Functional analysis of genetic variations in the 5?-flanking region of the human MDR1 gene

Molecular Genetics and Metabolism

Volumn 102, Issue 1, 2011, Pages 91-98

  Saeki, Mayumi ^a   Kurose, Kouichi ^a   Hasegawa, Ryuichi ^a   Tohkin, Masahiro ^a  

^a NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

Author keywords

5 flanking region; Multidrug resistance 1; Nuclear receptors; P glycoprotein; Single nucleotide polymorphism

Indexed keywords

CELL NUCLEUS RECEPTOR; CONSTITUTIVE ANDROSTANE RECEPTOR; GLYCOPROTEIN P; MULTIDRUG RESISTANCE PROTEIN 1; PREGNANE X RECEPTOR; THYROID HORMONE RECEPTOR; VITAMIN D RECEPTOR;

ARTICLE; BINDING AFFINITY; DNA FLANKING REGION; GEL MOBILITY SHIFT ASSAY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RECEPTOR BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION;

5' FLANKING REGION; BASE SEQUENCE; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENES, REPORTER; HUMANS; MOLECULAR SEQUENCE DATA; P-GLYCOPROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYNUCLEOTIDES; PROTEIN BINDING; RECEPTORS, CALCITRIOL; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, STEROID; THYROID HORMONE RECEPTORS BETA; TRANSCRIPTION, GENETIC; TUMOR CELLS, CULTURED;

EID: 78650906667     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.08.019     Document Type: Article

References (46)

