A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature

Hepatology

Volumn 49, Issue 4, 2009, Pages 1218-1227

  Delaunay, Jean Louis ^a,b   Durand Schneider, Anne Marie ^a,b   Delautier, Danièle ^a,b   Rada, Alegna ^a,b,d   Gautherot, Julien ^a,b   Jacquemin, Emmanuel ^a,c   Aït Slimane, Tounsia ^a,b   Maurice, Michèle ^a,b  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c BICÊTRE HOSPITAL   (France)

^d UNIVERSIDAD CENTRAL DE VENEZUELA   (Venezuela)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; MULTIDRUG RESISTANCE PROTEIN 1; MULTIDRUG RESISTANCE PROTEIN 3; NUCLEOTIDE BINDING PROTEIN; ABCB1 PROTEIN, HUMAN; DIAGNOSTIC AGENT; GLYCOPROTEIN P;

ANIMAL CELL; ARTICLE; CANCER CELL CULTURE; CELL MEMBRANE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE CONSTRUCT; GENE EXPRESSION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; INTRAHEPATIC BILE DUCT; INTRAHEPATIC CHOLESTASIS; LOW TEMPERATURE PROCEDURES; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE BINDING SITE; PLASMID; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; COLD; DOG; FEMALE; GENETICS; METABOLISM; MOLECULAR GENETICS; TUMOR CELL LINE;

AMINO ACID SEQUENCE; ANIMALS; BILE CANALICULI; CELL LINE, TUMOR; CELL MEMBRANE; CHOLESTASIS, INTRAHEPATIC; COLD TEMPERATURE; DOGS; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION; GOLGI APPARATUS; GREEN FLUORESCENT PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; P-GLYCOPROTEIN; P-GLYCOPROTEINS; PROTEIN FOLDING; PROTEIN INTERACTION DOMAINS AND MOTIFS;

EID: 65449136273     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.22775     Document Type: Article

References (31)

1. de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998;95:282-287.
2. Jacquemin E. Progressive familial intrahepatic cholestasis: Genetic basis and treatment. Clin Liver Dis 2000;4:753-763.
3. Oude Elferink RP, Paulusma CC, Groen AK. Hepatocanalicular transport defects: Pathophysiologic mechanisms of rare diseases. Gastroenterology 2006;130:908-925.
4. Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-1458.
5. Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L, et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993;75:451-462.
6. Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999;353:210-211.
7. Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: One gene for three diseases. Semin Liver Dis 2001;21: 551-562.
8. Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001;120:1459-1467.
9. Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003;125:452-459.
10. Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004;14:91-102.
11. Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003;124:1037-1042.
12. Lang C, Meier Y, Stieger B, Beuers U, Lang T, Kerb R, et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007;17:47-60.
13. Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008;135:131-141.
14. Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P. The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver. EMBO J 1987;6:3325-3331.
15. Smit JJ, Schinkel AH, Mol CA, Majoor D, Mooi WJ, Jongsma AP, et al. Tissue distribution of the human MDR3 P-glycoprotein. Lab Invest 1994; 71:638-649.
16. Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007;15:1230-1238.
17. Mbongo-Kama E, Harnois F, Mennecier D, Leclercq E, Burnat P, Ceppa F. MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: An update. Ann Hepatol 2007;6:143-149.
18. Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, et al. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis 2008;40:366-370.
19. Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, et al. Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4. HEPATOLOGY2007;46:188-199.
20. Sai Y, Nies AT, Arias IM. Bile acid secretion and direct targeting of mdr1-green fluorescent protein from Golgi to the canalicular membrane in polarized WIF-B cells. J Cell Sci 1999;112:4535-4545.
21. van Til NP, Heutinck KM, van der Rijt R, Paulusma CC, van Wijland M, Markusic DM, et al. Alteration of viral lipid composition by expression of the phospholipid floppase ABCB4 reduces HIV vector infectivity. Retrovirology 2008;5:14.
22. Bello V, Goding JW, Greengrass V, Sali A, Dubljevic V, Lenoir C, et al. Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis. Mol Biol Cell 2001;12:3004-3015.
23. Polli JW, Wring SA, Humphreys JE, Huang L, Morgan JB, Webster LO, et al. Rational use of in vitro P-glycoprotein assays in drug discovery. J Pharmacol Exp Ther 2001;299:620-628.
24. Aït Slimane T, Trugnan G, Van IJzendoorn SC, Hoekstra D. Raft-mediated trafficking of apical resident proteins occurs in both direct and transcytotic pathways in polarized hepatic cells: Role of distinct lipid microdomains. Mol Biol Cell 2003;14:611-624.
25. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992;358:761-764.
26. Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: Evidence for a defect in protein trafficking. Hum Mol Genet 2000;9:1209-1217.
27. Buschman E, Gros P. Functional analysis of chimeric genes obtained by exchanging homologous domains of the mouse mdr1 and mdr2 genes. Mol Cell Biol 1991;11:595-603.
28. Ulloa-Aguirre A, Janovick JA, Brothers SP, Conn PM. Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease. Traffic 2004;5:821-837.
29. Welch WJ. Role of quality control pathways in human diseases involving protein misfolding. Semin Cell Dev Biol 2004;15:31-38.
30. Anelli T, Sitia R. Protein quality control in the early secretory pathway. EMBO J 2008;27:315-327.
31. Plass JR, Mol O, Heegsma J, Geuken M, de Bruin J, Elling G, et al. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. J Hepatol 2004;40:24-30.