Status: Bibliographieeintrag
Standort: ---
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| Online-Ressource |
Verfasst von: | Dröge, Carola [VerfasserIn]  |
| Wenning, Daniel [VerfasserIn]  |
Titel: | Exon-skipping and mRNA decay in human liver tissue |
Titelzusatz: | molecular consequences of pathogenic bile salt export pump mutations |
Verf.angabe: | Carola Dröge, Heiner Schaal, Guido Engelmann, Daniel Wenning, Dieter Häussinger & Ralf Kubitz |
E-Jahr: | 2016 |
Jahr: | 26 April 2016 |
Umfang: | 11 S. |
Fussnoten: | Gesehen am 06.11.2019 |
Titel Quelle: | Enthalten in: Scientific reports |
Ort Quelle: | [London] : Macmillan Publishers Limited, part of Springer Nature, 2011 |
Jahr Quelle: | 2016 |
Band/Heft Quelle: | 6(2016) Artikel-Nummer 24827, 11 Seiten |
ISSN Quelle: | 2045-2322 |
Abstract: | The bile salt export pump BSEP mediates bile formation. Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically. We examined liver tissues from two PFIC-2 patients compound heterozygous for the splice-site mutation c.150 + 3A > C and either c.2783_2787dup5 resulting in a frameshift with a premature termination codon (child 1) or p.R832C (child 2). Splicing was analysed with a minigene system and mRNA sequencing from patients’ livers. Protein expression was shown by immunofluorescence. Using the minigene, c.150 + 3A > C causes complete skipping of exon 3. In liver tissue of child 1, c.2783_2787dup5 was found on DNA but not on mRNA level, implying nonsense-mediated mRNA decay (NMD) when c.2783_2787dup5 is present. Still, BSEP protein as well as mRNA with and without exon 3 were detectable and can be assigned to the c.150 + 3A > C allele. Correctly spliced transcripts despite c.150 + 3A > C were also confirmed in liver of child 2. In conclusion, we provide evidence (1) for effective NMD due to a BSEP frameshift mutation and (2) partial exon-skipping due to c.150 + 3A > C. The results illustrate that the extent of exon-skipping depends on the genomic and cellular context and that regulation of splicing may have therapeutic potential. |
DOI: | doi:10.1038/srep24827 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1038/srep24827 |
| Volltext: https://www.nature.com/articles/srep24827 |
| DOI: https://doi.org/10.1038/srep24827 |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 1681193884 |
Verknüpfungen: | → Zeitschrift |
Exon-skipping and mRNA decay in human liver tissue / Dröge, Carola [VerfasserIn]; 26 April 2016 (Online-Ressource)
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