basis of disease is one of the major challenges in modern biology and medicine. SNPs associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the ATM gene are the mo...

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Autores principales:	C George Priya Doss, B Rajith
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2b2e9529b5fe4d52812b29cb83d6db12
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spelling	oai:doaj.org-article:2b2e9529b5fe4d52812b29cb83d6db122021-11-18T07:22:08ZComputational refinement of functional single nucleotide polymorphisms associated with ATM gene.1932-620310.1371/journal.pone.0034573https://doaj.org/article/2b2e9529b5fe4d52812b29cb83d6db122012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22529920/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Understanding and predicting molecular basis of disease is one of the major challenges in modern biology and medicine. SNPs associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the ATM gene are the most common forms of genetic variations that account for various forms of cancer. However, the extent to which SNPs interferes with the gene regulation and affects cancer susceptibility remains largely unknown.<h4>Principal findings</h4>We analyzed the deleterious nsSNPs associated with ATM gene based on different computational methods. An integrative scoring system and sequence conservation of amino acid residues was adapted for a priori nsSNP analysis of variants associated with cancer. We further extended our approach on SNPs that could potentially influence protein Post Translational Modifications in ATM gene.<h4>Significance</h4>In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in both coding and non coding region that can alter the expression and function of ATM gene. In silico characterization of nsSNPs affecting ATM gene function can aid in better understanding of genetic differences in disease susceptibility.C George Priya DossB RajithPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 4, p e34573 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q C George Priya Doss B Rajith Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
description	<h4>Background</h4>Understanding and predicting molecular basis of disease is one of the major challenges in modern biology and medicine. SNPs associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the ATM gene are the most common forms of genetic variations that account for various forms of cancer. However, the extent to which SNPs interferes with the gene regulation and affects cancer susceptibility remains largely unknown.<h4>Principal findings</h4>We analyzed the deleterious nsSNPs associated with ATM gene based on different computational methods. An integrative scoring system and sequence conservation of amino acid residues was adapted for a priori nsSNP analysis of variants associated with cancer. We further extended our approach on SNPs that could potentially influence protein Post Translational Modifications in ATM gene.<h4>Significance</h4>In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in both coding and non coding region that can alter the expression and function of ATM gene. In silico characterization of nsSNPs affecting ATM gene function can aid in better understanding of genetic differences in disease susceptibility.
format	article
author	C George Priya Doss B Rajith
author_facet	C George Priya Doss B Rajith
author_sort	C George Priya Doss
title	Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
title_short	Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
title_full	Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
title_fullStr	Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
title_full_unstemmed	Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
title_sort	computational refinement of functional single nucleotide polymorphisms associated with atm gene.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/2b2e9529b5fe4d52812b29cb83d6db12
work_keys_str_mv	AT cgeorgepriyadoss computationalrefinementoffunctionalsinglenucleotidepolymorphismsassociatedwithatmgene AT brajith computationalrefinementoffunctionalsinglenucleotidepolymorphismsassociatedwithatmgene
_version_	1718423524152967168

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

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