Pharmacogenetics of the human arylamine N-acetyltransferases

Pharmacology

Volumn 61, Issue 3, 2000, Pages 204-211

  Grant, Denis M ^a,b   Goodfellow, Geoffrey H ^a   Sugamori, Kim S ^a   Durette, Kristi ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b Orchid Cellmark   (United States)

Author keywords

Acetylation; Arylamines; Biotransformation; Carcinogenesis; Detoxication; Metabolic activation; N acetyltransferases; Pharmacogenetics

Indexed keywords

AROMATIC AMINE; ARYLAMINE ACETYLTRANSFERASE; HETEROCYCLIC AMINE; HYDRAZINE DERIVATIVE; ISOENZYME;

DRUG ACETYLATION; ENZYME ACTIVITY; ENZYME POLYMORPHISM; ENZYME STABILITY; GENE LOCUS; GENETIC VARIABILITY; HUMAN; PHARMACOGENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0033824239     PISSN: 00317012     EISSN: None     Source Type: Journal    
DOI: 10.1159/000028402     Document Type: Review

References (68)

1. Meyer UA, Zanger UM: Molecular mechanisms of genetic polymorphisms of drug metabolism. Annu Rev Pharmacol Toxicol 1997; 37:269-296.
2. Grant DM, Hughes NC, Janezic SA, Goodfellow GH, Chen HJ, Gaedigk A, Yu VL, Grewal R: Human acetyltransferase polymorphisms. Mutat Res 1997;376:61-70.
3. Wormhoudt LW, Commandeur JN, Vermeulen NP: Genetic polymorphisms of human N-acetyltransferase, cytochrome P450, glutathione-S-transferase, and epoxide hydrolase enzymes: Relevance to xenobiotic metabolism and toxicity. Crit Rev Toxicol 1999;29:59-124.
4. Hein DW, Doll MA, Fretland AJ, Leff MA, Webb SJ, Xiao GH, Devanaboyina US, Nangju NA, Feng Y: Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Cancer Epidemiol Biomarkers Prev 2000;9:29-42.
5. Weber WW: The Acetylator Genes and Drug Response. New York, Oxford University Press, 1987.
6. Weber WW: Pharmacogenetics. New York, Oxford University Press, 1997.
7. Hein DW, Doll MA, Fretland AJ, Gray K, Deitz AC, Feng Y, Jiang W, Rustan TD, Satran SL, Wilkie TR Sr: Rodent models of the human acetylation polymorphism: Comparisons of recombinant acetyltransferases. Mutat Res 1997; 376:101-106.
8. Kalow W: Pharmacogenetics - Heredity and the Responses to Drugs. Philadelphia, Saunders, 1962.
9. Bailey DS, Bondar A, Furness LM: Pharmacogenomics - it's not just pharmacogenetics. Curr Opin Biotechnol 1998;9:595-601.
10. Grant DM: Pharmacogenomics and the changing face of clinical pharmacology. Can J Clin Pharmacol 1999;6:131-132.
11. Hughes HB, Biehl JP, Jones AP, Schmidt LH: Metabolism of isoniazid in man as related to the occurrence of peripheral neuritis. Am Rev Resp Dis 1954;70:266-273.
12. Evans DAP, Manley KA, McKusick VA: Genetic control of isoniazid metabolism in man. Br Med J 1960;ii:485-491.
13. Knight RA, Selin MJ, Harris HW: Genetic factors influencing isoniazid blood levels in humans. Trans Conf Chemother Tuberc 1959;8: 52-56.
14. Parker JM: Human variability in the metabolism of sulfamethazine. Hum Hered 1969;19: 402-409.
15. Peters JH, Levy L: Dapsone acetylation in man: Another example of polymorphic acetylation. Ann NY Acad Sci 1971;179:660-666.
16. Johnstone EC: Relationship between acetylator status and response to phenelzine. Mod Probl Pharmacopsychiatry 1975;10:30-37.
17. Arcavi L, Benowitz NL: Clinical significance of genetic influences on cardiovascular drug metabolism. Cardiovasc Drugs Ther 1993;7:311-324.
