메뉴 건너뛰기




Volumn 20, Issue 11, 2010, Pages 700-707

Characterization of a novel sequence variant, TPMT*28, in the human thiopurine methyltransferase gene

Author keywords

pharmacogenetics; protein stability; right angle light scattering; single nucleotide polymorphism; thiopurine methyltransferase

Indexed keywords

AZATHIOPRINE; ISOLEUCINE; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; THIOPURINE METHYLTRANSFERASE 28; THREONINE; TIOGUANINE; UNCLASSIFIED DRUG;

EID: 78049296472     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283402ee4     Document Type: Article
Times cited : (27)

References (26)
  • 1
    • 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
  • 2
    • 0000609893 scopus 로고
    • Metabolism of thiopyrimidines and thiopurines. S-Methylation with S-adenosylmethionine transmethylase and catabolism in mammalian tissues
    • Remy CN. Metabolism of thiopyrimidines and thiopurines. S-Methylation with S-adenosylmethionine transmethylase and catabolism in mammalian tissues. J Biol Chem 1963; 238:1078-1084.
    • (1963) J Biol Chem , vol.238 , pp. 1078-1084
    • Remy, C.N.1
  • 3
    • 0026758498 scopus 로고
    • The clinical pharmacology of 6-mercaptopurine
    • Lennard L. The clinical pharmacology of 6-mercaptopurine. Eur J Clin Pharmacol 1992; 43:329-339.
    • (1992) Eur J Clin Pharmacol , vol.43 , pp. 329-339
    • Lennard, L.1
  • 4
    • 0029822592 scopus 로고    scopus 로고
    • Role of postreplicative DNA mismatch repair in the cytotoxic action of thioguanine
    • Swann PF, Waters TR, Moulton DC, Xu YZ, Zheng Q, Edwards M, et al. Role of postreplicative DNA mismatch repair in the cytotoxic action of thioguanine. Science 1996; 273:1109-1111.
    • (1996) Science , vol.273 , pp. 1109-1111
    • Swann, P.F.1    Waters, T.R.2    Moulton, D.C.3    Xu, Y.Z.4    Zheng, Q.5    Edwards, M.6
  • 6
    • 0035423158 scopus 로고    scopus 로고
    • Differing contribution of thiopurine methyltransferase to mercaptopurine versus thioguanine effects in human leukemic cells
    • 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 2001; 61:5810-5816.
    • (2001) Cancer Res , vol.61 , pp. 5810-5816
    • Dervieux, T.1    Blanco, J.G.2    Krynetski, E.Y.3    Vanin, E.F.4    Roussel, M.F.5    Relling, M.V.6
  • 7
    • 0018822866 scopus 로고
    • Mercaptopurine pharmacogenetics: Monogenic inheritance of erythrocyte thiopurine methyltransferase activity
    • Weinshilboum R, 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.1    Sladek, S.L.2
  • 8
    • 0036001231 scopus 로고    scopus 로고
    • Differences between children and adults in thiopurine methyltransferase activity and metabolite formation during thiopurine therapy: Possible role of concomitant methotrexate
    • Pettersson B, Almer S, Albertioni F, Söderhall S, Peterson C. Differences between children and adults in thiopurine methyltransferase activity and metabolite formation during thiopurine therapy: possible role of concomitant methotrexate. Ther Drug Monit 2002; 24:351-358.
    • (2002) Ther Drug Monit , vol.24 , pp. 351-358
    • Pettersson, B.1    Almer, S.2    Albertioni, F.3    Söderhall, S.4    Peterson, C.5
  • 9
    • 0030934850 scopus 로고    scopus 로고
    • Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis for azathioprine and mercaptopurine intolerance
    • Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997; 126:608-614.
    • (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
  • 11
    • 77449149797 scopus 로고    scopus 로고
    • Thiopurine S-methyltransferase pharmacogenetics: Functional characterization of a novel rapidly degraded variant allozyme
    • Feng Q, Vannaprasaht S, Peng Y, Angsuthum S, Avihingsanon Y, Yee VC, et al. Thiopurine S-methyltransferase pharmacogenetics: functional characterization of a novel rapidly degraded variant allozyme. Biochem Pharmacol 2009; 79:1053-1061.
    • (2009) Biochem Pharmacol , vol.79 , pp. 1053-1061
