Identification of a novel 2026G → C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome

Journal of Human Genetics

Volumn 48, Issue 8, 2003, Pages 425-429

  Wakusawa, Shinya ^a   Machida, Ikuo ^a   Suzuki, Satoshi ^a   Hayashi, Hisao ^a   Yano, Motoyoshi ^b   Yoshioka, Kentaro ^b  

^a HOKURIKU UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP binding cassette; Dubin Johnson syndrome; Multidrug resistance 2 (MRP2); Mutation; Walker A motif

Indexed keywords

ARGININE DERIVATIVE; GLYCINE DERIVATIVE; MULTIDRUG RESISTANCE PROTEIN 2; NUCLEOTIDE BINDING PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; DNA POLYMORPHISM; DUBIN JOHNSON SYNDROME; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; LIVER CELL; MALE; PROTEIN DOMAIN; RECESSIVE INHERITANCE;

ADULT; CHRONIC DISEASE; FEMALE; HUMANS; JAPAN; JAUNDICE, CHRONIC IDIOPATHIC; MALE; MITOCHONDRIAL PROTEINS; PEDIGREE; POINT MUTATION; RIBOSOMAL PROTEINS; RNA, MESSENGER; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA;

EID: 0141867789     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0052-0     Document Type: Article

References (14)

1. Gao M, Cui HR, Loe DW, Grant CE, Almquist KC, Cole SP, Deeley RG (2000) Comparison of the functional characteristics of the nucleotide binding domains of multidrug resistance protein 1. J Biol Chem 275:13098-13108
2. Hashimoto K, Uchiumi T, Konno T, Ebihara T, Nakamura T, Wada M, Sakisaka S, Maniwa F, Amachi T, Ueda K, Kuwano M (2002) Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubun-Johnson syndrome. Hepatology 36:1236-1245
3. Hou YX, Cui L, Riordan JR, Chang XB (2002) ATP binding to the first nucleotide-binding domain of multidrug resistance protein MRP1 increases binding and hydrolysis of ATP and trapping of ADP at the second domain. J Biol Chem 277:5110-5119
4. Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, Yamamoto K (1998) A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. Biochem Biophys Res Commun 253:454-457
5. Konig J, Nies AT, Cui Y, Keppler D (2003) MRP2 the apical export pump for anionic conjugates. In: Holland IB, Cole SPC, Kuchler K, Higgins CF (eds) ABC proteins: from bacteria to man. Academic Press, London San Diego, pp 423-443
6. Lapinski PE, Neubig RR, Raghavan M (2001) Walker A lysine mutations of TAP1 and TAP2 interfere with peptide translocation but not peptide binding. J Biol Chem 276:7526-7533
7. Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U (2001) Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J Biol Chem 276:36923-36930
8. Paulusma CC, Bosma PJ, Zaman GJ, Bakker CT, Otter M, Scheffer GL, Scheper RJ, Borst P, Oude Elferink RP (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Science 271:1126-1128
9. Paulusma CC, Kool M, Bosma PJ, Scheffer GL, Borg F ter, Scheper RJ, Tytgat GN, Borst P, Baas F, Oude Elferink RP (1997) A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 25:1539-1542
10. Taniguchi K, Wada M, Kohno K, Nakamura T, Kawabe T, Kawakami M, Kagotani K, Okumura K, Akiyama S, Kuwano M (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
11. Tate G, Li M, Suzuki T, Mitsuya T (2002) A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. Genes Genet Syst 77:117-121
12. Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, Adachi Y, Sakisaka S, Kuwano M (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am J Hum Genet 64:739-746
13. Tsujii H, Konig J, Rost D, Stockel B, Leuschner U, Keppler D (1999) Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. Gastroenterology 117:653-660
14. Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, Kimura A, Sakisaka S, Adachi Y, Kuwano M (1998) Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum Mol Genet 7:203-207