Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor Implications for Mutation Screening 英文参考文献.docVIP

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Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor Implications for Mutation Screening 英文参考文献.doc

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Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor Implications for Mutation Screening 英文参考文献

Disease-Causing7.4kbCis-RegulatoryDeletion DisruptingConservedNon-CodingSequencesandTheir InteractionwiththeFOXL2Promotor:Implicationsfor MutationScreening BarbaraD’haene1.,CatiaAttanasio2.,DianeBeysen1.,Jose′eDostie3,EdmondLemire4 ,Philippe Bouchard5,MichaelField6,KristieJones7,BirgitLorenz8,Bjo¨rnMenten1,KarenBuysse1,FilipPattyn1, MarcFriedli2,CatherineUcla2,ColetteRossier2,CarineWyss2,FrankSpeleman1,AnneDePaepe1 ,Job Dekker3,StylianosE.Antonarakis2,ElfrideDeBaere1* 1Center forMedicalGenetics,GhentUniversity Hospital, Ghent,Belgium, 2Department ofGeneticMedicineandDevelopment, UniversityofGenevaMedicalSchool, Geneva,Switzerland, 3PrograminGeneFunctionandExpression andDepartmentofBiochemistryandMolecularPharmacology, UniversityofMassachusettsMedical School,Worcester,Massachusetts,UnitedStatesofAmerica,4DivisionofMedicalGenetics,RoyalUniversityHospital,Saskatoon,Saskatchewan,Canada,5Reproductive Endocrine Unit, Ho?pital Saint-Antoine, Paris, France, 6Royal North Shore Hospital, Sydney, Australia, 7Department of Clinical Genetics, The Children’s Hospital at Westmead,Westmead,Australia,8DepartmentofOphthalmology,Justus-Liebig-UniversityGiessen,UniversitaetsklinikumGiessenundMarburgGmbHGiessenCampus, Giessen,Germany Abstract Todate,thecontributionofdisruptedpotentiallycis-regulatoryconservednon-codingsequences(CNCs)tohumandisease ismostlikelyunderestimated,asnosystematicscreensforputativedeleteriousvariationsinCNCshavebeenconducted.As amodelformonogenicdiseasewestudiedtheinvolvementofgeneticchangesofCNCsinthecis-regulatorydomainof FOXL2 in blepharophimosis syndrome (BPES). Fifty-seven molecularly unsolved BPES patients underwent high-resolution copynumberscreeningandtargetedsequencingofCNCs.Apartfromthreelargerdistantdeletions,adenovodeletionas small as 7.4kb was found at 283kb 59 to FOXL2. The deletion appeared to be triggered by an H-DNA-induced double- stranded break (DSB). In addition, it disrupts a novel long non-coding RNA (ncRNA) PISRT1 and 8 CNCs. Th