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Verfasst von:Dröge, Carola [VerfasserIn]   i
 Wenning, Daniel [VerfasserIn]   i
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

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