1. Wacher V.J., Silverman J.A., Zhang Y., Benet L.Z. Role of P-glycoprotein and cytochrome P450 3A in limiting oral absorption of peptides and peptidomimetics. J. Pharm. Sci. 1998, 87:1322-1330.
2. Sakaeda T., Nakamura T., Okumura K. MDR1 genotype-related pharmacokinetics and pharmacodynamics. Biol. Pharm. Bull. 2002, 25:1391-1400.
3. Thiebaut F., Tsuruo T., Hamada H., Gottesman M.M., Pastan I., Willingham M.C. Cellular localization of the multidrug-resistance gene product P-glycoprotein in normal human tissues. Proc. Natl Acad. Sci. USA 1987, 84:7735-7738.
4. Thorn M., Finnstrom N., Lundgren S., Rane A., Loof L. Cytochromes P450 and MDR1 mRNA expression along the human gastrointestinal tract. Br. J. Clin. Pharmacol. 2005, 60:54-60.
5. Cordon-Cardo C., O'Brien J.P., Casals D., Rittman-Grauer L., Biedler J.L., Melamed M.R., Bertino J.R. Multidrug-resistance gene (P-glycoprotein) is expressed by endothelial cells at blood-brain barrier sites. Proc. Natl Acad. Sci. USA 1989, 86:695-698.
6. Watkins P.B. The barrier function of CYP3A4 and P-glycoprotein in the small bowel. Adv. Drug Deliv. Rev. 1997, 27:161-170.
7. Taipalensuu J., Tornblom H., Lindberg G., Einarsson C., Sjoqvist F., Melhus H., Garberg P., Sjostrom B., Lundgren B., Artursson P. Correlation of gene expression of ten drug efflux proteins of the ATP-binding cassette transporter family in normal human jejunum and in human intestinal epithelial Caco-2 cell monolayers. J. Pharmacol. Exp. Ther. 2001, 299:164-170.
8. Zimmermann C., Gutmann H., Hruz P., Gutzwiller J.P., Beglinger C., Drewe J. Mapping of multidrug resistance gene 1 and multidrug resistance-associated protein isoform 1 to 5 mRNA expression along the human intestinal tract. Drug Metab. Dispos. 2005, 33:219-224.
9. Sai K., Kaniwa N., Itoda M., Saito Y., Hasegawa R., Komamura K., Ueno K., Kamakura S., Kitakaze M., Shirao K., Minami H., Ohtsu A., Yoshida T., Saijo N., Kitamura Y., Kamatani N., Ozawa S., Sawada J. Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan. Pharmacogenetics 2003, 13:741-757.
10. Faber K.N., Muller M., Jansen P.L. Drug transport proteins in the liver. Adv. Drug Deliv. Rev. 2003, 55:107-124.
11. Doran A., Obach R.S., Smith B.J., Hosea N.A., Becker S., Callegari E., Chen C., Chen X., Choo E., Cianfrogna J., Cox L.M., Gibbs J.P., Gibbs M.A., Hatch H., Hop C.E., Kasman I.N., Laperle J., Liu J., Liu X., Logman M., Maclin D., Nedza F.M., Nelson F., Olson E., Rahematpura S., Raunig D., Rogers S., Schmidt K., Spracklin D.K., Szewc M., Troutman M., Tseng E., Tu M., Van Deusen J.W., Venkatakrishnan K., Walens G., Wang E.Q., Wong D., Yasgar A.S., Zhang C. The impact of P-glycoprotein on the disposition of drugs targeted for indications of the central nervous system: evaluation using the MDR1A/1B knockout mouse model. Drug Metab. Dispos. 2005, 33:165-174.
12. Hendrikse N.H., Schinkel A.H., de Vries E.G., Fluks E., Van der Graaf W.T., Willemsen A.T., Vaalburg W., Franssen E.J. Complete in vivo reversal of P-glycoprotein pump function in the blood-brain barrier visualized with positron emission tomography. Br. J. Pharmacol. 1998, 124:1413-1418.
13. Muller M.B., Keck M.E., Binder E.B., Kresse A.E., Hagemeyer T.P., Landgraf R., Holsboer F., Uhr M. ABCB1 (MDR1)-type P-glycoproteins at the blood-brain barrier modulate the activity of the hypothalamic-pituitary-adrenocortical system: implications for affective disorder. Neuropsychopharmacology 2003, 28:1991-1999.
14. Schuetz E.G., Furuya K.N., Schuetz J.D. Interindividual variation in expression of P-glycoprotein in normal human liver and secondary hepatic neoplasms. J. Pharmacol. Exp. Ther. 1995, 275:1011-1018.
15. Lown K.S., Mayo R.R., Leichtman A.B., Hsiao H.L., Turgeon D.K., Schmiedlin-Ren P., Brown M.B., Guo W., Rossi S.J., Benet L.Z., Watkins P.B. Role of intestinal P-glycoprotein (mdr1) in interpatient variation in the oral bioavailability of cyclosporine. Clin. Pharmacol. Ther. 1997, 62:248-260.
