Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome 英文参考文献.docVIP

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Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome 英文参考文献.doc

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Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome 英文参考文献

HeterochromaticGenesUndergoEpigeneticChanges andEscapeSilencinginImmunodeficiency,Centromeric Instability,FacialAnomalies(ICF)Syndrome Marie-ElisabethBrun1,EricaLana2,3,IsabelleRivals4,Ge′rardLefranc1,5,PierreSarda6 ,Mireille Claustres2,3,6,Andre′ Me′garbane′7,8,AlbertinaDeSario2,3 * 1CNRSUPR1142,Montpellier,France,2INSERMU827,Montpellier,France,3Universite′ Montpellier1,Montpellier,France,4ESPCIParisTech,Paris,France,5Universite′ Montpellier2,Montpellier,France,6CHRU,Montpellier,France,7Unite′ deGe′ne′tique Me′dicale andLaboratoireAssocie′ INSERMa` l’UMRS910,FacultyofMedicine,Saint JosephUniversity,Beirut,Lebanon,8InstitutJe′ro?meLejeune,Paris,France Abstract Immunodeficiency,CentromericInstability,FacialAnomalies(ICF)syndromeisarareautosomalrecessivedisorderthatis characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In the present study, we have shownthat,inICFlymphoblastsandperipheralblood,juxtacentromericheterochromaticgenesundergodramaticchanges inDNAmethylation,indicatingthattheyarebonafidetargetsoftheDNMT3Bprotein.DNAmethylationinheterochromatic genesdroppedfromabout80%innormalcellstoapproximately30%inICFcells.HypomethylationwasobservedinfiveICF patients and was associated with activation of these silent genes. Although DNA hypomethylation occurred in all the analyzedheterochromaticgenesandinalltheICFpatients,geneexpressionwasrestrictedtosomegenes,everypatient having his own group of activated genes. Histone modifications were preserved in ICF patients. Heterochromatic genes wereassociatedwithhistonemodificationsthataretypicalofinactivechromatin:theyhadlowacetylationonH3andH4 histonesandwereslightlyenrichedinH3K9Me3,bothinICFandcontrols.Thiswasalsothecaseforthoseheterochromatic genestha