Very important pharmacogene summary: Thiopurine S-methyltransferase

Pharmacogenetics and Genomics

Volumn 20, Issue 6, 2010, Pages 401-405

  Wang, Liewei ^a   Pelleymounter, Linda ^a   Weinshilboum, Richard ^a   Johnson, Julie A ^a   Hebert, Joan M ^b   Altman, Russ B ^b,c   Klein, Teri E ^b  

^a MAYO CLINIC   (United States)

^b STANFORD UNIVERSITY   (United States)

^c Stanford University   (United States)

Author keywords

Acute lymphoblastic leukemia; Pharmacogenetics; Pharmacogenomics; Polymorphism; Thiopurine drugs

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; MERCAPTOPURINE; THIOGUANOSINE; THIOPURINE METHYLTRANSFERASE; UBIQUITIN CONJUGATING ENZYME E2;

ACUTE LYMPHOCYTIC LEUKEMIA; AFRICAN AMERICAN; BONE MARROW SUPPRESSION; CAUCASIAN; ENZYME ACTIVITY; GENE EXPRESSION; GENE FREQUENCY; GENE LOCATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN FOLDING; REVIEW; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; GENE FREQUENCY; GENETIC VARIATION; HAPLOTYPES; HUMANS; METHYLTRANSFERASES; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 77950343855     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283352860     Document Type: Review

References (46)

