Abstract
The three isoforms of Nitric Oxide Synthase (NOS) synthesize free radical nitric oxide (NO), which has numerous protein targets in human body. Several vital processes are regulated and/or mediated by NO in nervous, immune and cardiovascular systems. Hence, alteration on NO level leads to pathological conditions in particular cells or tissues. Prior to conduction population genetic research, listing and identifying the most deleterious SNPs that may have strong relation with a particular disease is crucial. Hence, the aim of this study was to determine the functional non-synonymous Single Nucleotide Polymorphisms (nsSNPs) with emphasis on the exon regions for the neuronal, Inducible and Endothelial Nitric Oxide (nNOS, iNOS, eNOS) genes. Data from dbSNP database were functionally and structurally analyzed using different bioinformatics softwares. In the exon region, 222 SNP (from total 5293), 203 SNPs (from 1441) and 195 SNP (from 782) in nNOS, iNOS and eNOS, respectively were analyzed. Results of SIFT and PolyPhen predicted six SNPs in nNOS, iNOS, and seven SNPs in eNOS genes as damaging. Whereas, I-mutant server showed decrease stability of proteins encoded by them. Then CPH modeler 3.2 and Chimera software version 1.2 showed structure of these proteins. Further, Proscan version 1.7 server, Promotor 2.0 prediction server and TSSG prediction program identified cis regulatory elements in the above genes. Interestingly, most deleterious SNPs found in this study have not reported yet, especially in eNOS.
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