Band 3 Missense Mutations and Stomatocytosis Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak英文文献资料.docVIP

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Band 3 Missense Mutations and Stomatocytosis Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak英文文献资料.doc

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Band 3 Missense Mutations and Stomatocytosis Insight into the Molecular Mechanism Responsible for Monovalent Cation Leak英文文献资料

HindawiPublishingCorporation InternationalJournalofCellBiology Volume2011,ArticleID136802,8pages doi:10.1155/2011/136802 ReviewArticle Band3MissenseMutationsandStomatocytosis:Insightintothe MolecularMechanismResponsibleforMonovalentCationLeak DamienBarneaud-Rocca,1,2BernardPellissier, 1,2 FranckBorgese,1,2andH′el`eneGuizouarn 1,2 1 2 InstitutdeBiologieduD′eveloppementetCancer,UMR6543,CNRS,28AvenueValrose,06108NiceCedex2,France InstitutdeBiologieduD′eveloppementetCancer,Universit′edeNice,06108NiceCedex2,France CorrespondenceshouldbeaddressedtoH′el`eneGuizouarn,guizouar@unice.fr Received6April2011;Revised27May2011;Accepted29May2011 AcademicEditor:LarsKaestner Copyright?2011DamienBarneaud-Roccaetal. This is an open access article distributed under the Creative Commons AttributionLicense,whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkis properlycited. Missensemutationsintheerythroidband3protein(AnionExchanger1)havebeenassociatedwithhereditarystomatocytosis. FeaturesofcationleakyredcellscombinedwithfunctionalexpressionofthemutatedproteinledtotheconclusionthattheAE1 pointmutationswereresponsibleforNa + andK + leakthroughaconductivemechanism.Amolecularmechanismexplaining andK .However, mutatedAE1-linkedstomatocytosisinvolveschangesinAE1transportpropertiesthatbecomeleakytoNa + + anotherexplanationsuggeststhatpoint-mutatedAE1couldregulateacationleakthroughothertransporters.Thisshortpaper intendstodiscussthesetwoalternatives. 1.Introduction inkidney,arenalphenotypecanbeassociatedwithSLC4A1 mutations.InthisreviewwewillfocuseonredcellAE1and thereaderinterestedinkidneyAE1isthereforeaddressedto veryexhaustiverecentreviewsonthissubject[12–15]. When a red cell phenotype is associated with SLC4A1 mutationsthesymptomsarehyperhaemolysisandanaemia, icterus, splenomegaly. However, these symptoms may vary widelyinintensity.ItappearsthattheSLC4A1mutationscan bedividedintotwoclassesaccordingtothewaytheyimpair AE1function:(1)thosethatpreventc