메뉴 건너뛰기




Volumn 6, Issue 4, 1996, Pages 279-290

Genetic polymorphism of thiopurine S-methyltransferase: Clinical importance and molecular mechanisms

Author keywords

Azathioprine; Genetic polymorphism; Mercaptopurine; Thioguanine; Thiopurine S methyltransferase

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; ANTINEOPLASTIC AGENT; AZATHIOPRINE; MERCAPTOPURINE; THIOGUANOSINE DERIVATIVE; THIOPURINE METHYLTRANSFERASE; TIOGUANINE; UNCLASSIFIED DRUG;

EID: 0029736709     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-199608000-00001     Document Type: Review
Times cited : (256)

References (60)
  • 1
    • 0015051580 scopus 로고
    • 6-methylthioguanylic acid, a metabolite of 6-thioguanine
    • Allan PW, Bennett LL. 6-methylthioguanylic acid, a metabolite of 6-thioguanine. Biochem Pharmacol 1971: 20, 847.
    • (1971) Biochem Pharmacol , vol.20 , pp. 847
    • Allan, P.W.1    Bennett, L.L.2
  • 2
    • 0022630280 scopus 로고
    • Thiopurine methyltransferase: Structure-activity relationships for benzoic acid inhibitors and thiophenol substrates
    • Ames MM, Selassie CD, Woodson LC, Van Loon JA, Hansch C, Weinshilboum RM. Thiopurine methyltransferase: structure-activity relationships for benzoic acid inhibitors and thiophenol substrates. J Med Chem 1986: 29, 354-358.
    • (1986) J Med Chem , vol.29 , pp. 354-358
    • Ames, M.M.1    Selassie, C.D.2    Woodson, L.C.3    Van Loon, J.A.4    Hansch, C.5    Weinshilboum, R.M.6
  • 7
    • 0000389279 scopus 로고
    • The purine path to chemotherapy
    • Elion GB. The purine path to chemotherapy. Science 1989: 24, 441-447.
    • (1989) Science , vol.24 , pp. 441-447
    • Elion, G.B.1
  • 8
    • 0027987112 scopus 로고
    • Mercaptopurine vs Thioguanine for the treatment of acute lymphoblastic leukemia
    • Evans WE, Relling MV. Mercaptopurine vs Thioguanine for the treatment of acute lymphoblastic leukemia. Leukemia Res 1994: 18, 811-814.
    • (1994) Leukemia Res , vol.18 , pp. 811-814
    • Evans, W.E.1    Relling, M.V.2
  • 9
    • 0025837127 scopus 로고
    • Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia
    • Evans WE, Homer M, Chu YQ, Kalwinsky D, Roberts WM. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 1991: 119, 985-989.
    • (1991) J Pediatr , vol.119 , pp. 985-989
    • Evans, W.E.1    Homer, M.2    Chu, Y.Q.3    Kalwinsky, D.4    Roberts, W.M.5
  • 10
    • 0027476961 scopus 로고
    • Molecular genetics of the N-acetyltransferases
    • Grant DM. Molecular genetics of the N-acetyltransferases. Pharmacogenetics 1993: 3, 45-50.
    • (1993) Pharmacogenetics , vol.3 , pp. 45-50
    • Grant, D.M.1
  • 11
    • 0025357147 scopus 로고
    • Mouse thiopurine methyltransferase pharmacogenetics: Correlation of immunoreactive protein and enzymatic activity
    • Hernandez JS, Van Loon JA, Otterness DM, Weinshilboum RM. Mouse thiopurine methyltransferase pharmacogenetics: correlation of immunoreactive protein and enzymatic activity. J Pharmacol Exp Ther 1990: 252, 568-573.
    • (1990) J Pharmacol Exp Ther , vol.252 , pp. 568-573
    • Hernandez, J.S.1    Van Loon, J.A.2    Otterness, D.M.3    Weinshilboum, R.M.4
  • 14
    • 0028228699 scopus 로고
    • Thiopurine methyltransferase activity in a French population: HPLC assay conditions and effects of drugs and inhibitors
    • Jacqz-Aigrain E, Bessa E, Medard Y, Mircheva Y, Vilmer E. Thiopurine methyltransferase activity in a French population: HPLC assay conditions and effects of drugs and inhibitors. Br J Clin Pharmacol 1994: 38, 1-8.
