Path to Facilitate the Prediction of Functional Amino Acid Substitutions in Red Blood Cell Disorders – A Computational Approach 英文参考文献.docVIP

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Path to Facilitate the Prediction of Functional Amino Acid Substitutions in Red Blood Cell Disorders – A Computational Approach 英文参考文献.doc

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Path to Facilitate the Prediction of Functional Amino Acid Substitutions in Red Blood Cell Disorders – A Computational Approach 英文参考文献

PathtoFacilitatethePredictionofFunctionalAmino AcidSubstitutionsinRedBloodCellDisorders–A ComputationalApproach RajithB,GeorgePriyaDossC* MedicalBiotechnologyDivision,CenterforNanobiotechnology,SchoolofBiosciencesandTechnology,VelloreInstituteofTechnologyUniversity,Vellore,TamilNadu, India Abstract Background:Amajorareaofeffortincurrentgenomicsistodistinguishmutationsthatarefunctionallyneutralfromthose thatcontributetodisease.SingleNucleotidePolymorphisms(SNPs)areaminoacidsubstitutionsthatcurrentlyaccountfor approximatelyhalfoftheknowngenelesionsresponsibleforhumaninheriteddiseases.Asaresult,thepredictionofnon- synonymousSNPs(nsSNPs)thataffectproteinfunctionsandrelatetodiseaseisanimportanttask. Principal Findings: In this study, we performed a comprehensive analysis of deleterious SNPs at both functional and structurallevelintherespectivegenesassociatedwithredbloodcellmetabolismdisordersusingbioinformaticstools.We analyzedthevariantsinGlucose-6-phosphatedehydrogenase(G6PD)andisoformsofPyruvateKinase(PKLRPKM2 )genes responsibleformajorredbloodcelldisorders.DeleteriousnsSNPswerecategorizedbasedonempiricalruleandsupport vectormachinebasedmethodstopredicttheimpactonproteinfunctions.Furthermore,wemodeledmutantproteinsand comparedthemwiththenativeproteinforevaluationofproteinstructurestability. Significance: We argue here that bioinformatics tools can play an important role in addressing the complexity of the underlyinggeneticbasisofRedBloodCelldisorders.Basedonourinvestigation,wereportherethepotentialcandidate SNPs, for future studies in human Red Blood Cell disorders. Current study also demonstrates the presence of other deleterious mutations andalso endorses with in vivo experimental studies. Our approach will present the application of computational tools in understanding functional variation from the perspective of structure, expression, evolution and phenotype. Citation: B R, C GPD (2011) Path to Facilitate the Prediction of Functional Amino Acid Substitutions in