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dc.contributor.authorBecker, Martin
dc.contributor.authorDevanna, Paolo
dc.contributor.authorFisher, Simon E
dc.contributor.authorVernes, Sonja C
dc.identifier.citationBecker , M , Devanna , P , Fisher , S E & Vernes , S C 2018 , ' Mapping of human FOXP2 enhancers reveals complex regulation ' , Frontiers in Molecular Neuroscience , vol. 11 , 47 .
dc.identifier.otherPURE: 272111393
dc.identifier.otherPURE UUID: 3c987b59-95e2-4a39-82c0-cab5e0c5715d
dc.identifier.otherPubMed: 29515369
dc.identifier.otherPubMedCentral: PMC5826363
dc.identifier.otherScopus: 85043594573
dc.identifier.otherORCID: /0000-0003-0305-4584/work/86538528
dc.descriptionFunding: This work was funded by the Max Planck Society. SCV was also supported by a Marie Curie Career Integration Grant (PCIG12-GA-2012-333978) and a Max Planck Independent Research Group Grant.en
dc.description.abstractMutations of the FOXP2 gene cause a severe speech and language disorder, providing a molecular window into the neurobiology of language. Individuals with FOXP2 mutations have structural and functional alterations affecting brain circuits that overlap with sites of FOXP2 expression, including regions of the cortex, striatum, and cerebellum. FOXP2 displays complex patterns of expression in the brain, as well as in non-neuronal tissues, suggesting that sophisticated regulatory mechanisms control its spatio-temporal expression. However, to date, little is known about the regulation of FOXP2 or the genomic elements that control its expression. Using chromatin conformation capture (3C), we mapped the human FOXP2 locus to identify putative enhancer regions that engage in long-range interactions with the promoter of this gene. We demonstrate the ability of the identified enhancer regions to drive gene expression. We also show regulation of the FOXP2 promoter and enhancer regions by candidate regulators - FOXP family and TBR1 transcription factors. These data point to regulatory elements that may contribute to the temporal- or tissue-specific expression patterns of human FOXP2. Understanding the upstream regulatory pathways controlling FOXP2 expression will bring new insight into the molecular networks contributing to human language and related disorders.
dc.relation.ispartofFrontiers in Molecular Neuroscienceen
dc.rightsCopyright © 2018 Becker, Devanna, Fisher and Vernes. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.en
dc.subjectEnhancer elementsen
dc.subjectRegulation of gene expressionen
dc.subjectLanguage disordersen
dc.subjectQH301 Biologyen
dc.subjectQH426 Geneticsen
dc.titleMapping of human FOXP2 enhancers reveals complex regulationen
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews.School of Biologyen
dc.description.statusPeer revieweden

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