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Volumn 69, Issue 3, 2005, Pages 525-529

Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT*16 and TPMT*19

Author keywords

6 Thioguanine; Azathioprine; Deficient methylator; Genetic polymorphism; Heterologous expression; TPMT

Indexed keywords

ARGININE; HISTIDINE; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; THIOPURINE METHYLTRANSFERASE 16; THIOPURINE METHYLTRANSFERASE 19; UNCLASSIFIED DRUG;

EID: 11844274653     PISSN: 00062952     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcp.2004.10.011     Document Type: Article
Times cited : (39)

References (26)
  • 1
    • 0030048791 scopus 로고    scopus 로고
    • Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism DNA
    • C. Szumlanski, D. Otterness, C. Her, D. Lee, B. Brandriff, and D. Kelsell Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism DNA Cell Biol 15 1996 17 30
    • (1996) Cell Biol , vol.15 , pp. 17-30
    • Szumlanski, C.1    Otterness, D.2    Her, C.3    Lee, D.4    Brandriff, B.5    Kelsell, D.6
  • 2
    • 0018822866 scopus 로고
    • Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity
    • R.M. Weinshilboum, and S.L. Sladek Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity Am J Hum Genet 32 1980 651 662
    • (1980) Am J Hum Genet , vol.32 , pp. 651-662
    • Weinshilboum, R.M.1    Sladek, S.L.2
  • 3
    • 0020640116 scopus 로고
    • Human kidney thiopurine methyltransferase: Purification and biochemical properties
    • L.C. Woodson, and R.M. Weinshilboum Human kidney thiopurine methyltransferase: purification and biochemical properties Biochem Pharmacol 32 1983 819 826
    • (1983) Biochem Pharmacol , vol.32 , pp. 819-826
    • Woodson, L.C.1    Weinshilboum, R.M.2
  • 4
    • 0035056404 scopus 로고    scopus 로고
    • Thiopurine pharmacogenetics: Clinical and molecular studies of thiopurine methyltransferase
    • R. Weinshilboum Thiopurine pharmacogenetics: clinical and molecular studies of thiopurine methyltransferase Drug Metab Dispos 29 2001 601 605
    • (2001) Drug Metab Dispos , vol.29 , pp. 601-605
    • Weinshilboum, R.1
  • 5
    • 0023119219 scopus 로고
    • Thiopurine pharmacogenetics in leukemia: Correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations
    • L. Lennard, J.A. Van Loon, J.S. Lilleyman, and R.M. Weinshilboum Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations Clin Pharmacol Ther 41 1987 18 25
    • (1987) Clin Pharmacol Ther , vol.41 , pp. 18-25
    • Lennard, L.1    Van Loon, J.A.2    Lilleyman, J.S.3    Weinshilboum, R.M.4
  • 6
    • 0024451147 scopus 로고
    • Pharmacogenetics of acute azathioprine toxicity: Relationship to thiopurine methyltransferase genetic polymorphism
    • L. Lennard, J.A. Van Loon, and R.M. Weinshilboum Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism Clin Pharmacol Ther 46 1989 149 154
    • (1989) Clin Pharmacol Ther , vol.46 , pp. 149-154
    • Lennard, L.1    Van Loon, J.A.2    Weinshilboum, R.M.3
  • 7
    • 0025837127 scopus 로고
    • Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphoblastic leukemia
    • W.E. Evans, M. Horner, Y.Q. Chu, D. Kalwinski, and W.M. Roberts Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphoblastic leukemia J Pediatr 119 1991 985 989
    • (1991) J Pediatr , vol.119 , pp. 985-989
    • Evans, W.E.1    Horner, M.2    Chu, Y.Q.3    Kalwinski, D.4    Roberts, W.M.5
  • 8
    • 0035871560 scopus 로고    scopus 로고
    • Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine
