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dc.creatorFeng, Weijunes
dc.creatorKawauchi, Daisukees
dc.creatorKörkel-Qu, Huiqines
dc.creatorAriel Lieberman, Jennaes
dc.creatorJimeno González, Silviaes
dc.creatorCortés Ledesma, Felipees
dc.date.accessioned2017-08-09T08:23:39Z
dc.date.available2017-08-09T08:23:39Z
dc.date.issued2017
dc.identifier.citationFeng, W., Kawauchi, ., Körkel-Qu, H., Ariel Lieberman, J., Jimeno González, S. y Cortés Ledesma, F. (2017). Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. Nature Communications, 8 (14758), 1-14.
dc.identifier.issn2041-1723es
dc.identifier.urihttp://hdl.handle.net/11441/63665
dc.description.abstractMutations in chromatin modifier genes are frequently associated with neurodevelopmental diseases. We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar development. Genetic inactivation of Chd7 in cerebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of granule neuron differentiation, induction of apoptosis and abnormal localization of Purkinje cells, which closely recapitulates known clinical features in the cerebella of CHARGE patients. Combinatory molecular analyses reveal that Chd7 is required for the maintenance of open chromatin and thus activation of genes essential for granule neuron differentiation. We further demonstrate that both Chd7 and Top2b are necessary for the transcription of a set of long neuronal genes in cerebellar granule neurons. Altogether, our comprehensive analyses reveal a mechanism with chromatin remodellers governing brain development via controlling a core transcriptional programme for cell-specific differentiation.es
dc.description.sponsorshipSpanish Government SAF2010-21017, SAF2013-47343-P, SAF2014-55532-Res
dc.description.sponsorshipAndalusian Regional Government P11-CVI-7948es
dc.formatapplication/pdfes
dc.language.isoenges
dc.publisherNature Publishing Groupes
dc.relation.ispartofNature Communications, 8 (14758), 1-14.
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleChd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programmees
dc.typeinfo:eu-repo/semantics/articlees
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessrightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Genéticaes
dc.relation.projectIDSAF2013-47343-Pes
dc.relation.projectIDSAF2014-55532-Res
dc.relation.projectIDSAF2010-21017es
dc.relation.projectIDP11-CVI-7948es
dc.relation.publisherversionhttp://dx.doi.org/10.1038/ncomms14758es
dc.identifier.doi10.1038/ncomms14758es
idus.format.extent15 p.es
dc.journaltitleNature Communicationses
dc.publication.volumen8es
dc.publication.issue14758es
dc.publication.initialPage1es
dc.publication.endPage14es
dc.contributor.funderGobierno de España
dc.contributor.funderJunta de Andalucía

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