Characterization of novel CYP2A6 polymorphic alleles (CYP2A6*18 and CYP2A6*19) that affect enzymatic activity

Drug Metabolism and Disposition

Volumn 33, Issue 8, 2005, Pages 1202-1210

  Fukami, Tatsuki ^a   Nakajima, Miki ^a   Higashi, Eriko ^a   Yamanaka, Hiroyuki ^a   Sakai, Haruko ^a   McLeod, Howard L ^b   Yokoi, Tsuyoshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COTININE; COUMARIN; CYTOCHROME P450 2A6; FLUOROURACIL; NICOTINE; NICOTINE GUM; TEGAFUR;

3' UNTRANSLATED REGION; AFRICAN AMERICAN; ALLELE; AMINO ACID SEQUENCE; ARTICLE; BLOOD LEVEL; CAUCASIAN; COMPARATIVE STUDY; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; ETHNIC DIFFERENCE; ETHNIC GROUP; GENE FREQUENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYDROXYLATION; IN VITRO STUDY; IN VIVO STUDY; INTRON; NONHUMAN; NUCLEOTIDE SEQUENCE; OXIDATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

AFRICAN AMERICANS; ALLELES; ARYL HYDROCARBON HYDROXYLASES; ASIAN CONTINENTAL ANCESTRY GROUP; COTININE; ESCHERICHIA COLI; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENOTYPE; HUMANS; KINETICS; MIXED FUNCTION OXYGENASES; NICOTINE; POLYMORPHISM, SINGLE NUCLEOTIDE; SUBSTRATE SPECIFICITY; TEGAFUR; TRANSFORMATION, BACTERIAL;

ESCHERICHIA COLI;

EID: 22944465782     PISSN: 00909556     EISSN: None     Source Type: Journal    
DOI: 10.1124/dmd.105.004994     Document Type: Article

References (39)