    • (1994) Br J Clin Pharmacol , vol.38 , pp. 1-8
    • Jacqz-Aigrain, E.1    Bessa, E.2    Medard, Y.3    Mircheva, Y.4    Vilmer, E.5
  • 15
    • 0029130857 scopus 로고
    • Azathioprine for long-term maintenance of remission in autoimmune hepatitis
    • Johnson PJ, McFarlane IG, Williams R. Azathioprine for long-term maintenance of remission in autoimmune hepatitis. N Engl J Med 1995: 333, 958-63.
    • (1995) N Engl J Med , vol.333 , pp. 958-963
    • Johnson, P.J.1    McFarlane, I.G.2    Williams, R.3
  • 16
    • 0027394372 scopus 로고
    • Thiopurine methyltransferase activity in a sample population of black subjects in Florida
    • Jones CD, Smart C, Titus A, Blyden G, Dorvil M, Nwadike N. Thiopurine methyltransferase activity in a sample population of black subjects in Florida. Clin Pharmacol Ther 1993: 53, 348-353.
    • (1993) Clin Pharmacol Ther , vol.53 , pp. 348-353
    • Jones, C.D.1    Smart, C.2    Titus, A.3    Blyden, G.4    Dorvil, M.5    Nwadike, N.6
  • 17
    • 0028179364 scopus 로고
    • Widespread occurrence of three sequence motifs in diverse S-adenosylmethionine-dependent methyltransferases suggests a common structure for these enzymes
    • Kagan RM, Clarke S. Widespread occurrence of three sequence motifs in diverse S-adenosylmethionine-dependent methyltransferases suggests a common structure for these enzymes. Arch Biochem Biophys 1994: 310, 417-427.
    • (1994) Arch Biochem Biophys , vol.310 , pp. 417-427
    • Kagan, R.M.1    Clarke, S.2
  • 19
    • 0027410849 scopus 로고
    • Identification of factors regulating thiopurine methyltransferase activity in a Norwegian population
    • Klemetsdal B, Straume B, Wist E, Aarbakke J. Identification of factors regulating thiopurine methyltransferase activity in a Norwegian population. Eur J Clin Pharmacol 1993: 44, 147-152.
    • (1993) Eur J Clin Pharmacol , vol.44 , pp. 147-152
    • Klemetsdal, B.1    Straume, B.2    Wist, E.3    Aarbakke, J.4
  • 20
    • 0029073930 scopus 로고
    • Methylation of mercaptopurine, thioguanine and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase
    • Krynetski EY, Krynetskaia NF, Yanishevski Y, Evans WE, Methylation of mercaptopurine, thioguanine and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase. Mol Pharmacol 1995a: 47, 1141-1147.
    • (1995) Mol Pharmacol , vol.47 , pp. 1141-1147
    • Krynetski, E.Y.1    Krynetskaia, N.F.2    Yanishevski, Y.3    Evans, W.E.4
  • 22
    • 0004573539 scopus 로고
    • Incorporation of 6-thioguanine into nucleic acids
    • Le Page GA. Incorporation of 6-thioguanine into nucleic acids. Cancer Res 1960: 20, 403-408.
    • (1960) Cancer Res , vol.20 , pp. 403-408
    • Le Page, G.A.1
  • 23
    • 0028913757 scopus 로고
    • Thiopurine melhyltransferase pharmacogenetics: Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1
    • Lee D, Szumlanski C, Houtman J, Honchel R, Rojas K, Overhauser J, Wieben ED, Weinshilboum RM. Thiopurine melhyltransferase pharmacogenetics: Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1. Drug Met Disp 1995: 23, 398-405.
    • (1995) Drug Met Disp , vol.23 , pp. 398-405
    • Lee, D.1    Szumlanski, C.2    Houtman, J.3    Honchel, R.4    Rojas, K.5    Overhauser, J.6    Wieben, E.D.7    Weinshilboum, R.M.8
  • 24
    • 0027165518 scopus 로고
    • Thiopurine S-methyltransferase activity in a Chinese population
    • Lee EJ, Kalow W. Thiopurine S-methyltransferase activity in a Chinese population. Clin Pharmacol Ther 1993: 54, 28-33.
    • (1993) Clin Pharmacol Ther , vol.54 , pp. 28-33
    • Lee, E.J.1    Kalow, W.2
  • 25
    • 9544244329 scopus 로고
    • High-performance liquid Chromatographic assay of human red blood cell thiopurine methyltransferase activity
    • Lennard L, Singleton HJ. High-performance liquid Chromatographic assay of human red blood cell thiopurine methyltransferase activity. J Chrom 1994: 66, 125-133.
