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dc.contributor.authorTorres-Ruiz Raul, Raúl 
dc.contributor.authorBenítez-Burraco, Antonio
dc.contributor.authorMartínez-Lage, Marta
dc.contributor.authorRodriguez Perales, Sandra 
dc.contributor.authorGarcía-Bellido, Paloma
dc.date.accessioned2019-07-02T05:30:43Z
dc.date.available2019-07-02T05:30:43Z
dc.date.issued2019-05-02
dc.identifier.citationBMC Med Genet. 2019;20(1):65.es_ES
dc.identifier.issn1471-2350es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7828
dc.description.abstractBACKGROUND: Mutations in the coding region of FOXP2 are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of the region downstream the gene have been associated with cognitive deficits. METHODS: Here, we investigate changes in FOXP2 expression in the SK-N-MC neuroblastoma human cell line after deletion by CRISPR-Cas9 of two enhancers located downstream of the gene. RESULTS: Deletion of any of these two functional enhancers downregulates FOXP2, but also upregulates the closest 3' gene MDFIC. Because this effect is not statistically significant in a HEK 293 cell line, derived from the human kidney, both enhancers might confer a tissue specific regulation to both genes. We have also found that the deletion of any of these enhancers downregulates six well-known FOXP2 target genes in the SK-N-MC cell line. CONCLUSIONS: We expect these findings contribute to a deeper understanding of how FOXP2 and MDFIC are regulated to pace neuronal development supporting cognition, speech and language.es_ES
dc.description.sponsorshipWe thank Daniela Moralli, Dianne Newbury and Sonja C. Vernes for comments to a first version of this manuscript. This project was supported by funds from The University of Oxford (John Fell OUP Research Grant [121/435] awarded to Paloma García-Bellido), the Spanish National Research and Development Plan, Instituto de Salud Carlos III, and FEDER (FIS project no. PI14/01884 to Sandra Rodriguez-Perales), and the Spanish Ministry of Economy and Competitiveness (grant number FFI2016–78034-C2–2-P [AEI/FEDER,UE]) to Antonio Benítez-Burraco). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.es_ES
dc.language.isoenges_ES
dc.publisherBMCes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectCRISPR-genome editinges_ES
dc.subjectChromosomal rearrangementes_ES
dc.subjectFOXP2es_ES
dc.subjectFunctional enhancerses_ES
dc.subjectMDFICes_ES
dc.subjectSpanishes_ES
dc.subjectSpeech and language impairmentes_ES
dc.titleFunctional characterization of two enhancers located downstream FOXP2es_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID31046704es_ES
dc.format.volume20es_ES
dc.format.number1es_ES
dc.format.page65es_ES
dc.identifier.doi10.1186/s12881-019-0810-2es_ES
dc.contributor.funderUniversity of Oxford (Reino Unido)
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderMinisterio de Economía y Competitividad (España)
dc.description.peerreviewedes_ES
dc.identifier.e-issn1471-2350es_ES
dc.relation.publisherversionhttps://doi.org/10.1186/s12881-019-0810-2.es_ES
dc.identifier.journalBMC medical geneticses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Unidades técnicas::Unidad de Citogenética Moleculares_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/FFI2016-78034-C2-2-Pes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PI14/01884es_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
This item is licensed under a: Atribución-NoComercial-CompartirIgual 4.0 Internacional