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rSNP_Guide: An integrated database‐tools system for studying SNPs and site‐directed mutations in transcription factor binding sites
Author(s) -
Ponomarenko Julia V.,
Orlova Galina V.,
Merkulova Tatyana I.,
Gorshkova Elena V.,
Fokin Oleg N.,
Vasiliev Gennady V.,
Frolov Anatoly S.,
Ponomarenko Mikhail P.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10116
Subject(s) - biology , dna binding site , genetics , single nucleotide polymorphism , human genome , promoter , gene , computational biology , transcription factor , binding site , dna sequencing , snp , dna , genome , genotype , gene expression
Since the human genome was sequenced in draft, single nucleotide polymorphism (SNP) analysis has become one of the keynote fields of bioinformatics. We have developed an integrated database-tools system, rSNP_Guide (http://wwwmgs.bionet.nsc.ru/mgs/systems/rsnp/), devoted to prediction of transcription factor (TF) binding sites, alterations of which could be associated with disease phenotype. By inputting data on alterations in DNA sequence and in DNA binding pattern of an unknown TF, rSNP_Guide searches for a known TF with alterations in the recognition score calculated on the basis of TF site's sequence and consistent with the input alterations in DNA binding to the unknown TF. Our system has been tested on many relationships between known TF sites and diseases, as well as on site-directed mutagenesis data. Experimental verification of rSNP_Guide system was made on functionally important SNPs in human TDO2and mouse K-ras genes. Additional examples of analysis are reported involving variants in the human gammaA-globin (HBG1), hsp70(HSPA1A), and Factor IX (F9) gene promoters.