Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP- binding-cassette region in Dubin-Johnson syndrome

American Journal of Human Genetics

Volumn 64, Issue 3, 1999, Pages 739-746

  Toh, Satoshi ^a   Wada, Morimasa ^a   Uchiumi, Takeshi ^a   Inokuchi, Akihiko ^a   Makino, Yoshinari ^b   Horie, Yutaka ^c   Adachi, Yukihiko ^d   Sakisaka, Shotaro ^e   Kuwano, Michihiko ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b SHIMANE UNIVERSITY   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CARRIER PROTEIN; MULTIDRUG RESISTANCE PROTEIN; ORGANIC ANION TRANSPORTER; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DUBIN JOHNSON SYNDROME; EXON; FEMALE; GENE AMPLIFICATION; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; HUMAN; HYPERBILIRUBINEMIA; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0033361943     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302292     Document Type: Article

References (34)

1. Allikmers R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, et al (1997) A phororeceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
2. Breathnach R, Chambon P (1981) Organization and expression of eucaryotic split genes coding for proteins. Annu Rev Biochem 50:349-383
3. Büchler M, König J, Brom M, Kartenbeck J, Spring H, Horie T, Keppler D (1996) cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. J Biol Chem 271:15091-15098
4. Cole SP, Bhardwaj G, Gerlach JH, Mackie JE, Grant CE, Almquist KC, Stewart AJ, et al (1992) Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell. Science 258:1650-1654
5. Deeley RG, Cole SP (1997) Function, evolution and structure of multidrug resistance protein (MRP). Semin Cancer Biol 8:193-204
6. Dörk T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, et al (1994) Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94:533-542
7. Dubin IN, Johnson FB (1954) Chronic idiopathic jaundice with unidentified pigment in liver cells: new clinico-pathologic entity with report of 12 cases. Medicine 33:155-197
8. Farrell GC (1997) Drug-induced hepatic injury. J Gastroenterol Hepatol 12:S242-S250
9. Frank M, Doss M, de Carvalho DG (1990) Diagnostic and pathogenetic implications of urinary coproporphyrin excretion in the Dubin-Johnson syndrome. Hepatogastroenterology 37:147-151
10. Gottesman MM, Hrycyna CA, Schoenlein PV, Germann UA, Pastan I (1995) Generic analysis of the multidrug transporter. Annu Rev Genet 29:607-649
11. Grant CE, Kurz EU, Cole SP, Deeley RG (1997) Analysis of the intron-exon organization of the human multidrug-resistance protein gene (MRP) and alternative splicing of its mRNA. Genomics 45:368-378
12. Higgins CF (1992) ABC transporters: from microorganisms to man, Annu Rev Cell Biol 8:67-113
13. 2 terminus. J Biol Chem 272:23623-23630
14. Ito K, Suzuki H, Hirohashi T, Kume K, Shimizu T, Sugiyama Y (1997) Molecular cloning of canalicular multispecifk organic anion transporter defective in EHBR. Am J Physiol 272:G16-G22
15. Kartenbeck J, Leuschner U, Mayer R, Keppler D (1996) Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. Hepatology 23:1061-1066
16. Keppler D, Leier I, Jedlitschky G (1997) Transport of glutathione conjugates and glucuronides by the multidrug resistance proteins MRP1 and MRP2. Biol Chem 378:787-791
17. Kitamura T, Jansen P, Hardenbrook C, Kamimoto Y, Gatmaitan Z, Arias IM (1990) Defective ATP-dependent bile canalicular transport of organic anions in mutant (TR ) rats with conjugated hyperbilirubinemia. Proc Natl Acad Sci USA 87:3557-3561
18. Kondo T, Kazuo K, Ohtsuka Y, Yanagisawa W, Shiomura T (1974) Clinical and genetic studies on Dubin-Johnson syndrome in a cluster area in Japan. Jpn J Hum Genet 18: 378-392
19. Kool M, de Haas M, Scheffer GL, Scheper RJ, van Eijk MJ, Juijn JA, Baas F, et al (1997) Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines. Cancer Res 57:3537-3547
20. Loe DW, Almquist KC, Deeley RG, Cole SP (1996) Multidrug resistance protein (MRP)-mediated transport of leukotriene C4 and chemotherapeutic agents in membrane vesicles: demonstration of glutathione-dependent vincristine transport. J Biol Chem 271:9675-9682
21. Oude Elferink RPJ, Meijer DK, Kuipers F, Jansen PL, Groen AK, Groothuis GM (1995) Hepatobiliary secretion of organic compounds: molecular mechanisms of membrane transport. Biochim Biophys Acta 1241:215-268
22. Oude Elferink RPJ, Ottenhoff R, Liefting WG, Schoemaker B, Groen AK, Jansen PL (1990) ATP-dependent efflux of GSSG and GS-conjugate from isolated rat hepatocytes. Am J Physiol 258:G699-G706
23. Paulusma CC, Bosma PJ, Zaman GJ, Bakker CT, Otter M, Scheffer GL, Scheper RJ, et al (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271:1126-1128
24. Paulusma CC, Kool M, Bosnia PJ, Scheffer GL, Terborg F, Scheper RJ, Tytgat G, et al (1997) A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 25: 1539-1542
25. Sasabe H, Tsuji A, Sugiyama Y (1998) Carrier-mediated mechanism for the biliary excretion of the quinolone antibiotic grepafloxacin and its glucuronide in rats. J Pharmacol Exp Ther 284:1033-1039
26. Shani M, Seligsohn U, Gilon E, Sheba C, Adam A (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. QJM 39:549-567
27. Sprinz H, Nelson RS (1954) Persistent nonhemolytic hyperbilirubinemia associated with lipochrome-like pigment in liver cells: report of four cases. Ann Intern Med 41:952-962
28. Taguchi Y, Kino K, Morishima M, Komano T, Kane SE, Ueda K (1997) Alteration of substrate specificity by mutations at the His61 position in predicted transmembrane domain 1 of human MDR1/P-glycoprotein. Biochemistry 36: 8883-8889
29. Takino T, Takahashi T, Okuno T (1977) Clinical study of the constitutional hyperbilirubinemia in Japan: a nationwide survey between 1970 and 1974 (in Japanese). Nippon Shokakibyo Gakkai Zasshi 74:1518-1528
30. Taniguchi K, Wada M, Kohno K, Nakamura T, Kawabe T, Kawakami M, Kagotani K, et al ( 1996) A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation. Cancer Res 56: 4124-4129
31. Tusnady GE, Bakos E, Varadi A, Sarkadi B (1997) Membrane topology distinguishes a subfamily of the ABC (ABC) transporters. FEBS Lett 402:1-3
32. Vogel F, Motulsky AG (1997) Human genetics: problems and approaches. Springer-Verlag, Berlin
33. Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, et al (1998) Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum Mol Genet 7:203-207
34. Welsh MJ, Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73: 1251-1254