Foxf2 A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene 英文参考文献.docVIP

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Foxf2 A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene 英文参考文献.doc

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Foxf2 A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene 英文参考文献

Foxf2:ANovelLocusforAnteriorSegmentDysgenesis AdjacenttotheFoxc1Gene RichardMcKeone1¤a,HelenaVieira2¤b,KevinGregory-Evans3,CherylY.Gregory-Evans3,PaulDenny1* 1MRCMammalianGeneticsUnit,Harwell,Oxford,UnitedKingdom,2DepartmentofCellandMolecularBiology,FacultyofMedicine,ImperialCollegeLondon,London, UnitedKingdom,3DepartmentofOphthalmologyandVisualSciences,UniversityofBritishColumbia,Vancouver,BritishColumbia,Canada Abstract Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiationofthemesenchymalcellsduringtheformationoftheeye’santeriorsegment.Theseabnormalitiesresultin multipletissuedefectsaffectingtheiris,corneaanddrainagestructuresoftheiridocornealangleincludingtheciliarybody, trabecularmeshworkandSchlemm’scanal.Insomecases,abnormalASDdevelopmentleadstoglaucoma,whichisusually associatedwithincreasedintraocularpressure.Haploinsufficiencythroughmutationorchromosomaldeletionofthehuman FOXC1transcriptionfactorgeneorduplicationsofthe6p25regionisassociatedwithaspectrumofocularabnormalities includingASD.However,mappingdataandphenotypeanalysisofhumandeletionssuggeststhatanadditionallocusfor thisconditionmaybepresentinthesamechromosomalregionasFOXC1.DHPLCscreeningofENUmutagenisedmouse archival tissue revealed five novel mouse Foxf2 mutations. Re-derivation of one of these (the Foxf2W174R mouse lineage) resultedinheterozygotemicethatexhibitedthinningoftheirisstroma,hyperplasiaofthetrabecularmeshwork,smallor absentSchlemm’scanalandareductionintheiridocornealangle.HomozygousE18.5miceshowedabsenceofciliarybody projections,demonstratingacriticalroleforFoxf2inthedevelopingeye.ThesedataprovideevidencethattheFoxf2gene, separatedfromFoxc1bylessthan70kbofgenomicsequence(250kbinhumanDNA),mayexplainhumanabnormalitiesin somecasesofASDwhereFOXC1hasbeenexcludedgenetically. Citation:McKeoneR,VieiraH,Gregory-EvansK,Gregory-EvansCY,DennyP(2011)Foxf2:ANovelLocusforAnteriorSegmentDysgenesisAdjacenttotheFoxc1 Gene.PLoSONE6