    • W.E. Evans, Y.Y. Hon, L. Bomgaars, S. Coutre, M. Holdsworth, and R. Janco Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine J Clin Oncol 19 2001 2293 2301
    • (2001) J Clin Oncol , vol.19 , pp. 2293-2301
    • Evans, W.E.1    Hon, Y.Y.2    Bomgaars, L.3    Coutre, S.4    Holdsworth, M.5    Janco, R.6
  • 9
    • 0028891465 scopus 로고
    • A pharmacogenetic basis for the safe and effective use of azathioprine and other thiopurine drugs in dermatologic patients
    • J.L. Snow, and L.E. Gibson A pharmacogenetic basis for the safe and effective use of azathioprine and other thiopurine drugs in dermatologic patients J Am Acad Dermatol 32 1995 114 116
    • (1995) J Am Acad Dermatol , vol.32 , pp. 114-116
    • Snow, J.L.1    Gibson, L.E.2
  • 10
    • 0033828949 scopus 로고    scopus 로고
    • Genetic polymorphism of thiopurine S-methyltransferase: Molecular mechanisms and clinical importance
    • E.Y. Krynetski, and W.E. Evans Genetic polymorphism of thiopurine S-methyltransferase: molecular mechanisms and clinical importance Pharmacology 61 2000 136 146
    • (2000) Pharmacology , vol.61 , pp. 136-146
    • Krynetski, E.Y.1    Evans, W.E.2
  • 12
    • 0009649472 scopus 로고    scopus 로고
    • Human thiopurine methyltransferase pharmacogenetics: Identification of a novel variant allele
    • D.M. Otterness, C.L. Szumlanski, and R.M. Weinshilboum Human thiopurine methyltransferase pharmacogenetics: identification of a novel variant allele J Invest Med 44 1996 248A
    • (1996) J Invest Med , vol.44
    • Otterness, D.M.1    Szumlanski, C.L.2    Weinshilboum, R.M.3
  • 13
    • 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
    • H.L. Tai, E.Y. Krynetski, C.R. Yates, T. Loennechen, M.Y. Fessing, and N.F. Krynetskaia 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 58 1996 694 702
    • (1996) Am J Hum Genet , vol.58 , pp. 694-702
    • Tai, H.L.1    Krynetski, E.Y.2    Yates, C.R.3    Loennechen, T.4    Fessing, M.Y.5    Krynetskaia, N.F.6
  • 15
    • 0032030953 scopus 로고    scopus 로고
    • Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity
    • D.M. Otterness, C.L. Szumlanski, s.T.C. Wood, and R.M. Weinshilboum Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity J Clin Invest 101 1998 1036 1044
    • (1998) J Clin Invest , vol.101 , pp. 1036-1044
    • Otterness, D.M.1    Szumlanski, C.L.2    Wood, S.T.C.3    Weinshilboum, R.M.4
  • 17
    • 0038103074 scopus 로고    scopus 로고
    • A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL
    • E. Schaeffeler, M. Stanulla, J. Greil, M. Schrappe, M. Eichelbaum, and U.M. Zanger A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL Leukemia 17 2003 1422 1424
    • (2003) Leukemia , vol.17 , pp. 1422-1424
    • Schaeffeler, E.1    Stanulla, M.2    Greil, J.3    Schrappe, M.4    Eichelbaum, M.5    Zanger, U.M.6
  • 18
    • 1942435574 scopus 로고    scopus 로고
    • Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity
    • M. Lindqvist, S. Haglund, S. Almer, C. Peterson, J. Taipalensu, and E. Hertervig Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity Pharmacogenetics 14 2004 261 265
    • (2004) Pharmacogenetics , vol.14 , pp. 261-265
    • Lindqvist, M.1    Haglund, S.2    Almer, S.3    Peterson, C.4    Taipalensu, J.5    Hertervig, E.6
  • 19
    • 0030934850 scopus 로고    scopus 로고
    • Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis of azathioprine and mercaptopurine intolerance
    • C.R. Yates, E.Y. Krynetski, T. Loennechen, M.Y. Fessing, H.L. Tai, and C.H. Pui Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis of azathioprine and mercaptopurine intolerance Ann Intern Med 126 1997 608 614
