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

Molecular Pharmacology

Volumn 70, Issue 1, 2006, Pages 267-276

  Wang, Baoshuang ^a   Ngoi, Soomun ^a   Wang, Jingbo ^b   Chong, Samuel S ^b,c   Lee, Caroline G L ^a,b  

^a DIVISION OF MEDICAL ONCOLOGY   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MULTIDRUG RESISTANCE PROTEIN 1;

ARTICLE; CELL LINE; CONTROLLED STUDY; ETHNIC DIFFERENCE; GENE ACTIVITY; GENE FREQUENCY; HAPLOTYPE; HUMAN; HUMAN CELL; IN VITRO STUDY; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN AMERICANS; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL LINE; CELL LINE, TUMOR; CHINA; DNA; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENES, MDR; HAPLOTYPES; HELA CELLS; HUMANS; INDIA; MALAYSIA; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS);

EID: 33745253447     PISSN: 0026895X     EISSN: 15210111     Source Type: Journal    
DOI: 10.1124/mol.105.019810     Document Type: Article

References (39)

1. Aklillu E, Carrillo JA, Makonnen E, Hellman K, Pitarque M, Bertilsson L, and Ingelman-Sundberg M (2003) Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression: characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1. Mol Pharmacol 64:659-669.
2. Chin KV, Tanaka S, Darlington G, Pastan I, and Gottesman MM (1990) Heat shock and arsenite increase expression of the multidrug resistance (MDR1) gene in human renal carcinoma cells. J Biol Chem 265:221-226.
3. Comerford KM, Wallace TJ, Karhausen J, Louis NA, Montalto MC, and Colgan SP (2002) Hypoxia-inducible factor-1-dependent regulation of the multidrug resistance (MDR1) gene. Cancer Res 62:3387-3394.
4. Drozdzik M, Bialecka M, Mysliwiec K, Honczarenko K, Stankiewicz J, and Sych Z (2003) Polymorphism in the P-glycoprotein drug transporter MDR1 gene: a possible link between environmental and genetic factors in Parkinson's disease. Pharmacogenetics 13:259-263.
5. Furuno T, Landi MT, Ceroni M, Caporaso N, Bernucci I, Nappi G, Martignoni E, Schaeffeler E, Eichelbaum M, Schwab M, et al. (2002) Expression polymorphism of the blood-brain barrier component P-glycoprotein (MDR1) in relation to Parkinson's disease. Pharmacogenetics 12:529-534.
6. Gottesman MM and Pastan I (1993) Biochemistry of multidrug resistance mediated by the multidrug transporter. Annu Rev Biochem 62:385-427.
7. Guo Y and Jamison DC (2005) The distribution of SNPs in human gene regulatory regions. BMC Genomics 6:140.
8. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M, et al. (2000) 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 97:3473-3478.
9. Hu Z, Jin S, and Scotto KW (2000) Transcriptional activation of the MDR1 gene by UV irradiation. Role of NF-Y and Sp1. J Biol Chem 275:2979-2985.
10. Ifergan I, Bernard NF, Bruneau J, Alary M, Tsoukas CM, and Roger M (2002) Allele frequency of three functionally active polymorphisms of the MDR-1 gene in high-risk HIV-negative and HIV-positive Caucasians. AIDS 16:2340-2342.
11. Ito S, Ieiri I, Tanabe M, Suzuki A, Higuchi S, and Otsubo K (2001) Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. Pharmacogenetics 11:175-184.
12. Joosten PH, Toepoel M, Mariman EC, and Van Zoelen EJ (2001) Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. Nat Genet 27:215-217.
13. Kohno K, Sato S, Takano H, Matsuo K, and Kuwano M (1989) The direct activation of human multidrug resistance gene (MDR1) by anticancer agents. Biochem Biophys Res Commun 165:1415-1421.
14. Labialle S, Gayet L, Marthinet E, Rigal D, and Baggetto LG (2002) Transcriptional regulators of the human multidrug resistance 1 gene: recent views. Biochem Pharmacol 64:943-948.
15. Lee CG, Chong SS, and Lee EJ (2004a) Pharmacogenetics of the Human MDR1 multidrug transporter. Curr Pharmacogenomics 2:1-11.
16. Lee CG, Ramachandra M, Jeang KT, Martin MA, Pastan I, and Gottesman MM (2000) Effect of ABC transporters on HIV-1 infection: inhibition of virus production by the MDR1 transporter. FASEB J 14:516-522.
17. Lee CG, Tang K, Cheung YB, Wong LP, Tan C, Shen H, Zhao Y, Pavanni R, Lee EJ, Wong MC, et al. (2004b) MDR1, the blood-brain barrier transporter, is associated with Parkinson's disease in ethnic Chinese. J Med Genet 41:e60.
18. Marzolini C, Paus E, Buclin T, and Kim RB (2004) Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clin Pharmacol Ther 75:13-33.
