Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription

Pharmacogenomics

Volumn 11, Issue 4, 2010, Pages 547-557

  Zukic, Branka ^a   Radmilovic, Milena ^a   Stojiljkovic, Maja ^a   Tosic, Natasa ^a   Pourfarzad, Farzin ^b   Dokmanovic, Lidija ^c   Janic, Dragana ^c   Colovic, Natasa ^d   Philipsen, Sjaak ^e   Patrinos, George P ^a,e   Pavlovic, Sonja ^a  

^a INSTITUTE OF MOLECULAR GENETICS AND GENETIC ENGINEERING   (Serbia)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY CHILDREN S HOSPITAL   (Serbia)

^d CLINICAL CENTER OF SERBIA   (Serbia)

^e UNIVERSITY OF PATRAS   (Greece)

Author keywords

6 mercaptopurine; 6 MP; Pharmacogenetics; Thiopurine S methyltransferase; TPMT; Transcription; Variable number tandem repeat; VNTR

Indexed keywords

KRUPPEL LIKE FACTOR; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; TRANSCRIPTION FACTOR SP1; TRANSCRIPTION FACTOR SP3; TRANSCRIPTION FACTOR SP4;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ARTICLE; BLOOD SAMPLING; CHILD; DNA FLANKING REGION; DNA POLYMORPHISM; ENZYME ACTIVITY; GC RICH SEQUENCE; GEL MOBILITY SHIFT ASSAY; GENE AMPLIFICATION; GENE FUNCTION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHARMACOGENETICS; PROMOTER REGION; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN INTERACTION; SERBIA; TRANSCRIPTION INITIATION; VARIABLE NUMBER OF TANDEM REPEAT;

ELECTROPHORETIC MOBILITY SHIFT ASSAY; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; K562 CELLS; METHYLTRANSFERASES; MINISATELLITE REPEATS; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 77950351749     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.10.7     Document Type: Article

References (25)

1. Weinshilboum RM, Raymond FA, Pazmino PA: Human erythrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties. Clin. Chim. Acta 85, 323-333 (1978).
2. Krynetski EY, Tai HL, Yates CR, Fessing MY, Loennechen T, Schuetz JD: Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 6, 279-290 (1996).
3. Weinshilboum R: Inheritance and drug response. N. Engl. J. Med. 348(6), 529-537 (2003).
4. Weinshilboum RM, Sladek SL: Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. 32, 651-662 (1980).
5. Dokmanovic L, Urosevic J, Janic D et al.: Analysis of thiopurine S-methyltransferase polymorphism in the population of Serbia and Montenegro and mercaptopurine therapy tolerance in childhood acute lymphoblastic leukemia. Ther. Drug Monit. 28, 800-806 (2006).
6. Spire-Vayron de la Moureyre C, Debuysere H, Fazio F et al.: Characterization of variable number tandem repeat region in the thiopurine S-methyltransferase gene promoter. Pharmacogenetics 9, 189-198 (1999).
7. Roberts RL, Gearry RB, Bland MV et al.: Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity. Pharmacogenet. Genomics 18, 434-438 (2008).
8. Spire-Vayron de la Moureyre C, Debuysere H, Mastain B et al.: Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in European population. Br. J. Pharmacol. 125, 879-887 (1998).
9. Yan L, Zhang S, Eiff B et al.: Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin. Pharmacol. Ther. 68(2), 210-219 (2000).
10. Kham SK, Soh CK, Aw DC, Yeoh AE: TPMT*26 (208F-L), a novel mutation detected in a Chinese. Br. J. Clin. Pharmacol. 68, 120-123 (2009).
11. Krynetski EY, Fessing MY, Yates CR, Sun D, Schuetz JD, Evans WE: Promoter and intronic sequences of the human thiopurine S-methyltransferase (TPMT) gene isolated from a human PAC1 genomic library. Pharm. Res. 14, 1672-1678 (1997).
12. Fessing MZ, Krynetski EY, Zambethi GP, Evans WE: Functional characterization of the human thiopurin methyltransferase gene promoter. Eur. J. Biochem. 256, 510-517 (1998).
13. Marinaki AM, Arenas M, Khan ZH et al.: Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians. Pharmacogenetics 13, 97-105 (2003).
14. Alves S, Amorim A, Ferreira F, Prata MJ: Pharmacogenetics and genomics: infuence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin. Pharmacol. Ther. 70, 165-174 (2001).
15. Boshart M, Klüppel M, Schmidt A, Schütz G, Luckow B: Reporter constructs with low background activity utilizing the cat gene. Gene 110, 129-130 (1992).
16. Papachatzopoulou A, Kaimakis P, Pourfarzad F et al.: Increased g-globin gene expression in b-thalassemia intermedia patients correlates with a mutation in 3́HS1. Am. J. Hematol. 82, 1005-1009 (2007).
17. Alves S, Amorim A, Joao Prata M: Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequenced data. Hum. Genet. 111, 172-178 (2002).
18. Fabre MA, Jones DC, Bunce M et al.: The impact of thiopurine S-methyltransferase polymorphisms on azathioprine dose 1 year after renal transplantation. Transpl. Int. 17, 531-539 (2004).
19. Cartharius K, Frech K, Grote K et al.: MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 21, 2933-2942 (2005).
20. Chen BS, Hampsey M: Transcription activation: unveiling the essential nature of TFIID Curr. Biol. 12, 620-622 (2002).
21. van Loon JA, Weinshilboum RM: Human lymphocyte thiopurine methyltransferase pharmacogenetics: effect of phenotype on 6-mercaptopurine- induced inhibition of mitogen stimulation. J. Pharmacol. Exp. Ther. 242, 21-26 (1987).
22. Dervieux T, Blanco JG, Krynetski EY, Vanin EF, Roussel MF, Relling MV: Differing contribution of thiopurine methyltransferase to mercaptopurine versus thioguanine effects in human leukemic cells. Cancer Res. 61, 5810-5816 (2001).
23. Coulthard SA, Hogarth LA, Little M et al.: The effect of thiopurine methyltransferase expression on sensitivity to thiopurine drugs. Mol. Pharmacol. 62, 102-109 (2002).
24. Arenas M, Duley JA, Ansari A: Genetic determinants of the pre-and post-azathioprine therapy thiopurine methyltransferase activity phenotype. Nucleosides Nucleotides Nucleic Acids 23, 1403-1405 (2004).
25. Pruzina S, Hanscombe O, Whyatt D, Grosveld F, Philipsen S: Hypersensitive site 4 of the human b-globin locus control region. Nucleic Acids Res. 19, 1413-1418 (1991).