    • Feng, Q.1    Vannaprasaht, S.2    Peng, Y.3    Angsuthum, S.4    Avihingsanon, Y.5    Yee, V.C.6
  • 12
    • 1942435574 scopus 로고    scopus 로고
    • Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity
    • Lindqvist M, Haglund S, Almer S, Peterson C, Taipalensu J, Hertervig E, et al. Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity. Pharmacogenetics 2004; 14:261-265.
    • (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
  • 13
    • 34648851345 scopus 로고    scopus 로고
    • Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23
    • Lindqvist M, Skoglund K, Karlgren A, Soderkvist P, Peterson C, Kidhall I, et al. Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23. Pharmacogenet Genomics 2007; 17:891-895.
    • (2007) Pharmacogenet Genomics , vol.17 , pp. 891-895
    • Lindqvist, M.1    Skoglund, K.2    Karlgren, A.3    Soderkvist, P.4    Peterson, C.5    Kidhall, I.6
  • 15
    • 33847360477 scopus 로고    scopus 로고
    • Structural basis of allele variation of human thiopurine-S-methyl transferase
    • Wu H, Horton JR, Battaile K, Allali-Hassani A, Martin F, Zeng H, et al. Structural basis of allele variation of human thiopurine-S-methyltransferase. Proteins 2007; 67:198-208.
    • (2007) Proteins , vol.67 , pp. 198-208
    • Wu, H.1    Horton, J.R.2    Battaile, K.3    Allali-Hassani, A.4    Martin, F.5    Zeng, H.6
  • 16
    • 44149113487 scopus 로고    scopus 로고
    • Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics
    • Rutherford K, Daggett V. Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics. J Mol Biol 2008; 379:803-814.
    • (2008) J Mol Biol , vol.379 , pp. 803-814
    • Rutherford, K.1    Daggett, V.2
  • 19
    • 0020512528 scopus 로고
    • Childhood leukaemia: A relationship between intracellular 6-mercaptopurine metabolites and neutropenia
    • Lennard L, Rees CA, Lilleyman JS, Maddocks JL. Childhood leukaemia: a relationship between intracellular 6-mercaptopurine metabolites and neutropenia. Br J Clin Pharmacol 1983; 16:359-363.
    • (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
  • 21
    • 0033837392 scopus 로고    scopus 로고
    • Thiopurine methyltransferase polymorphic tandem repeat: Genotype-phenotype correlation analysis
    • Yan L, Zhang S, Eiff B, Szumlanski CL, Powers M, O'Brien JF, et al. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000; 68:210-219.
    • (2000) Clin Pharmacol Ther , vol.68 , pp. 210-219
    • Yan, L.1    Zhang, S.2    Eiff, B.3    Szumlanski, C.L.4    Powers, M.5    O'Brien, J.F.6
  • 22
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-3814.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 23
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 24
    • 37549024654 scopus 로고    scopus 로고
    • The Protein Data Bank: A historical perspective
    • Berman HM. The Protein Data Bank: a historical perspective. Acta Crystallogr A 2008; 64:88-95.
    • (2008) Acta Crystallogr A , vol.64 , pp. 88-95
    • Berman, H.M.1
  • 25
    • 0032693405 scopus 로고    scopus 로고
    • Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: Mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C
    • Tai HL, Fessing MY, Bonten EJ, Yanishevsky Y, D'Azzo A, Krynetski EY, et al. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics 1999; 9:641-650.
    • (1999) Pharmacogenetics , vol.9 , pp. 641-650
    • Tai, H.L.1    Fessing, M.Y.2    Bonten, E.J.3    Yanishevsky, Y.4    D'Azzo, A.5    Krynetski, E.Y.6
  • 26
    • 67650935283 scopus 로고    scopus 로고
    • TPMT*26 (208F->L): A novel mutation detected in a Chinese
    • Kham SK, Soh CK, Aw DC, Yeoh AE. TPMT*26 (208F-> L): a novel mutation detected in a Chinese. Br J Clin Pharmacol 2009; 68:120-123.
    • (2009) Br J Clin Pharmacol , vol.68 , pp. 120-123
    • Kham, S.K.1    Soh, C.K.2    Aw, D.C.3    Yeoh, A.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.