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Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
hal.structure.identifierCentre de Bioinformatique de Bordeaux [CBIB]
dc.contributor.authorKARKAR, Slim
hal.structure.identifierCentre de Bioinformatique de Bordeaux [CBIB]
dc.contributor.authorBARRE, Aurelien
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLEY-NGARDIGAL, Seyta
dc.contributor.authorNOTHOF, Sophie
hal.structure.identifierPlateforme Protéome [Bordeaux]
dc.contributor.authorCLAVEROL, Stephane
hal.structure.identifierPlateforme Protéome [Bordeaux]
dc.contributor.authorTOKARSKI, Caroline
dc.contributor.authorTRANI, Jean-Philippe
dc.contributor.authorCHEVALIER, Raphael
dc.contributor.authorBROUCQSAULT, Natacha
dc.contributor.authorEL YAZIDI, Claire
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
dc.contributor.authorMAGDINIER, Frédérique
dc.date.accessioned2025-07-15T11:28:17Z
dc.date.available2025-07-15T11:28:17Z
dc.date.issued2024-10-15
dc.identifier.issn2399-3642en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/207329
dc.description.abstractEnRubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to cause RTS encode transcriptional coactivators with a catalytic lysine acetyltransferase (KAT) activity. Loss of CBP or p300 function results in a deficit in protein acetylation, in particular at histones. In RTS, nothing is known on the consequences of the loss of histone acetylation on the transcriptomic profiles during neuronal differentiation. To address this question, we differentiated induced pluripotent stem cells from RTS patients carrying a recurrent CREBBP mutation that inactivates the KAT domain into cortical and pyramidal neurons. By comparing their acetylome and their transcriptome at different neuronal differentiation time points, we identified 25 specific acetylated histone residues altered in RTS. We also identified the transition between neural progenitors and immature neurons as a critical step of the differentiation process, with a delayed neuronal maturation in RTS. Overall, this study opens new perspectives in the definition of epigenetic biomarkers for RTS, whose methodology could be extended to other chromatinopathies. © The Author(s) 2024.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enEpigenetics
dc.subject.enMolecular medicine
dc.title.enTranscriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
dc.title.alternativeCommun Biolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s42003-024-06939-3en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39407026en_US
bordeaux.journalCommunications Biologyen_US
bordeaux.page1331en_US
bordeaux.volume7en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
dc.rights.ccCC BY-NC-SAen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Communications%20Biology&rft.date=2024-10-15&rft.volume=7&rft.issue=1&rft.spage=1331&rft.epage=1331&rft.eissn=2399-3642&rft.issn=2399-3642&rft.au=VAN-GILS,%20Julien&KARKAR,%20Slim&BARRE,%20Aurelien&LEY-NGARDIGAL,%20Seyta&NOTHOF,%20Sophie&rft.genre=article


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