18. Reidenberg MM: The pharmacogenetics of antiarrhythmic drugs. Ann NY Acad Sci 1984; 432:69-74.
19. Grant DM, Tang BK, Kalow W: Polymorphic N-acetylation of a caffeine metabolite. Clin Pharmacol Ther 1983;33:355-359.
20. Weber WW, Hein DW: N-acetylation pharmacogenetics. Pharmacol Rev 1985;37:25-79.
21. Evans DAP, White TA: Human acetylation polymorphism. J Lab Clin Med 1964;63:394-403.
22. Minchin RF: Acetylation of p-aminobenzoylglutamate, a folic acid catabolite, by recombinant human arylamine N-acetyltransferase and U937 cells. Biochem J 1995;307:1-3.
23. Sim E, Ward A: A possible relationship between N-acetyltransferase and folate metabolism. Hum Exp Toxicol 1995;14:696-697.
24. Jenne JW: Partial purification and properties of the isoniazid transacetylase in human liver: Its relationship to the acetylation of p-aminosalicylic acid. J Clin Invest 1965;44:1992-2002.
25. Blum M, Grant DM, McBride W, Heim M, Meyer UA: Human arylamine N-acetyltransferase genes: Isolation, chromosomal localization, and functional expression. DNA Cell Biol 1990;9:193-203.
26. Grant DM, Blum M, Beer M, Meyer UA: Monomorphic and polymorphic human arylamine N-acetyltransferases: A comparison of liver isozymes and expressed products of two cloned genes. Mol Pharmacol 1991;39:184-191.
27. Hein DW, Doll MA, Rustan TD, Gray K, Feng Y, Ferguson RJ, Grant DM: Metabolic activation and deactivation of arylamine carcinogens by recombinant human NAT1 and polymorphic NAT2 acetyltransferases. Carcinogenesis 1993;14:1633-1638.
28. Hughes NC, Janezic SA, McQueen KL, Jewett MA, Castranio T, Bell DA, Grant DM: Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe. Pharmacogenetics 1998;8:55-66.
29. Lin HJ, Probst-Hensch NM, Hughes NC, Sakamoto GT, Louie AD, Kau IH, Lin BK, Lee DB, Lin J, Frankl HD, Lee ER, Hardy S, Grant DM, Haile RW: Variants of N-acetyltransferase NAT1 and a case-control study of colorectal adenomas. Pharmacogenetics 1998;8:269-281.
30. Minchin RF, Reeves PT, Teitel CH, McManus ME, Mojarrabi B, Ilett KF, Kadlubar FF: N- and O-acetylation of aromatic and heterocyclic amine carcinogens by human monomorphic and polymorphic acetyltransferases expressed in COS-1 cells. Biochem Biophys Res Commun 1992;185:839-844.
31. Hein DW, Rustan TD, Ferguson RJ, Doll MA, Gray K: Metabolic activation of aromatic and heterocyclic N-hydroxyarylamines by wildtype and mutant recombinant human NAT1 and NAT2 acetyltransferases. Arch Toxicol 1994;68:129-133.
32. Hein DW, Doll MA, Rustan TD, Ferguson RJ: Metabolic activation of N-hydroxyarylamines and N-hyrodxyarylamides by 16 recombinant human NAT2 allozymes: Effects of 7 specific NAT2 nucleic acid substitutions. Cancer Res 1995;55:3531-3536.
33. Andres HH, Klem AJ, Schopfer LM, Harrison JK, Weber WW: On the active site of liver acctyl-CoA: Arylamine N-acetyltransferase from rapid acetylator rabbits (III/J). J Biol Chem 1988;263:7521-7527.
34. Dupret JM, Grant DM: Site-directed mutagenesis of recombinant human arylamine N-acetyltransferase expressed in Escherichia coli: Evidence for direct involvement of Cys68 in the catalytic mechanism of polymorphic human NAT2. J Biol Chem 1992;267:7381-7385.
35. Dupret JM, Goodfellow GH, Janezic SA, Grant DM: Structure-function studies of human arylamine N-acetyltransferases NAT1 and NAT2. Functional analysis of recombinant NAT1/NAT2 chimeras expressed in Escherichia coli. J Biol Chem 1994;269:26830-26835.
