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bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1.doc

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bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1

bfb,aNovelENU-InducedblebsMutantResultingfroma MissenseMutationinFras1 KerryA.Miller1,ChristopherT.Gordon1¤,MeganF.Welfare1,GeorginaCaruana3,JohnF.Bertram3, JohnF.Bateman1,2,PeterG.Farlie1* 1Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia, 2Departments of Paediatrics, Biochemistry and Molecular Biology, UniversityofMelbourne,Parkville,Victoria,Australia,3DepartmentofAnatomyandDevelopmentalBiology,MonashUniversity,Clayton,Victoria,Australia Abstract Fras1isanextracellularmatrixassociatedproteinwithessentialrolesinadhesionofepitheliaandmesenchymeduringearly embryonicdevelopment.TheadhesivefunctionofFras1isachievedthroughinteractionwithagroupofrelatedproteins, Frem1–3,andacytoplasmicadaptorproteinGrip1.Mutationofeachoftheseproteinsresultsincharacteristicepithelial blistering and have therefore become known as ‘‘blebs’’ proteins. Human Fraser syndrome presents with a similar phenotypeandtheblebsmicehavebeeninstrumentalinidentificationofthegeneticbasisofFrasersyndrome.Wehave identifiedanewENU-inducedblebsalleleresultingfromanovelmissensemutationinFras1.Theresultingmousestrain, bloodfilledblisters(bfb),presentswithaclassicblebsphenotypebutdoesnotexhibitembryoniclethalitytypicalofother blebs mutants and in addition, we report novel palate and sternal defects. Analysis of the bfb phenotype confirms the presenceofepithelial-mesenchymaladhesiondefectsbutalsosupportstheemergingroleofblebsproteinsinregulating signallingduringorganogenesis.ThebfbstrainprovidesnewopportunitiestoinvestigatetheroleofFras1indevelopment. Citation:MillerKA,GordonCT,WelfareMF,CaruanaG,BertramJF,etal.(2013)bfb,aNovelENU-InducedblebsMutantResultingfromaMissenseMutationin Fras1.PLoSONE8(10):e76342.doi:10.1371/journal.pone.0076342 Editor:ClaudiaKappen,PenningtonBiomedicalResearchCenter/LSU,UnitedStatesofAmerica ReceivedMay22,2013;AcceptedAugust23,2013;PublishedOctober15,2013 Copyright: ? 2013 Miller et al. This is an open-access article distributed under t