    • (1997) Ann Intern Med , vol.126 , pp. 608-614
    • Yates, C.R.1    Krynetski, E.Y.2    Loennechen, T.3    Fessing, M.Y.4    Tai, H.L.5    Pui, C.H.6
  • 20
    • 0028913757 scopus 로고
    • Thiopurine methyltransferase pharmacogenetics. Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1
    • D. Lee, C. Szumlanski, J. Houtman, R. Honchel, K. Rojas, and J. Overhauser Thiopurine methyltransferase pharmacogenetics. Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1 Drug Metab Dispos 23 1995 398 405
    • (1995) Drug Metab Dispos , vol.23 , pp. 398-405
    • Lee, D.1    Szumlanski, C.2    Houtman, J.3    Honchel, R.4    Rojas, K.5    Overhauser, J.6
  • 21
    • 0026562884 scopus 로고
    • Improved method for high efficiency transformation of intact yeast cells
    • D. Gietz, A. St Jean, R.A. Woods, and R.H. Schiestl Improved method for high efficiency transformation of intact yeast cells Nucleic Acids Res 20 1992 1425
    • (1992) Nucleic Acids Res , vol.20 , pp. 1425
    • Gietz, D.1    St Jean, A.2    Woods, R.A.3    Schiestl, R.H.4
  • 22
    • 0005454374 scopus 로고    scopus 로고
    • Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population
    • C. Spire-Vayron de la Moureyre, H. Debuysere, B. Mastain, E. Vinner, D. Marez, and J.M. Lo Guidice Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population Br J Pharmacol 125 1998 879 887
    • (1998) Br J Pharmacol , vol.125 , pp. 879-887
    • Spire-Vayron De La Moureyre, C.1    Debuysere, H.2    Mastain, B.3    Vinner, E.4    Marez, D.5    Lo Guidice, J.M.6
  • 23
    • 0031880735 scopus 로고    scopus 로고
    • Detection of known and new mutations in the thiopurine S-methyltransferase gene by single strand conformation polymorphism analysis
    • C. Spire-Vayron de la Moureyre, H. Debuysere, N. Sabbagh, D. Marez, E. Vinner, and D. Chevalier Detection of known and new mutations in the thiopurine S-methyltransferase gene by single strand conformation polymorphism analysis Hum Mutat 12 1998 177 185
    • (1998) Hum Mutat , vol.12 , pp. 177-185
    • Spire-Vayron De La Moureyre, C.1    Debuysere, H.2    Sabbagh, N.3    Marez, D.4    Vinner, E.5    Chevalier, D.6
  • 24
    • 0029073930 scopus 로고
    • Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase
    • E.Y. Krynetski, N.F. Krynetskaia, Y. Yanishevski, and W.E. Evans Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase Mol Pharmacol 47 1995 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
  • 25
    • 3242762099 scopus 로고    scopus 로고
    • Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants
    • E. Schaeffeler, C. Fischer, D. Brockmeier, D. Wernet, K. Moerike, and M. Eichelbaum Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants Pharmacogenetics 14 2004 407 417
    • (2004) Pharmacogenetics , vol.14 , pp. 407-417
    • Schaeffeler, E.1    Fischer, C.2    Brockmeier, D.3    Wernet, D.4    Moerike, K.5    Eichelbaum, M.6
  • 26
    • 0000813761 scopus 로고    scopus 로고
    • A three dimensional model of human thiopurine methyltransferase; Ligand interactions and structural consequences of naturally occurring mutations
    • R.A. Lysaa, I. Sylte, and J. Aarbakke A three dimensional model of human thiopurine methyltransferase; ligand interactions and structural consequences of naturally occurring mutations J Mol Model 4 1998 211 220
    • (1998) J Mol Model , vol.4 , pp. 211-220
    • Lysaa, R.A.1    Sylte, I.2    Aarbakke, J.3


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