    • (1994) J Chrom , vol.66 , pp. 125-133
    • Lennard, L.1    Singleton, H.J.2
  • 26
    • 0020512528 scopus 로고
    • Childhood leukemia: A relationship between intracellular 6-mercaptopurine metabolism and neutropenia
    • Lennard L, Rees CA, Lilleyman JS, Maddocks JL. Childhood leukemia: a relationship between intracellular 6-mercaptopurine metabolism and neutropenia. Br J Clin Pharmacol 1983: 16, 359-63.
    • (1983) Br J Clin Pharmacol , vol.16 , pp. 359-363
    • Lennard, L.1    Rees, C.A.2    Lilleyman, J.S.3    Maddocks, J.L.4
  • 27
    • 0024451147 scopus 로고
    • Pharmacogenetics of acute azathioprine toxicity: Relationship to thiopurine methyltransferase genetic polymorphism
    • Lennard L, Van Loon JA, Weinshilboum RM. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 1989: 46, 149-154.
    • (1989) Clin Pharmacol Ther , vol.46 , pp. 149-154
    • Lennard, L.1    Van Loon, J.A.2    Weinshilboum, R.M.3
  • 28
    • 0025331198 scopus 로고
    • Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia
    • Lennard L, Lilleyman JS, Van Loon JA, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990: 336, 225-229.
    • (1990) Lancet , vol.336 , pp. 225-229
    • Lennard, L.1    Lilleyman, J.S.2    Van Loon, J.A.3    Weinshilboum, R.M.4
  • 29
    • 0027276221 scopus 로고
    • Is 6-thioguanine more appropriate than 6-mercaptopurine for children with acute lymphoblastic leukaemia?
    • Lennard L, Davies HA, Lilleyman JS. Is 6-thioguanine more appropriate than 6-mercaptopurine for children with acute lymphoblastic leukaemia? Br J Cancer 1993: 68, 186-190.
    • (1993) Br J Cancer , vol.68 , pp. 186-190
    • Lennard, L.1    Davies, H.A.2    Lilleyman, J.S.3
  • 30
    • 0028269944 scopus 로고
    • Mercaptopurine metabolism and risk of relapse in childhood lymphoblastic leukaemia
    • Lilleyman JS, Lennard L. Mercaptopurine metabolism and risk of relapse in childhood lymphoblastic leukaemia. Lancet 1994: 343, 1188-1190.
    • (1994) Lancet , vol.343 , pp. 1188-1190
    • Lilleyman, J.S.1    Lennard, L.2
  • 31
    • 0027285234 scopus 로고
    • Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient
    • McLeod HL, Miller DR, Evans WE. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet 1993: 341, 1151.
    • (1993) Lancet , vol.341 , pp. 1151
    • McLeod, H.L.1    Miller, D.R.2    Evans, W.E.3
  • 32
    • 0028044714 scopus 로고
    • Thiopurine methyltransferase activity in American white subjects and black subjects
    • McLeod HL, Lin JS, Scott EP, Pui CH, Evans WE. Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Therap 1994: 55, 15-20.
    • (1994) Clin Pharmacol Therap , vol.55 , pp. 15-20
    • McLeod, H.L.1    Lin, J.S.2    Scott, E.P.3    Pui, C.H.4    Evans, W.E.5
  • 33
    • 0028826952 scopus 로고
    • Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults
    • McLeod HL, Krynetski EY, Wilimas JA, Evans WE. Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 1995a: 5, 281-286.
    • (1995) Pharmacogenetics , vol.5 , pp. 281-286
    • McLeod, H.L.1    Krynetski, E.Y.2    Wilimas, J.A.3    Evans, W.E.4
  • 34
    • 0028930908 scopus 로고
    • Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia
    • McLeod HL, Relling MV, Liu Q, Pui C-H, Evans WE. Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia. Blood 1995b: 85, 1897-1902.
    • (1995) Blood , vol.85 , pp. 1897-1902
    • McLeod, H.L.1    Relling, M.V.2    Liu, Q.3    Pui, C.-H.4    Evans, W.E.5
  • 35
    • 0026254621 scopus 로고
    • Genotype or phenotype: The definition of a pharmacogenetic polymorphism
    • Meyer UA. Genotype or phenotype: the definition of a pharmacogenetic polymorphism. Pharmacogenetics 1991: 1, 66-67.
    • (1991) Pharmacogenetics , vol.1 , pp. 66-67
    • Meyer, U.A.1
  • 36
    • 0026336203 scopus 로고
    • Thiopurine methyltransferase in humans: Development and tissue distribution
    • Pacifici GM, Romiti P, Giuliani L, Rane A. Thiopurine methyltransferase in humans: development and tissue distribution. Develop Pharmacol Ther 1991: 17, 16-23.
