Disheveled Hair and Ear (Dhe), a Spontaneous Mouse Lmna Mutation Modeling Human Laminopathies 英文参考文献.docVIP

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Disheveled Hair and Ear (Dhe), a Spontaneous Mouse Lmna Mutation Modeling Human Laminopathies 英文参考文献.doc

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Disheveled Hair and Ear (Dhe), a Spontaneous Mouse Lmna Mutation Modeling Human Laminopathies 英文参考文献

DisheveledHairandEar(Dhe),aSpontaneousMouse LmnaMutationModelingHumanLaminopathies PaulR.Odgren1,CraigH.Pratt2,4,CaroleA.MacKay1¤a,AprilMason-Savas1,MichelleCurtain3,4 ,Lindsay Shopland2,4,TsutomuIchicki4¤b,JohnP.Sundberg4,LeahRaeDonahue3,4* 1DepartmentofCellBiology,UniversityofMassachusettsMedicalSchool,Worcester,Massachusetts,UnitedStatesofAmerica,2InstituteforMolecularBiophysics,Bar Harbor,Maine,UnitedStatesofAmerica,3GeneticResourceScience,BarHarbor,Maine,UnitedStatesofAmerica,4TheJacksonLaboratory,BarHarbor,Maine,United StatesofAmerica Abstract Background: Investigations of naturally-occurring mutations in animal models provide important insights and valuable disease models. Lamins A and C, along with lamin B, are type V intermediate filament proteins which constitute the proteinaceousboundaryofthenucleus.LMNAmutationsinhumanscauseawiderangeofphenotypes,collectivelytermed laminopathies.Toidentifythemutationandinvestigatethephenotypeofaspontaneous,semi-dominantmutationthatwe havenamedDisheveledhairandear(Dhe),whichcausesasparsecoatandsmallexternalearsinheterozygotesandlethality inhomozygotesbypostnatalday10. Findings:GeneticmappingidentifiedapointmutationintheLmnagene,causingasingleaminoacidchange,L52R,inthe coiledcoilroddomainoflaminAandCproteins.CranialsuturesinDhe/+micefailedtoclose.Geneexpressionforcollagen types I and III in sutures was deficient. Skulls were small and disproportionate. Skeletons of Dhe/+ mice were hypomineralized and total body fat was deficient in males. In homozygotes, skin and oral mucosae were dysplastic and ulcerated.Nuclearmorphometryofculturedcellsrevealedgenedose-dependentblebbingandwrinkling. Conclusion:Dhemiceshouldprovideausefulnewmodelforinvestigationsofthepathogenesisoflaminopathies. Citation:OdgrenPR,PrattCH,MacKayCA,Mason-SavasA,CurtainM,etal.(2010)DisheveledHairandEar(Dhe),aSpontaneousMouseLmnaMutationModeling HumanLaminopathies.PLoSONE5(4):e9959.doi:10.1371/journal.pone.0009959 Editor:GuillaumeDalmasso,EmoryUniversity,U