A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome.
摘要：
The human Dubin-Johnson syndrome (DJS) is a rare autosomal recessive liver disorder characterized by chronic conjugated hyperbilirubinemia. Patients have impaired hepatobiliary transport of non-bile salt organic anions. A highly similar phenotype has been described for a mutant Wistar rat strain, the transport-deficient (TR - ) rat, which is defective in the canalicular multispecific organic anion transporter (cmoat). This protein mediates adenosine triphosphate-dependent transport of a broad range of endogenous and xenobiotic compounds across the (apical) canalicular membrane of the hepatocyte. The complementary DNA (cDNA) encoding rat cmoat has recently been cloned, and the mutation underlying the defect in TR - rats has been identified. In the present study, we have isolated the human homologue of rat cmoat , human cMOAT , and analyzed the corresponding cDNA from fibroblasts of a DJS patient for mutations. Our results show that a mutation in this gene is the cause of DJS.
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关键词：
Humans Liver Jaundice, Chronic Idiopathic Anion Transport Proteins Antibodies, Monoclonal Base Sequence Tissue Distribution Mutation Amino Acid Sequence Molecular Sequence Data
DOI：
10.1002/hep.510250635
被引量：
年份：
1997
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万方医学
掌桥科研
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