1. 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.
2. Woodson LC, Weinshilboum RM. Human kidney thiopurine methyltransferase. Purification and biochemical properties. Biochem Pharmacol 1983; 32:819-826.
3. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32:651-662.
4. Allan PW, Bennett LL Jr. 6-Methylthioguanylic acid, a metabolite of 6-thioguanine. Biochem Pharmacol 1971; 20:847-852.
5. Krynetski E, Evans WE. Drug methylation in cancer therapy: lessons from the TPMT polymorphism. Oncogene 2003; 22:7403-7413.
6. Lennard L, Van Loon JA, Lilleyman JS, Weinshilboum RM. Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. Clin Pharmacol Ther 1987; 41:18-25.
7. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990; 336:225-229.
8. 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.
9. Evans WE, Horner 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.
10. Evans WE, Hon YY, Bomgaars L, Coutre S, Holdsworth M, Janco R, et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol 2001; 19:2293-2301.
11. Van Loon JA, Weinshilboum RM. Thiopurine methyltransferase biochemical genetics: human lymphocyte activity. Biochem Genet 1982; 20:637-658.
12. 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.
13. Stanulla M, Schaeffeler E, Flohr T, Cario G, Schrauder A, Zimmermann M, et al. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA 2005; 293:1485-1489.
14. Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, et al. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol 1996; 15:17-30.
15. Lee D, Szumlanski C, Houtman J, Honchel R, Rojas K, Overhauser J, et al. Thiopurine methyltransferase pharmacogenetics. Cloning of human liver cDNA and a processed pseudogene on human chromosome 18q21.1. Drug Metab Dispos 1995; 23:398-405.
16. Garat A, Cauffiez C, Renault N, Lo-Guidice JM, Allorge D, Chevalier D, et al. Characterisation of novel defective thiopurine S-methyltransferase allelic variants. Biochem Pharmacol 2008; 76:404-415.
17. Ujiie S, Sasaki T, Mizugaki M, Ishikawa M, Hiratsuka M. Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2-*24). Pharmacogenet Genomics 2008; 18:887-893.
18. Salavaggione OE, Wang L, Wiepert M, Yee VC, Weinshilboum RM. Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics. Pharmacogenet Genomics 2005; 15:801-815.
19. Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynetskaia NF, 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; 58:694-702.
20. Hon YY, Fessing MY, Pui CH, Relling MV, Krynetski EY, Evans WE. Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum Mol Genet 1999; 8:371-376.
21. Ameyaw MM, Collie-Duguid ES, Powrie RH, Ofori-Adjei D, McLeod HL. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999; 8:367-370.
22. McLeod HL, Pritchard SC, Githang'a J, Indalo A, Ameyaw MM, Powrie RH, et al. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics 1999; 9:773-776.
23. Collie-Duguid ES, Pritchard SC, Powrie RH, Sludden J, Collier DA, Li T, McLeod HL. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 1999; 9:37-42.
24. Oliveira E, Quental S, Alves S, Amorim A, Prata MJ. Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. Eur J Clin Pharmacol 2007; 63:703-706.
25. Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV, Evans WE. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci USA 1995; 92:949-953.
26. Tai HL, Krynetski EY, Schuetz EG, Yanishevski Y, Evans WE. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. Proc Natl Acad Sci USA 1997; 94:6444-6449.
27. Wang L, Sullivan W,Toft D,Weinshilboum R. Thiopurine S-methyltransferase pharmacogenetics: chaperone protein association and allozyme degradation. Pharmacogenetics 2003; 13:555-564.
28. Wang L, Nguyen TV, McLaughlin RW, Sikkink LA, Ramirez-Alvarado M, Weinshilboum RM. Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. Proc Natl Acad Sci USA 2005; 102:9394-9399.
29. Li F, Wang L, Burgess RJ, Weinshilboum RM. Thiopurine S-methyltransferase pharmacogenetics: autophagy as a mechanism for variant allozyme degradation. Pharmacogenet Genomics 2008; 18:1083-1094.
30. 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.
31. Otterness DM, Szumlanski CL, Wood TC, Weinshilboum RM. Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J Clin Invest 1998; 101:1036-1044.
32. Roberts RL, Gearry RB, Bland MV, Sies CW, George PM, Burt M, et al. Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity. Pharmacogenet Genomics 2008; 18:434-438.
33. Spire-Vayron de la Moureyre C, Debuysere H, Fazio F, Sergent E, Bernard C, Sabbagh N, et al. Characterization of a variable number tandem repeat region in the thiopurine S-methyltransferase gene promoter. Pharmacogenetics 1999; 9:189-198.
34. Alves S, Amorim A, Ferreira F, Prata MJ. Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin Pharmacol Ther 2001; 70:165-174.
35. Alves S, Ferreira F, Prata MJ, Amorim A. Characterization of three new VNTR alleles in the promoter region of the TPMT gene. Hum Mutat 2000; 15:121.
36. Yan L, Zhang S, Eiff B, Szumlanski CL, Powers M, O'Brien JF, Weinshilboum RM. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000; 68:210-219.
37. Marinaki AM, Arenas M, Khan ZH, Lewis CM, Shobowale-Bakre el M, Escuredo E, et al. Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians. Pharmacogenetics 2003; 13:97-105.
38. Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah JO, et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 1997; 62:60-73.
39. Spire-Vayron de la Moureyre C, Debuysere H, Sabbagh N, Marez D, Vinner E, Chevalier ED, et al. Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis. Hum Mutat 1998; 12:177-185.
40. Hamdan-Khalil R, Allorge D, Lo-Guidice JM, Cauffiez C, Chevalier D, Spire C, et al. In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase. Biochem Biophys Res Commun 2003; 309:1005-1010.
41. Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics 2004; 14:407-417.
42. Schaeffeler E, Stanulla M, Greil J, Schrappe M, Eichelbaum M, Zanger UM, Schwab M. A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. Leukemia 2003; 17:1422-1424.
43. Hamdan-Khalil R, Gala JL, Allorge D, Lo-Guidice JM, Horsmans Y, Houdret N, Broly F. Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT*16 and TPMT*19. Biochem Pharmacol 2005; 69:525-529.
44. Sasaki T, Goto E, Konno Y, Hiratsuka M, Mizugaki M. Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals. Drug Metab Pharmacokinet 2006; QJ;21:332-336.
45. Schaeffeler E, Eichelbaum M, Reinisch W, Zanger UM, Schwab M. Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22)-association with decreased enzyme function. Hum Mutat 2006; 27:976.
46. Lindqvist M, Skoglund K, Karlgren A, Soderkvist P, Peterson C, Kidhall I, Almer S. 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.