ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2 英文参考文献.docVIP

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ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2 英文参考文献.doc

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ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2 英文参考文献

ENUMutagenesisRevealsaNovelPhenotypeofReduced LimbStrengthinMiceLackingFibrillin2 GaynorMiller1,MonicaNeilan1,RuthChia2,NabeiaGheryani1,NatalieHolt3,AnnabelleCharbit2 ,Sara Wells4,ValterTucci4¤,ZuzanneLalanne4,PaulDenny4,ElizabethM.C.Fisher2,MichaelCheeseman4, GrahamN.Askew3,T.NeilDear1,4,5* 1MammalianGeneticsofDiseaseUnit,SchoolofMedicine,UniversityofSheffield,Sheffield,UnitedKingdom,2DepartmentofNeurodegenerativeDisease,UCLInstitute of Neurology, London, United Kingdom, 3Institute of Integrative and Comparative Biology, University of Leeds, Leeds, United Kingdom, 4Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, United Kingdom, 5Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s UniversityHospital,Leeds,UnitedKingdom Abstract Background: Fibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin. Marfan’s syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and FBN2 respectively. Patients with both conditionsoftenpresentwithspecificmuscleatrophyorweakness,yetthishasnotbeenreportedinthemousemodels.In thecaseofFbn1,thisisduetoperinatallethalityofthehomozygousnullmicemakingmeasurementsofstrengthdifficult.In thecaseofFbn2,fourdifferentmutantalleleshavebeendescribedinthemouseandinallcasessyndactylywasreportedas thedefiningphenotypicfeatureofhomozygotes. Methodology/PrincipalFindings:Aspartofalarge-scaleN-ethyl-N-nitrosourea(ENU)mutagenesisscreen,weidentifieda mouse mutant, Mariusz, which exhibited muscle weakness along with hindlimb syndactyly. We identified an amber nonsense mutation in Fbn2 in this mouse mutant. Examination of a previously characterised Fbn2-null mutant, Fbn2fp, identifiedasimilarmuscleweaknessphenotype.ThetwoFbn2mutantallelescomplementeachotherconfirmingthatthe weaknessis theresult of alack of Fbn2activity.Skeletal muscl