A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis

Liver International

Volumn 33, Issue 10, 2013, Pages 1527-1535

  Stindt, Jan ^a,b   Ellinger, Philipp ^b   Weissenberger, Katrin ^a   Dröge, Carola ^a   Herebian, Diran ^a   Mayatepek, Ertan ^a   Homey, Bernhard ^a   Braun, Stephan ^a   Schulte am Esch, Jan ^a   Horacek, Michael ^c   Canbay, Ali ^c   Schmitt, Lutz ^b   Häussinger, Dieter ^a   Kubitz, Ralf ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c UNIVERSITY OF ESSEN MEDICAL SCHOOL   (Germany)

Author keywords

ABC transporter; ABCB11; Benign recurrent intrahepatic cholestasis; Bile salt export pump; BRIC; BSEP; PFIC; Progressive familial intrahepatic cholestasis

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER B11; BILE SALT; UNCLASSIFIED DRUG;

ALPHA HELIX; ARTICLE; BILE SECRETION; CASE REPORT; CELL MEMBRANE; CELL MIGRATION; CONTROLLED STUDY; FEMALE; GENE OVEREXPRESSION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; LIVER CELL; LIVER CIRRHOSIS; LIVER FIBROSIS; MALE; MISSENSE MUTATION; PICHIA PASTORIS; YEAST CELL;

ABC TRANSPORTER; ABCB11; BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS; BILE SALT EXPORT PUMP; BRIC; BSEP; PFIC; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BILE ACIDS AND SALTS; BLOTTING, WESTERN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CLONING, MOLECULAR; DNA PRIMERS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HEK293 CELLS; HUMANS; LIVER CIRRHOSIS, BILIARY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION, MISSENSE; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA; SIBLINGS; TANDEM MASS SPECTROMETRY; YEASTS; YOUNG ADULT;

EID: 84885183116     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/liv.12217     Document Type: Article

References (26)

1. Stieger B. Recent insights into the function and regulation of the bile salt export pump (ABCB11). Curr Opin Lipidol 2009; 20: 176-81.
2. Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998; 20: 233-8.
3. Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219-24.
4. Ujhazy P, Ortiz D, Misra S, et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 2001; 34: 768-75.
5. Carlton VE, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 1995; 4: 1049-53.
6. van Mil SW, Van Der Woerd WL, Van Der Brugge G, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004; 127: 379-84.
7. Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D. Benign Recurrent Intrahepatic Cholestasis Associated With Mutations of the Bile Salt Export Pump. J Clin Gastroenterol 2006; 40: 171-5.
8. Keitel V, Burdelski M, Warskulat U, et al. Expression and localization of hepatobiliary transport proteins in Progressive Familial Intrahepatic Cholestasis. Hepatology 2005; 41: 1160-72.
9. Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002; 123: 1659-66.
10. Keitel V, Burdelski M, Vojnisek Z, et al. De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology 2009; 50: 510-7.
11. Chloupkova M, Pickert A, Lee JY, et al. Expression of 25 human ABC transporters in the yeast Pichia pastoris and characterization of the purified ABCC3 ATPase activity. Biochemistry 2007; 46: 7992-8003.
12. Stindt J, Ellinger P, Stross C, et al. Heterologous overexpression and mutagenesis of the human bile salt export pump (ABCB11) using DREAM (Directed REcombination-Assisted Mutagenesis). PLoS ONE 2011; 6: e20562.
13. Lerner-Marmarosh N, Gimi K, Urbatsch IL, Gros P, Senior AE. Large scale purification of detergent-soluble P-glycoprotein from Pichia pastoris cells and characterization of nucleotide binding properties of wild-type, Walker A, and Walker B mutant proteins. J Biol Chem 1999; 274: 34711-8.
14. Ernst R, Kueppers P, Klein CM, et al. A mutation of the H-loop selectively affects rhodamine transport by the yeast multidrug ABC transporter Pdr5. Proc Natl Acad Sci USA 2008; 105: 5069-74.
15. Gerloff T, Stieger B, Hagenbuch B, et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 1998; 273: 10046-50.
16. Erhardt A, Lörke J, Vogt C, et al. Transient elastography for diagnosing liver cirrhosis. Dtsch Med Wochenschr 2006; 131: 2765-9.
17. Castera L, Vergniol J, Foucher J, et al. Prospective comparison of transient elastography, Fibrotest, APRI, and liver biopsy for the assessment of fibrosis in chronic hepatitis C. Gastroenterology 2005; 128: 343-50.
18. Kubitz R, Dröge C, Stindt J, Weissenberger K, Häussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol 2012; 36: 536-53.
19. Tusnady GE, Simon I. Principles governing amino acid composition of integral membrane proteins: application to topology prediction. J Mol Biol 1998; 283: 489-506.
20. Lam CW, Cheung KM, Tsui MS, et al. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J Hepatol 2006; 44: 240-2.
21. Noe J, Hagenbuch B, Meier PJ, St-Pierre MV. Characterization of the mouse bile salt export pump overexpressed in the baculovirus system. Hepatology 2001; 33: 1223-31.
22. Jansen PL, Strautnieks SS, Jacquemin E, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999; 117: 1370-9.
23. Strautnieks SS, Byrne JA, Pawlikowska L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008; 134: 1203-14.
24. Wang L, Dong H, Soroka CJ, et al. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II. Hepatology 2008; 48: 1558-69.
25. Lam P, Pearson CL, Soroka CJ, et al. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol 2007; 293: C1709-16.
26. Dawson RJ, Locher KP. Structure of the multidrug ABC transporter Sav 1866 from Staphylococcus aureus in complex with AMP-PNP. FEBS Lett 2007; 581: 935-8.