36. Goodfellow GH, Dupret JM, Grant DM: Identification of amino acids imparting acceptor substrate selectivity to human arylamine acetyltransferases NAT1 and NAT2. Biochem J 2000;348:159-166.
37. Hickman D, Pope J, Patil SD, Fakis G, Smelt V, Stanley LA, Payton M, Unadkat JD, Sim E: Expression of arylamine N-acetyltransferase in human intestine. Gut 1998;42:402-409.
38. Cribb AE, Grant DM, Miller MA, Spielberg SP: Expression of monomorphic arylamine N-acetyltransferase (NAT1) in human leukocytes. J Pharmacol Exp Ther 1991;254:1241-1246.
39. Ward A, Hickman D, Gordon JW, Sim E: Arylamine N-acetyltransferase in human red blood cells. Biochem Pharmacol 1992;44: 1099-1104.
40. Agundez JA, Martinez C, Olivera M, Gallardo L, Ladero JM, Rosado C, Prados J, Rodriguez-Molina J, Resel L, Benitez J: Expression in human prostate of drug- and carcinogen-metabolizing enzymes: Association with prostate cancer risk. Br J Cancer 1998;78:1361-1367.
41. Sadrich N, Davis CD, Snyderwine EG: N-acetyltransferase expression and metabolic activation of the food-derived heterocyclic amines in the human mammary gland. Cancer Res 1996; 56:2683-2687.
42. Derewlany LO, Knie B, Koren G: Arylamine N-acetyltransferase activity of the human placenta. J Pharmacol Exp Ther 1994;269:756-760.
43. Bell DA, Badawi AF, Lung NP, Ilett KF, Kadlubar FF, Hirvonen A: Polymorphism in the N-acetyltransferase 1 (NAT1) polyadenylation signal: association of NAT1*10 allele with higher N-acetylation activity in bladder and colon tissue. Cancer Res 1995;55:5226-5229.
44. Wang CY, Debiec-Rychter M, Schut HA, Morse P, Jones RF, Archer C, King CM, Haas GP: N-Acetyltransferase expression and DNA binding of N-hydroxyheterocyclic amines in human prostate epithelium. Carcinogenesis 1999;20:1591-1595.
45. Windmill KF, Gaedigk A, Hall PM, Samaratunga H, Grant DM, McManus ME: Localization of N-acetyltransferases NAT1 and NAT2 in human tissues. Toxicol Sci 2000;54:19-29.
46. www.louisville.edu/medschool/pharmacology/ NAT.html.
47. Hickman D, Risch A, Buckle V, Spurr NK, Jeremiah SJ, McCarthy A, Sim E: Chromosomal localization of human genes for arylamine N-acetyltransferase. Biochem J 1994;297:441-445.
48. Hein DW, Ferguson RJ, Doll MA, Rustan TD, Gray K: Molecular genetics of human polymorphic N-acetyltransferase: Enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes. Hum Mol Genet 1994;3: 729-734.
49. Leff MA, Fretland AJ, Doll MA, Hein DW: Novel human N-acetyltransferase 2 alleles that differ in mechanism for slow acetylator phenotype. J Biol Chem 1999;274:34519-34522.
50. Grant DM, Morike K, Eichelbaum M, Meyer UA: Acetylation pharmacogenetics: The slow acetylator phenotype is caused by decreased or absent arylamine N-acetyltransferase in human liver. J Clin Invest 1990;85:968-972.
51. Delomenie C, Sica L, Grant DM, Krishnamoorthy R, Dupret JM: Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations. Pharmacogenetics 1996;6:177-185.
52. Cascorbi I, Roots I: Pitfalls in N-acetyltransferase 2 genotyping. Pharmacogenetics 1999;9: 123-127.
53. Bruhn C, Brockmoller J, Cascorbi I, Roots I, Borchert HH: Correlation between genotype and phenotype of the human arylamine N-acetyltransferase type 1 (NAT1). Biochem Phamacol 1999;58:1759-1764.
