Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

Morimasa Wada, Satoshi Toh, Ken Taniguchi, Takanori Nakamura, Takeshi Uchiumi, Kimitoshi Kohno, Ichiro Yoshida, Akihiko Kimura, Shotaro Sakisaka, Yukihiko Adachi, Michihiko Kuwano

Research output: Contribution to journalArticle

227 Citations (Scopus)

Abstract

Members of the ATP-binding cassette (ABC) transporter superfamily are mutated to cause diseases that include cystic fibrosis, hyperinsulinemia, adrenoleukodystrophy, Stargardt disease and multidrug resistance. We recently isolated a novel human member of ABC transporter superfamily as the candidate transporter for the glucuronide and glutathione-conjugated antitumor agents, and found it highly homologous to the rat cmoat gene. Consistent with recent findings of defects in the homologous cmoat gene in two rat models of hyperbilirubinemia (TR- and Eisai), we report two deletions and a missense mutation in the active transport family signature region in the gene in patients with hyperbilirubinemia II/Dubin-Johnson syndrome (DJS; MIM 237500), respectively. These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.

Original languageEnglish
Pages (from-to)203-207
Number of pages5
JournalHuman molecular genetics
Volume7
Issue number2
DOIs
Publication statusPublished - Feb 1998

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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