Literature DB >> 18563462

Applications of computational algorithm tools to identify functional SNPs.

C George Priya Doss1, C Sudandiradoss, R Rajasekaran, Parikshit Choudhury, Priyanka Sinha, Pragnya Hota, Udit Prakash Batra, Sethumadhavan Rao.   

Abstract

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variations in humans. Understanding the functions of SNPs can greatly help to understand the genetics of the human phenotype variation and especially the genetic basis of human complex diseases. The method to identify functional SNPs from a pool, containing both functional and neutral SNPs is challenging by experimental protocols. To explore possible relationships between genetic mutation and phenotypic variation, different computational algorithm tools like Sorting Intolerant from Tolerant, Polymorphism Phenotyping, UTRscan, FASTSNP, and PupaSuite were used for prioritization of high-risk SNPs in coding region (exonic nonsynonymous SNPs) and noncoding regions (intronic and exonic 5' and 3'-untranslated region (UTR) SNPs). In this work, we have analyzed the SNPs that can alter the expression and function of transcriptional factor TP53 as a pipeline and for providing a guide to experimental work. We identified the possible mutations and proposed modeled structure for the mutant proteins and compared them with the native protein. These nsSNPs play a critical role in cancer association studies aiming to explain the disparity in cancer treatment responses as well as to improve the effectiveness of the cancer treatments. Our results endorse the study with in vivo experimental protocols.

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Year:  2008        PMID: 18563462     DOI: 10.1007/s10142-008-0086-7

Source DB:  PubMed          Journal:  Funct Integr Genomics        ISSN: 1438-793X            Impact factor:   3.410


  28 in total

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Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  UTRdb and UTRsite: specialized databases of sequences and functional elements of 5' and 3' untranslated regions of eukaryotic mRNAs. Update 2002.

Authors:  Graziano Pesole; Sabino Liuni; Giorgio Grillo; Flavio Licciulli; Flavio Mignone; Carmela Gissi; Cecilia Saccone
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3.  PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.

Authors:  Lucía Conde; Juan M Vaquerizas; Javier Santoyo; Fátima Al-Shahrour; Sergio Ruiz-Llorente; Mercedes Robledo; Joaquín Dopazo
Journal:  Nucleic Acids Res       Date:  2004-07-01       Impact factor: 16.971

4.  A novel single-nucleotide polymorphism in the 3'-untranslated region of the human dihydrofolate reductase gene with enhanced expression.

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5.  Human gene mutation database-a biomedical information and research resource.

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Review 6.  mRNA translation: influence of the 5' and 3' untranslated regions.

Authors:  N Sonenberg
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Review 7.  Cytokine and cytokine receptor polymorphisms in infectious disease.

Authors:  S J van Deventer
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8.  Human non-synonymous SNPs: server and survey.

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Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971

9.  Divergent evolution of human p53 binding sites: cell cycle versus apoptosis.

Authors:  Monica M Horvath; Xuting Wang; Michael A Resnick; Douglas A Bell
Journal:  PLoS Genet       Date:  2007-06-15       Impact factor: 5.917

10.  NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis.

Authors:  Erik Lindahl; Cyril Azuara; Patrice Koehl; Marc Delarue
Journal:  Nucleic Acids Res       Date:  2006-07-01       Impact factor: 16.971

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  15 in total

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4.  Advances in translational bioinformatics: computational approaches for the hunting of disease genes.

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Journal:  Toxicol Sci       Date:  2010-01-27       Impact factor: 4.849

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

Authors:  C George Priya Doss; B Rajith
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8.  Single nucleotide polymorphisms of Toll-like receptor 4 decrease the risk of development of hepatocellular carcinoma.

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9.  Association between variations in cell cycle genes and idiopathic pulmonary fibrosis.

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10.  Toll-like receptor (TLR2 and TLR4) polymorphisms and chronic obstructive pulmonary disease.

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