Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder 英文参考文献.docVIP

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Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder 英文参考文献.doc

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Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder 英文参考文献

Disease-AssociatedMutationsDisruptFunctionally ImportantRegionsofIntrinsicProteinDisorder VladimirVacic1,PhineusR.L.Markwick2,3,ChristopherJ.Oldfield4,XiaoyueZhao5¤a,ChadHaynes6¤b , VladimirN.Uversky7,8,LiliaM.Iakoucheva9* 1Department of Computer Science, Columbia University, New York, New York, United States of America, 2Department of Chemistry and Biochemistry, University of CaliforniaSanDiego,LaJolla,California,UnitedStatesofAmerica, 3HowardHughesMedicalInstitute,ChevyChase,Maryland,UnitedStatesofAmerica,4Centerfor ComputationalBiologyandBioinformatics,DepartmentofBiochemistryandMolecularBiology,IndianaUniversitySchoolofMedicine,Indianapolis,Indiana,UnitedStates ofAmerica,5ColdSpringHarborLaboratory,ColdSpringHarbor,NewYork,UnitedStatesofAmerica,6LaboratoryofStatisticalGenetics,TheRockefellerUniversity,New York,NewYork,UnitedStatesofAmerica,7DepartmentofMolecularMedicine,UniversityofSouthFloridaCollegeofMedicine,Tampa,Florida,UnitedStatesofAmerica, 8InstituteforBiologicalInstrumentation,RussianAcademyofSciences,Pushchino,MoscowRegion,Russia,9DepartmentofPsychiatry,UniversityofCaliforniaSanDiego, LaJolla,California,UnitedStatesofAmerica Abstract Theeffectsofdiseasemutationsonproteinstructureandfunctionhavebeenextensivelyinvestigated,andmanypredictors ofthefunctionalimpactofsingleaminoacidsubstitutionsarepubliclyavailable.Themajorityofthesepredictorsarebased onproteinstructureandevolutionaryconservation,followingtheassumptionthatdiseasemutationspredominantlyaffect foldedandconservedproteinregions.However,theprevalenceoftheintrinsicallydisorderedproteins(IDPs)andregions (IDRs)inthehumanproteometogetherwiththeirlackoffixedstructureandlowsequenceconservationraiseaquestion abouttheimpactofdiseasemutationsinIDRs.Here,weinvestigateannotatedmissensediseasemutationsandshowthat 21.7% of them are located within such intrinsically disordered regions. We further demonstrate that 20% of disease mutationsinIDRscauselocaldisorder-to-ordertransitions,whichrepresentsa1.7–2.7