    • (1991) Develop Pharmacol Ther , vol.17 , pp. 16-23
    • Pacifici, G.M.1    Romiti, P.2    Giuliani, L.3    Rane, A.4
  • 37
    • 0018939350 scopus 로고
    • Thio S-methylation in uremia: Erythrocyte enzyme activities and plasma inhibitors
    • Pazmino PA, Sladek SL, Weinshilboum RM. Thio S-methylation in uremia: Erythrocyte enzyme activities and plasma inhibitors. Clin Pharmacol Ther 1980: 28, 356-367.
    • (1980) Clin Pharmacol Ther , vol.28 , pp. 356-367
    • Pazmino, P.A.1    Sladek, S.L.2    Weinshilboum, R.M.3
  • 38
    • 0022502428 scopus 로고
    • Xanthine oxidase: Biochemistry, distribution and physiology
    • Parks DA, Granger DN. Xanthine oxidase: biochemistry, distribution and physiology. Acta Physiol Scand (Suppl ) 1986: 548, 89-99.
    • (1986) Acta Physiol Scand (Suppl ) , vol.548 , pp. 89-99
    • Parks, D.A.1    Granger, D.N.2
  • 40
    • 0000609893 scopus 로고
    • Metabolism of thiopyrimidines and thiopurines
    • Remy CN. Metabolism of thiopyrimidines and thiopurines. J Biol Chem 1965: 238, 1078-1084.
    • (1965) J Biol Chem , vol.238 , pp. 1078-1084
    • Remy, C.N.1
  • 41
    • 0027401302 scopus 로고
    • Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient
    • Schutz E, Gummert J, Mohr F, Oellerich M. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient, Lancet 1993: 341, 436.
    • (1993) Lancet , vol.341 , pp. 436
    • Schutz, E.1    Gummert, J.2    Mohr, F.3    Oellerich, M.4
  • 42
    • 0026907122 scopus 로고
    • Human liver thiopurine methyltransferase pharmacogenetics: Biochemical properties. liver-erythrocyte correlation and presence of isozymes
    • Szumlanski CL, Honchel R, Scott MC, Weinshilboum RM. Human liver thiopurine methyltransferase pharmacogenetics: Biochemical properties. liver-erythrocyte correlation and presence of isozymes. Pharmacogenetics 1992: 2, 148-159.
    • (1992) Pharmacogenetics , vol.2 , pp. 148-159
    • Szumlanski, C.L.1    Honchel, R.2    Scott, M.C.3    Weinshilboum, R.M.4
  • 44
    • 0029919807 scopus 로고    scopus 로고
    • Thiopurine S-methyltransferase deficiency: Two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians
    • to be inserted in page proof
    • Tai HL, Krynetski EY, Krynetskaia NF, Yates CR, Evans WE. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am J Hum Genet 1996: 58, (to be inserted in page proof).
    • (1996) Am J Hum Genet , vol.58
    • Tai, H.L.1    Krynetski, E.Y.2    Krynetskaia, N.F.3    Yates, C.R.4    Evans, W.E.5
  • 45
    • 0014501287 scopus 로고
    • Inhibition of phosphoribosyl pyrophosphate amidotransferase for Erlich ascites tumor cells by thiopurine nucleotides
    • Tay BS, Lilley R, McMurray AW, Atkinson MR. Inhibition of phosphoribosyl pyrophosphate amidotransferase for Erlich ascites tumor cells by thiopurine nucleotides. Biochem Pharmacol 1969: 18, 936.
    • (1969) Biochem Pharmacol , vol.18 , pp. 936
    • Tay, B.S.1    Lilley, R.2    McMurray, A.W.3    Atkinson, M.R.4
  • 47
    • 0016053706 scopus 로고
    • A biochemical mechanism for the delayed cytotoxic reaction of 6-mercaptopurine
    • Tidd DM, Patterson ARP. A biochemical mechanism for the delayed cytotoxic reaction of 6-mercaptopurine. Cancer Res 1974: 34, 738-746.
    • (1974) Cancer Res , vol.34 , pp. 738-746
    • Tidd, D.M.1    Patterson, A.R.P.2
  • 48
    • 0016053656 scopus 로고
    • Distinction between inhibition of purine nucleotide synthesis and the delayed cytotoxic reaction of 6-mercaptopurine
    • Tidd DM, Paterson ARP. Distinction between inhibition of purine nucleotide synthesis and the delayed cytotoxic reaction of 6-mercaptopurine. Cancer Res 1974: 34, 733-737.