19. Miyazaki M, Kohno K, Uchiumi T, Tanimura H, Matsuo K, Nasu M, and Kuwano M (1992) Activation of human multidrug resistance-1 gene promoter in response to heat shock stress. Biochem Biophys Res Commun 187:677-684.
20. Ohga T, Koike K, Ono M, Makino Y, Itagaki Y, Tanimoto M, Kuwano M, and Kohno K (1996) Role of the human Y box-binding protein YB-1 in cellular sensitivity to the DNA-damaging agents cisplatin, mitomycin C and ultraviolet light. Cancer Res 56:4224-4228.
21. Raguz S, Tamburo De Bella M, Tripuraneni G, Slade MJ, Higgins CF, Coombes RC, and Yague E (2004) Activation of the MDR1 upstream promoter in breast carcinoma as a surrogate for metastatic invasion. Clin Cancer Res 10:2776-2783.
22. Rothenberg ML, Mickley LA, Cole DE, Balis FM, Tsuruo T, Poplack DG, and Fojo AT (1989) Expression of the mdr-1/P-170 gene in patients with acute lymphoblastic leukemia. Blood 74:1388-1395.
23. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, and Nakamura Y (2002) 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 47:38-50.
24. Schwab M, Schaeffeler E, Marx C, Fromm MF, Kaskas B, Metzler J, Stange E, Herfarth H, Schoelmerich J, Gregor M, et al. (2003) Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. Gastroenterology 124:26-33.
25. Sibley K, Rollinson S, Allan JM, Smith AG, Law GR, Roddam PL, Skibola CF, Smith MT, and Morgan GJ (2003) Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res 63:4327-4330.
26. Siegsmund M, Brinkmann U, Schaffeler E, Weirich G, Schwab M, Eichelbaum M, Fritz P, Burk O, Decker J, Alken P, et al. (2002) Association of the P-glycoprotein transporter MDR1(C3435T) polymorphism with the susceptibility to renal epithelial tumors. J Am Soc Nephrol 13:1847-1854.
27. Stein U, Walther W, and Shoemaker RH (1996) Vincristine induction of mutant and wild-type human multidrug-resistance promoters is cell-type-specific and dose-dependent. J Cancer Res Clin Oncol 122:275-282.
28. Takane H, Kobayashi D, Hirota T, Kigawa J, Terakawa N, Otsubo K, and Ieiri I (2004) Haplotype-oriented genetic analysis and functional assessment of promoter variants in the MDR1 (ABCB1) gene. J Pharmacol Exp Ther 311:1179-1187.
29. Tan EK, Chan DKY, Ng PW, Woo J, Teo YY, Tang K, Wong LP, Chong SS, Tan C, Shen H, et al. (2005) MDR1 haplotype (e21/2677T and e26/3435T) modulates risk of Parkinson's Disease. Arch Neurol 62:460-464.
30. Tan EK, Drozdzik M, Bialecka M, Honczarenko K, Klodowska-Duda G, Teo YY, Tang K, Wong LP, Chong SS, Tan C, et al. (2004) Analysis of MDR1 haplotypes in Parkinson's disease in a white population. Neurosci Lett 372:240-244.
31. Tanabe M, Ieiri I, Nagata N, Inoue K, Ito S, Kanamori Y, Takahashi M, Kurata Y, Kigawa J, Higuchi S, et al. (2001) Expression of P-glycoprotein in human placenta: relation to genetic polymorphism of the multidrug resistance (MDR)-1 gene. J Pharmacol Exp Ther 297:1137-1143.
32. Tang K, Wong LP, Lee EJ, Chong SS, and Lee CG (2004) Genomic evidence for recent positive selection at the human MDR1 gene locus. Hum Mol Genet 13:783-797.
33. Taniguchi S, Mochida Y, Uchiumi T, Tahira T, Hayashi K, Takagi K, Shimada M, Maehara Y, Kuwano H, Kono S, et al. (2003) 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 2:1351-1359.
34. Tanimura H, Kohno K, Sato S, Uchiumi T, Miyazaki M, Kobayashi M, and Kuwano M (1992) The human multidrug resistance 1 promoter has an element that responds to serum starvation. Biochem Biophys Res Commun 183:917-924.
35. Uchiumi T, Kohno K, Tanimura H, Matsuo K, Sato S, Uchida Y, and Kuwano M (1993) Enhanced expression of the human multidrug resistance 1 gene in response to UV light irradiation. Cell Growth Differ 4:147-157.
36. Ueda K, Clark DP, Chen CJ, Roninson IB, Gottesman MM, and Pastan I (1987a) The human multidrug resistance (mdr1) gene. cDNA cloning and transcription initiation. J Biol Chem 262:505-508.
37. Ueda K, Pastan I, and Gottesman MM (1987b) Isolation and sequence of the promoter region of the human multidrug-resistance (P-glycoprotein) gene. J Biol Chem 262:17432-17436.
38. Vilaboa NE, Galan A, Troyano A, de Blas E, and Aller P (2000) Regulation of multidrug resistance 1 (MDR1)/P-glycoprotein gene expression and activity by heat-shock transcription factor 1 (HSF1). J Biol Chem 275:24970-24976.
39. Wang Z, Wang B, Tang K, Lee EJ, Chong SS, and Lee CG (2005) A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection. Hum Mol Genet 14:2075-2087.