16. Asghar A., Gorski J.C., Haehner-Daniels B., Hall S.D. Induction of multidrug resistance-1 and cytochrome P450 mRNAs in human mononuclear cells by rifampin. Drug Metab. Dispos. 2002, 30:20-26.
17. Taniguchi S., Mochida Y., Uchiumi T., Tahira T., Hayashi K., Takagi K., Shimada M., Maehara Y., Kuwano H., Kono S., Nakano H., Kuwano M., Wada M. Genetic polymorphism at the 5′ regulatory region of multidrug resistance 1 (MDR1) and its association with interindividual variation of expression level in the colon. Mol. Cancer Ther. 2003, 2:1351-1359.
18. Kerb R., Aynacioglu A.S., Brockmoller J., Schlagenhaufer R., Bauer S., Szekeres T., Hamwi A., Fritzer-Szekeres M., Baumgartner C., Ongen H.Z., Guzelbey P., Roots I., Brinkmann U. The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels. Pharmacogenomics J. 2001, 1:204-210.
19. Brinkmann U., Eichelbaum M. Polymorphisms in the ABC drug transporter gene MDR1. Pharmacogenomics J. 2001, 1:59-64.
20. Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. J. Hum. Genet. 2002, 47:38-50.
21. Kim R.B., Leake B.F., Choo E.F., Dresser G.K., Kubba S.V., Schwarz U.I., Taylor A., Xie H.G., McKinsey J., Zhou S., Lan L.B., Schuetz J.D., Schuetz E.G., Wilkinson G.R. Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin. Pharmacol. Ther. 2001, 70:189-199.
22. Kimchi-Sarfaty C., Oh J.M., Kim I.W., Sauna Z.E., Calcagno A.M., Ambudkar S.V., Gottesman M.M. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007, 315:525-528.
23. Hoffmeyer S., Burk O., von Richter O., Arnold H.P., Brockmoller J., Johne A., Cascorbi I., Gerloff T., Roots I., Eichelbaum M., Brinkmann U. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc. Natl Acad. Sci. USA 2000, 97:3473-3478.
24. Wang D., Johnson A.D., Papp A.C., Kroetz D.L., Sadee W. Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C>T affects mRNA stability. Pharmacogenet. Genomics 2005, 15:693-704.
25. Sakaeda T., Nakamura T., Horinouchi M., Kakumoto M., Ohmoto N., Sakai T., Morita Y., Tamura T., Aoyama N., Hirai M., Kasuga M., Okumura K. MDR1 genotype-related pharmacokinetics of digoxin after single oral administration in healthy Japanese subjects. Pharm. Res. 2001, 18:1400-1404.
26. Morita N., Yasumori T., Nakayama K. Human MDR1 polymorphism: G2677T/A and C3435T have no effect on MDR1 transport activities. Biochem. Pharmacol. 2003, 65:1843-1852.
27. Moriya Y., Nakamura T., Horinouchi M., Sakaeda T., Tamura T., Aoyama N., Shirakawa T., Gotoh A., Fujimoto S., Matsuo M., Kasuga M., Okumura K. Effects of polymorphisms of MDR1, MRP1, and MRP2 genes on their mRNA expression levels in duodenal enterocytes of healthy Japanese subjects. Biol. Pharm. Bull. 2002, 25:1356-1359.
28. Wang B., Ngoi S., Wang J., Chong S.S., Lee C.G. The promoter region of the MDR1 gene is largely invariant, but different single nucleotide polymorphism haplotypes affect MDR1 promoter activity differently in different cell lines. Mol. Pharmacol. 2006, 70:267-276.
29. Takane H., Kobayashi D., Hirota T., Kigawa J., Terakawa N., Otsubo K., Ieiri I. Haplotype-oriented genetic analysis and functional assessment of promoter variants in the MDR1 (ABCB1) gene. J. Pharmacol. Exp. Ther. 2004, 311:1179-1187.
30. Koyama T., Nakamura T., Komoto C., Sakaeda T., Taniguchi M., Okamura N., Tamura T., Aoyama N., Kamigaki T., Kuroda Y., Kasuga M., Kadoyama K., Okumura K. MDR1 T-129C polymorphism can be predictive of differentiation, and thereby prognosis of colorectal adenocarcinomas in Japanese. Biol. Pharm. Bull. 2006, 29:1449-1453.
31. Qian W., Homma M., Itagaki F., Tachikawa H., Kawanishi Y., Mizukami K., Asada T., Inomata S., Honda K., Ohkohchi N., Kohda Y. MDR1 gene polymorphism in Japanese patients with schizophrenia and mood disorders including depression. Biol. Pharm. Bull. 2006, 29:2446-2450.
