Status: Bibliographieeintrag
Standort: ---
Exemplare:
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| Online-Ressource |
Verfasst von: | Tsujii, Hiroyuki [VerfasserIn]  |
| König, Jörg [VerfasserIn]  |
| Rost, Daniel [VerfasserIn]  |
| Keppler, Dietrich [VerfasserIn]  |
Titel: | Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome |
Verf.angabe: | Hiroyuki Tsujii, Jörg König, Daniel Rost, Birgit Stöckel, Ulrich Leuschner, and Dietrich Keppler |
E-Jahr: | 2005 |
Jahr: | 27 October 2005 |
Jahr des Originals: | 1999 |
Umfang: | 8 S. |
Fussnoten: | Available online 27 October 2005 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 23.02.2021 |
Titel Quelle: | Enthalten in: Gastroenterology |
Ort Quelle: | Stanford, Calif. : HighWire Press, 1965 |
Jahr Quelle: | 1999 |
Band/Heft Quelle: | 117(1999), 3, Seite 653-660 |
ISSN Quelle: | 1528-0012 |
Abstract: | Background & Aims: The Dubin-Johnson syndrome is characterized by conjugated hyperbilirubinemia and by impaired secretion of anionic conjugates from hepatocytes into bile. Absence of the multidrug-resistance protein 2 (MRP2; symbol ABCC2), an adenosine triphosphate-dependent conjugate export pump, from the hepatocyte canalicular membrane is the molecular basis of this syndrome. The aim of this study was the elucidation of all exon-intron boundaries of the MRP2 gene as a prerequisite for the analysis of mutations in patients with Dubin-Johnson syndrome. Methods: Exon-intron boundaries of MRP2 were determined, and the amplified exons were screened for mutations. Immunofluorescence microscopy served to localize the MRP2 protein in human liver. Results: The human MRP2 gene is ~45 kilobases long; it contains 32 exons and a high proportion of class 0 introns. In 2 patients with Dubin-Johnson syndrome, we detected a nonsense mutation at codon 1066 and a 6-nucleotide deletion mutation affecting codons 1392-1394. The MRP2 protein was absent from the canalicular membrane of both patients. Conclusions: The mutations detected so far show that various mutations in the MRP2 gene can lead to the Dubin-Johnson syndrome. The exon-intron boundaries established in this article will facilitate the analysis of additional mutations in the MRP2 gene. GASTROENTEROLOGY 1999;117:653-660 |
DOI: | doi:10.1016/S0016-5085(99)70459-2 |
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/10.1016/S0016-5085(99)70459-2 |
| Volltext: https://www.sciencedirect.com/science/article/pii/S0016508599704592 |
| DOI: https://doi.org/10.1016/S0016-5085(99)70459-2 |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 1749142287 |
Verknüpfungen: | → Zeitschrift |
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome / Tsujii, Hiroyuki [VerfasserIn]; 27 October 2005 (Online-Ressource)
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