    • (1974) Cancer Res , vol.34 , pp. 733-737
    • Tidd, D.M.1    Paterson, A.R.P.2
  • 50
    • 0019987157 scopus 로고
    • Thiopurine methyltransferase biochemical genetics: Human lymphocyte activity
    • Van Loon JA, Weinshilboum RM. Thiopurine methyltransferase biochemical genetics: human lymphocyte activity. Biochem Genet 1982: 20, 637-58.
    • (1982) Biochem Genet , vol.20 , pp. 637-658
    • Van Loon, J.A.1    Weinshilboum, R.M.2
  • 51
    • 0025187322 scopus 로고
    • Thiopurine methyltransferase isozymes in human renal tissue
    • Van Loon JA, Weinshilboum RM. Thiopurine methyltransferase isozymes in human renal tissue. Drug Metab Dispos 1990: 18, 632-638.
    • (1990) Drug Metab Dispos , vol.18 , pp. 632-638
    • Van Loon, J.A.1    Weinshilboum, R.M.2
  • 52
    • 0026779179 scopus 로고
    • Human kidney thiopurine methyltransferase. Photoaffinity labelling with S-adenosyl-1-methionine
    • Van Loon JA. Szumlanski CL, Weinshilboium RM. Human kidney thiopurine methyltransferase. Photoaffinity labelling with S-adenosyl-1-methionine. Biochem Pharmacol 1992: 44, 775-785.
    • (1992) Biochem Pharmacol , vol.44 , pp. 775-785
    • Van Loon, J.A.1    Szumlanski, C.L.2    Weinshilboium, R.M.3
  • 55
    • 0026714550 scopus 로고
    • Methylation pharmacogenetics: Thiopurine methyltransferase as a model system
    • Weinshilboum RM. Methylation pharmacogenetics: thiopurine methyltransferase as a model system. Xenobiotica 1992: 22, 1055-1071.
    • (1992) Xenobiotica , vol.22 , pp. 1055-1071
    • Weinshilboum, R.M.1
  • 56
    • 0018822866 scopus 로고
    • Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity
    • Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980: 32, 651-662.
    • (1980) Am J Hum Genet , vol.32 , pp. 651-662
    • Weinshilboum, R.M.1    Sladek, S.L.2
  • 57
    • 0017880983 scopus 로고
    • Human erylhrocyte thiopurine methyltransferase: Radiochemical microassay and biochemical properties
    • Weinshilboum RM, Raymond FA, Pazmino PA. Human erylhrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties, Clin Chim Acta 1978: 85, 323-333.
    • (1978) Clin Chim Acta , vol.85 , pp. 323-333
    • Weinshilboum, R.M.1    Raymond, F.A.2    Pazmino, P.A.3
  • 58
    • 0021052544 scopus 로고
    • Thiopurine methyltransferase: Aromatic thiol substrates and inhibition by benzoic acid derivatives
    • Woodson LC, Ames MM, Selassic CD, Hansch C, Weinshilboum RM. Thiopurine methyltransferase: aromatic thiol substrates and inhibition by benzoic acid derivatives. Mol Pharmacol 1985: 24, 471-478.
    • (1985) Mol Pharmacol , vol.24 , pp. 471-478
    • Woodson, L.C.1    Ames, M.M.2    Selassic, C.D.3    Hansch, C.4    Weinshilboum, R.M.5
  • 59
    • 0020640116 scopus 로고
    • Human kidney thiopurine methyltransferase: Purification and biochemical properties
    • Woodson LC, Weinshilboum RM. Human kidney thiopurine methyltransferase: Purification and biochemical properties. Biochem Pharmacol 1983: 32, 819-826.
    • (1983) Biochem Pharmacol , vol.32 , pp. 819-826
    • Woodson, L.C.1    Weinshilboum, R.M.2
  • 60
    • 0019956940 scopus 로고
    • Pharmacogenelics of human thiopurine methyltransferase: Kidney-erythrocyte correlation and immunotitration studies
    • Woodson LC, Dunette JH, Weinshilboum RM. Pharmacogenelics of human thiopurine methyltransferase: kidney-erythrocyte correlation and immunotitration studies. J Pharmacol Exp Ther 1982: 222, 174-181.
    • (1982) J Pharmacol Exp Ther , vol.222 , pp. 174-181
    • Woodson, L.C.1    Dunette, J.H.2    Weinshilboum, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.