54. Lower GM Jr, Nilsson T, Nelson CE, Wolf H, Gamsky TE. Bryan GT: N-acetyltransferase phenotype and risk in urinary bladder cancer: Approaches in molecular epidemiology: Preliminary results in Sweden and Denmark. Environ Health Perspect 1979;29:71-79.
55. Cartwright RA, Glashan RW, Rogers HJ, Ahmad RA, Barham-Hall D, Higgins E, Kahn MA: Role of N-acetyltransferase phenotypes in bladder carcinogenesis: A pharmacogenetic epidemiological approach to bladder cancer. Lancet 1982;ii:842-845.
56. Risch A, Wallace DM, Bathers S, Sim E: Slow N-acetylation genotype is a susceptibility factor in occupational and smoking related bladder cancer. Hum Mol Genet 1995;4:231-236.
57. Brockmoller J, Cascorbi I, Kerb R, Roots I: Combined analysis of inherited polymorphisms in arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1, microsomal epoxide hydrolase, and cytochrome P450 enzymes as modulators of bladder cancer risk. Cancer Res 1996;56:3915-3925.
58. Okkels H, Sigsgaard T, Wolf H, Autrup H: Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: The influence of smoking. Cancer Epidemiol Biomarkers Prev 1997;6:225-231.
59. Filiadis IF, Georgiou I, Alamanos Y, Kranas V, Giannakopoulos X, Lolis D: Genotypes of N-acetyltransferase-2 and risk of bladder cancer: A case-control study. J Urol 1999;161:1672-1675.
60. Roberts-Thomson IC, Ryan P, Khoo KK, Hart WJ, McMichael AJ, Butler RN: Diet, acetylator phenotype, and risk of colorectal neoplasia. Lancet 1996;347:1372-1374.
61. Chen J, Stampfer MJ, Hough HL, Garcia-Closas M, Willett WC, Hennekens CH, Kelsey KT, Hunter DJ: A prospective study of N-acetyltransferase genotype, red meat intake, and risk of colorectal cancer. Cancer Res 1998;58: 3307-3311.
62. Kampman E, Slattery ML, Bigler J, Leppert M, Samowitz W, Caan BJ, Potter JD: Meat consumption, genetic susceptibility, and colon cancer risk: A United States multicenter case-control study. Cancer Epidemiol Biomarkers Prev 1999;8:15-24.
63. Taylor JA, Umbach DM, Stephens E, Castranio T, Paulson D, Robertson C, Mohler JL, Bell DA: The role of N-acetylation polymorphisms in smoking-associated bladder cancer: Evidence of a gene-gene-exposure three-way interaction. Cancer Res 1998;58:3603-3610.
64. Katoh T, Inatomi H, Yang M, Kawamoto T, Matsumoto T, Bell DA: Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) genes and risk of urothelial transitional cell carcinoma among Japanese. Pharmacogenetics 1999;9: 401-404.
65. Bell DA, Stephens EA, Castranio T, Umbach DM, Watson M, Deakin M, Elder J, Hendrickse C, Duncan H, Strange RC: Polyadenylation polymorphism in the acetyltransferase 1 gene (NAT1) increases risk of colorectal cancer. Cancer Res 1995;55:3537-3542.
66. Probst-Hensch NM, Haile RW, Li DS, Sakamoto GT, Louie AD, Lin BK, Frankl HD, Lee ER, Lin HJ: Lack of association between the polyadenylation polymorphism in the NAT1 (acetyltransferase 1) gene and colorectal adenomas. Carcinogenesis 1996;17:2125-2129.
67. Smelt VA, Mardon HJ, Sim E: Placental expression of arylamine N-acetyltransferases: Evidence for linkage disequilibrium between NAT1*10 and NAT2*4 alleles of the two human arylamine N-acetyltransferase loci NAT1 and NAT2. Pharmacol Toxicol 1998;83:149-157.
68. Caporaso N, Goldstein A: Cancer genes: Single and susceptibility: exposing the difference. Pharmacogenetics 1995;5:59-63.