Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome
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 pum...
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| Hauptverfasser: | , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
27 October 2005
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| In: |
Gastroenterology
Year: 1999, Jahrgang: 117, Heft: 3, Pages: 653-660 |
| ISSN: | 1528-0012 |
| DOI: | 10.1016/S0016-5085(99)70459-2 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/S0016-5085(99)70459-2 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0016508599704592 
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| Verfasserangaben: | Hiroyuki Tsujii, Jörg König, Daniel Rost, Birgit Stöckel, Ulrich Leuschner, and Dietrich Keppler |
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| 245 | 1 | 0 | |a Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome |c Hiroyuki Tsujii, Jörg König, Daniel Rost, Birgit Stöckel, Ulrich Leuschner, and Dietrich Keppler |
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| 520 | |a 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 | ||
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