Evaluation of Candidate Genes from Orphan FEB and GEFS+ Loci by Analysis of Human Brain Gene Expression Atlases 英文参考文献.docVIP

EvaluationofCandidateGenesfromOrphanFEBand GEFS+LocibyAnalysisofHumanBrainGeneExpression Atlases RosarioM.Piro*¤a,IvanMolineris,UgoAla¤b, FerdinandoDiCunto MolecularBiotechnologyCenterandDepartmentofGenetics,BiologyandBiochemistry,UniversityofTorino,Torino,Italy Abstract Febrileseizures,orfebrileconvulsions(FEB),representthemostcommonformofchildhoodseizuresandarebelievedtobe influenced by variations in several susceptibility genes. Most of the associated loci, however, remain ‘orphan’, i.e. the susceptibilitygenestheycontainstillremaintobeidentified.Furtherorphanlocihavebeenmappedforarelateddisorder, genetic(generalized)epilepsywithfebrileseizuresplus(GEFS+). Weshowthatbothspatiallymappedand‘traditional’gene expressiondatafromthehumanbraincanbesuccessfullyemployedtopredictthemostpromisingcandidategenesforFEB andGEFS+,applyourpredictionmethodtotheremainingorphanlocianddiscussthevalidityofthepredictions.Forseveral oftheorphanFEB/GEFS+lociweproposeexcellent,andnotalwaysobvious,candidatesformutationscreeninginorderto aidingainingabetterunderstandingofthegeneticoriginofthesusceptibilitytoseizures. Citation: Piro RM, Molineris I, Ala U, Di Cunto F (2011) Evaluation of Candidate Genes from Orphan FEB and GEFS+ Loci by Analysis of Human Brain Gene ExpressionAtlases.PLoSONE6(8):e23149.doi:10.1371/journal.pone.0023149 Editor:TakeoYoshikawa,RikagakuKenkyuˉshoBrainScienceInstitute,Japan ReceivedApril20,2011;AcceptedJuly7,2011;PublishedAugust17,2011 Copyright:?2011Piroetal.Thisisanopen-accessarticledistributedunderthetermsoftheCreativeCommonsAttributionLicense,whichpermitsunrestricted use,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding:FundingwasprovidedbyRegionePiemonte(toF.D.C.);theFIRB-ItalbionetprogramoftheItalianMinistryofEducation,UniversityandResearch(to F.D.C.);theFondazioneSanPaolo(toF.D.C.);andProgettoNeuroscienze(toF.D.C.).Thefundershadnoroleinstudydesign,datacollectionandanalysis,decision topublish,orpreparationo