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1000 Titel
  • Rbfox1 Is Expressed in the Mouse Brain in the Form of Multiple Transcript Variants and Contains Functional E Boxes in Its Alternative Promoters
1000 Autor/in
  1. Casanovas, Sonia |
  2. Schlichtholz, Laura |
  3. Mühlbauer, Sophia |
  4. Dewi, Sri |
  5. Schüle, Martin |
  6. Strand, Dennis |
  7. Strand, Susanne |
  8. Zografidou, Lea |
  9. Winter, Jennifer |
1000 Erscheinungsjahr 2020
1000 LeibnizOpen
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-05-05
1000 Erschienen in
1000 Quellenangabe
  • 13:66
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.3389/fnmol.2020.00066 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214753/ |
1000 Ergänzendes Material
  • https://www.frontiersin.org/articles/10.3389/fnmol.2020.00066/full#supplementary-material |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • The RNA-binding protein RBFOX1 is an important regulator of neuron development and neuronal excitability. Rbfox1 is a dosage-sensitive gene and in both mice and humans, decreased expression of Rbfox1 has been linked to neurodevelopmental disorders. Alternative promoters drive expression of Rbfox1 transcript isoforms that encode an identical protein. The tissue- and developmental stage-specific expression of these isoforms, as well as the underlying regulatory mechanisms, are, however, unclear. Here, we set out to capture all of the Rbfox1 transcript isoforms and identify transcriptional mechanisms that regulate brain-specific Rbfox1 expression. Isoform sequencing identified multiple alternative Rbfox1 transcript variants in the mouse cerebral cortex, including transcripts with novel first exons, alternatively spliced exons and 3′-truncations. Quantitative RT-PCR determined the expression of the alternative first exons in the developing cerebral cortex and different subregions of the juvenile brain. Alternative first exons were found to be highly stage- and subregion specific in their expression patterns suggesting that they fulfill specific functions during cortex development and in different brain regions. Using reporter assays we found that the promoter regions of the two first exons E1B and E1C/E1C.1 contain several functional E-boxes. Together, we provide an extensive picture of Rbfox1 isoform expression. We further identified important regulatory mechanisms that drive neuron-specific Rbfox1 expression. Thus, our study forms the basis for further research into the mechanisms that ensure physiological Rbfox1 expression in the brain. It also helps to understand why, in patients with neurodevelopmental disorders deletion of individual RBFOX1 transcript isoforms could affect brain function.
1000 Sacherschließung
lokal alternative splicing
lokal Rbfox1
lokal autism
lokal neurodevelopmental disorders
lokal alternative promoters
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/uri/Q2FzYW5vdmFzLCBTb25pYQ==|https://frl.publisso.de/adhoc/uri/U2NobGljaHRob2x6LCBMYXVyYQ==|https://frl.publisso.de/adhoc/uri/TcO8aGxiYXVlciwgU29waGlh|https://frl.publisso.de/adhoc/uri/RGV3aSwgU3Jp|https://frl.publisso.de/adhoc/uri/U2Now7xsZSwgTWFydGlu|https://frl.publisso.de/adhoc/uri/U3RyYW5kLCBEZW5uaXM=|https://frl.publisso.de/adhoc/uri/U3RyYW5kLCBTdXNhbm5l|https://frl.publisso.de/adhoc/uri/Wm9ncmFmaWRvdSwgTGVh|https://frl.publisso.de/adhoc/uri/V2ludGVyLCBKZW5uaWZlcg==
1000 Label
1000 Förderer
  1. Johannes Gutenberg-Universität Mainz |
  2. Deutsche Forschungsgemeinschaft |
1000 Fördernummer
  1. -
  2. CRC 1193; WI 3837/10-1
1000 Förderprogramm
  1. Focus Program of Translational Neurosciences
  2. -
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Johannes Gutenberg-Universität Mainz |
    1000 Förderprogramm Focus Program of Translational Neurosciences
    1000 Fördernummer -
  2. 1000 joinedFunding-child
    1000 Förderer Deutsche Forschungsgemeinschaft |
    1000 Förderprogramm -
    1000 Fördernummer CRC 1193; WI 3837/10-1
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6422232.rdf
1000 Erstellt am 2020-07-30T13:02:32.120+0200
1000 Erstellt von 122
1000 beschreibt frl:6422232
1000 Bearbeitet von 16
1000 Zuletzt bearbeitet 2022-08-18T07:41:34.740+0200
1000 Objekt bearb. Mon Oct 05 20:16:16 CEST 2020
1000 Vgl. frl:6422232
1000 Oai Id
  1. oai:frl.publisso.de:frl:6422232 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

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