ArticleAmerican journal of human genetics1999
Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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45 citing papers in PubMed, 233 citations in OpenAlex.
- Urinary coproporphyrin I/(I + III) ratio as a surrogate for MRP2 or other transporter activities involved in methotrexate clearance.British journal of clinical pharmacology · 2014Trial
- Dubin-Johnson and Rotor Syndromes: A Review and Update of Pathophysiological Mechanisms.Journal of clinical and translational hepatology · 2026Review
- Cholestasis in hepatitis E virus infection.World journal of hepatology · 2025Article
- An Incidental Finding of an Indigo-Blue Liver in a Patient With Dubin-Johnson Syndrome Confirmed via Genetic Testing.Cureus · 2025Article
- Transport mechanism of human bilirubin transporter ABCC2 tuned by the inter-module regulatory domain.Nature communications · 2024Article
- Genotype-Phenotype Association inInternational journal of molecular sciences · 2022Article
- Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia-A narrative review.United European gastroenterology journal · 2022Review
- Endogenous Coproporphyrin I and III are Altered in Multidrug Resistance-Associated Protein 2-Deficient (TRJournal of pharmaceutical sciences · 2021Article
- Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.BMC pediatrics · 2020Article
- Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.World journal of clinical cases · 2019Article
- [Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Enantioselective Drug Recognition by Drug Transporters.Molecules (Basel, Switzerland) · 2018Review
- PBPK Modeling of Coproporphyrin I as an Endogenous Biomarker for Drug Interactions Involving Inhibition of Hepatic OATP1B1 and OATP1B3.CPT: pharmacometrics & systems pharmacology · 2018Article
- Beyond Competitive Inhibition: Regulation of ABC Transporters by Kinases and Protein-Protein Interactions as Potential Mechanisms of Drug-Drug Interactions.Drug metabolism and disposition: the biological fate of chemicals · 2018Review
- Alternative Splicing: Expanding Diversity in Major ABC and SLC Drug Transporters.The AAPS journal · 2017Review
- In Vitro Transport Activity and Trafficking of MRP2/ABCC2 Polymorphic Variants.Pharmaceutical research · 2017Article
- Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants inChinese medical journal · 2017Article
- Article
- Treatment for tuberculosis in a patient with Dubin-Johnson syndrome.BMJ case reports · 2015Article
- Drug Transporters and Na+/H+ Exchange Regulatory Factor PSD-95/Drosophila Discs Large/ZO-1 Proteins.Pharmacological reviews · 2015Review
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (MRP2/cMOAT) in patients with DJS have suggested that the gene defects are responsible for DJS. In this study, we determined the exon/intron structure of the human MRP2/cMOAT gene and further characterized mutations in patients with DJS. The human MRP2/cMOAT gene contains 32 exons, and it has a structure that is highly conserved with that of another ATP-binding-cassette gene, that for a multidrug resistance-associated protein. We then identified three mutations, including two novel ones. All mutations identified to date are in the cytoplasmic domain, which includes the two ATP-binding cassettes and the linker region, or adjacent putative transmembrane domain. Our results confirm that MRP2/cMOAT is the gene responsible for DJS. The finding that mutations are concentrated in the first ATP-binding-cassette domain strongly suggests that a disruption of this region is a critical route to loss of function.
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