32. Geick A., Eichelbaum M., Burk O. Nuclear receptor response elements mediate induction of intestinal MDR1 by rifampin. J. Biol. Chem. 2001, 276:14581-14587.
33. Burk O., Arnold K.A., Geick A., Tegude H., Eichelbaum M. A role for constitutive androstane receptor in the regulation of human intestinal MDR1 expression. Biol. Chem. 2005, 386:503-513.
34. Kurose K., Saeki M., Tohkin M., Hasegawa R. Thyroid hormone receptor mediates human MDR1 gene expression-identification of the response region essential for gene expression. Arch. Biochem. Biophys. 2008, 474:82-90.
35. Saeki M., Kurose K., Tohkin M., Hasegawa R. Identification of the functional vitamin D response elements in the human MDR1 gene. Biochem. Pharmacol. 2008, 76:531-542.
36. Sai K., Itoda M., Saito Y., Kurose K., Katori N., Kaniwa N., Komamura K., Kotake T., Morishita H., Tomoike H., Kamakura S., Kitakaze M., Tamura T., Yamamoto N., Kunitoh H., Yamada Y., Ohe Y., Shimada Y., Shirao K., Minami H., Ohtsu A., Yoshida T., Saijo N., Kamatani N., Ozawa S., Sawada J. Genetic variations and haplotype structures of the ABCB1 gene in a Japanese population: an expanded haplotype block covering the distal promoter region, and associated ethnic differences. Ann. Hum. Genet. 2006, 70:605-622.
37. Jigorel E., Le Vee M., Boursier-Neyret C., Parmentier Y., Fardel O. Differential regulation of sinusoidal and canalicular hepatic drug transporter expression by xenobiotics activating drug-sensing receptors in primary human hepatocytes. Drug Metab. Dispos. 2006, 34:1756-1763.
38. Comerford K.M., Wallace T.J., Karhausen J., Louis N.A., Montalto M.C., Colgan S.P. Hypoxia-inducible factor-1-dependent regulation of the multidrug resistance (MDR1) gene. Cancer Res. 2002, 62:3387-3394.
39. Koyano S., Saito Y., Fukushima-Uesaka H., Ishida S., Ozawa S., Kamatani N., Minami H., Ohtsu A., Hamaguchi T., Shirao K., Yoshida T., Saijo N., Jinno H., Sawada J. Functional analysis of six human aryl hydrocarbon receptor variants in a Japanese population. Drug Metab. Dispos. 2005, 33:1254-1260.
40. Jinno H., Tanaka-Kagawa T., Hanioka N., Ishida S., Saeki M., Soyama A., Itoda M., Nishimura T., Saito Y., Ozawa S., Ando M., Sawada J. Identification of novel alternative splice variants of human constitutive androstane receptor and characterization of their expression in the liver. Mol. Pharmacol. 2004, 65:496-502.
41. Kurose K., Tohkin M., Fukuhara M. A novel positive regulatory element that enhances hamster CYP2A8 gene expression mediated by xenobiotic responsive element. Mol. Pharmacol. 1999, 55:279-287.
42. Gow J.M., Chinn L.W., Kroetz D.L. The effects of ABCB1 3′-untranslated region variants on mRNA stability. Drug Metab. Dispos. 2008, 36:10-15.
43. Pfrunder A., Gutmann H., Beglinger C., Drewe J. Gene expression of CYP3A4, ABC-transporters (MDR1 and MRP1-MRP5) and hPXR in three different human colon carcinoma cell lines. J. Pharm. Pharmacol. 2003, 55:59-66.
44. Cerveny L., Svecova L., Anzenbacherova E., Vrzal R., Staud F., Dvorak Z., Ulrichova J., Anzenbacher P., Pavek P. Valproic acid induces CYP3A4 and MDR1 gene expression by activation of constitutive androstane receptor and pregnane X receptor pathways. Drug Metab. Dispos. 2007, 35:1032-1041.
45. Marchetti S., Mazzanti R., Beijnen J.H., Schellens J.H. Concise review: clinical relevance of drug-drug and herb-drug interactions mediated by the ABC transporter ABCB1 (MDR1, P-glycoprotein). Oncologist 2007, 12:927-941.
46. Olinga P., Elferink M.G., Draaisma A.L., Merema M.T., Castell J.V., Perez G., Groothuis G.M. Coordinated induction of drug transporters and phase I and II metabolism in human liver slices. Eur. J. Pharm. Sci. 2008, 33:380-389.