1. Ariyoshi N, Sawamura Y, and Kamataki T (2001) A novel single nucleotide polymorphism altering stability and activity of CYP2A6. Biochem Biophys Res Commun 281:810-814.
2. Bradford A (1976) Rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254.
3. Daigo S, Takahashi Y, Fujieda M, Ariyoshi N, Yamazaki H, Koizumi W, Tanabe S, Saigenji K, Kagayama S, Ikeda K, et al. (2002) A novel mutant allele of the CYP2A6 gene (CYP2A6*11) found in a cancer patient who showed poor metabolic phenotype towards tegafur. Pharmacogenetics 12:299-306.
4. Fujieda M, Yamazaki H, Saito T, Kiyotani K, Gyamfi MA, Sakurai M, Dosaka-Akita H, Sawamura Y, Yokota J, Kunitoh H, et al. (2004) Evaluation of CYP2A6 genetic polymorphisms as determinants of smoking behavior and tobacco-related lung cancer risk in male Japanese smokers. Carcinogenesis 25:2451-2458.
5. Fukami T, Nakajima M, Higashi E, Yamanaka H, McLeod HL, and Yokoi T (2005) A novel CYP2A6*20 allele found in African-American population produces a truncated protein lacking enzymatic activity. Biochem Pharmacol, in press
6. Fukami T, Nakajima M, Yoshida R, Tsuchiya Y, Fujiki Y, Katoh M, McLeod HL, and Yokoi T (2004) A novel polymorphism of human CYP2A6 gene CYP2A6*17 has an amino acid substitution (V365M) that decreases enzymatic activity in vitro and in vivo. Clin Pharmacol Ther 76:519-527.
7. Iwata H, Fujita K, Kushida H, Suzuki A, Konno Y, Nakamura K, and Kamataki T (1998) High catalytic activity of human cytochrome P450 co-expressed with human NADPH-cytochrome P450 reductase in Escherichia coli. Biochem Pharmacol 55:1315-1325.
8. Kitagawa K, Kunugita N, Kitagawa M, and Kawamoto T (2001) CYP2A6*6, a novel polymorphism in cytochrome P450 2A6, has a single amino acid substitution (R128Q) that inactivates enzymatic activity. J Biol Chem 276:17830-17835.
9. Komatsu T, Yamazaki H, Shimada N, Nakajima M, and Yokoi T (2000) Roles of cytochrome P450 1A2, 2A6 and 2C8 in 5-fluorouracil formation from tegafur, an anticancer prodrug, in human liver microsomes. Drug Metab Dispos 28:1457-1463.
10. Komatsu T, Yamazaki H, Shimada N, Nagayama S, Kawaguchi Y, Nakajima M, and Yokoi T (2001) Involvement of microsomal cytochrome P450 and cytosolic thymidine phosphorylase in 5-fluorouracil formation from tegafur in human liver. Clin Cancer Res 7:675-681.
11. Kwon JT, Nakajima M, Chai S, Yom YK, Kim HK, Yamazaki H, Sohn DR, Yamamoto T, Kuroiwa Y, and Yokoi T (2001) Nicotine metabolism and CYP2A6 allele frequencies in Koreans. Pharmacogenetics 11:317-323.
12. Lewis DFV (1998) The CYP2 family: models, mutants and interactions. Xenobiotica 28:617-661.
13. Lewis DFV, Dickins M, Lake BG, Eddershaw PJ, Tarbit MH, and Goldfarb PS (1999) Molecular modeling of the human cytochrome P450 isoform CYP2A6 and investigations of CYP2A substrate selectivity. Toxicology 133:1-33.
14. Loriot MA, Rebuissou S, Oscarson M, Cenee S, Miyamoto M, Ariyoshi N, Kamataki T, Hemon D, Beaune P, and Stucker I (2001) Genetic polymorphisms of cytochrome P450 2A6 in a case-control study on lung cancer in a French population. Pharmacogenetics 11:39-44.
15. Minematsu N, Nakamura H, Iwata M, Tateno H, Nakajima T, Takahashi S, Fujishima S, and Yamaguchi K (2003) Association of CYP2A6 deletion polymorphism with smoking habit and development of pulmonary. Thorax 58:623-628.
16. Miyamoto M, Umetsu Y, Dosaka-Akita H, Sawamura Y, Yokota J, Kunitoh H, Nemoto N, Sato K, Ariyoshi N, and Kamataki T (1999) CYP2A6 gene deletion reduces susceptibility to lung cancer. Biochem Biophys Res Commun 261:658-660.
17. Nakajima M, Kuroiwa Y, and Yokoi T (2002) Interindividual differences in nicotine metabolism and genetic polymorphisms of human CYP2A6. Drug Metab Rev 34:865-877.
18. Nakajima M, Kwon J-T, Tanaka N, Zenta T, Yamamoto Y, Yamamoto H, Yamazaki H, Yamamoto T, Kuroiwa Y, and Yokoi T (2001) Relationship between interindividual differences in nicotine metabolism and CYP2A6 genetic polymorphism in humans. Clin Pharmacol Ther 68:72-78.
19. Nakajima M, Yamagishi S, Yamamoto H, Yamamoto T, Kuroiwa Y, and Yokoi T (2000a) Deficient cotinine formation from nicotine is attributed to the whole deletion of the CYP2A6 gene in humans. Clin Pharmacol Ther 67:57-69.
20. Nakajima M, Yamamoto T, Kuroiwa Y, and Yokoi T (2000b) Improved highly sensitive method for determination of nicotine and cotinine in human plasma by high-performance liquid chromatography. J Chromatogr B 742:211-215.
21. Nakajima M, Yamamoto T, Nunoya K-I, Yokoi T, Nagashima K, Inoue K, Funae Y, Shimada N, Kamataki T, and Kuroiwa Y (1996) Role of human cytochrome P4502A6 in C-oxidation of nicotine. Drug Metab Dispos 24:1212-1217.
22. Nakajima M, Yoshida R, Fukami T, McLeod HL, and Yokoi T (2004) Novel human CYP2A6 alleles confound gene deletion analysis. FEBS Lett 569:75-81.
23. Nunoya KI, Yokoi T, Kimura K, Kainuma T, Satoh K, Kinoshita M, and Kamataki T (1999a) A new CYP2A6 gene deletion responsible for the in vivo polymorphic metabolism of (+)-cis-3,5-dimethyl-2-(3-pyridyl)thiazolidin-4-one hydrochloride in humans. J Pharmacol Exp Ther 289:437-442.
24. Nunoya K, Yokoi T, Takahashi Y, Kimura K, Kinoshita M, and Kamataki T (1999b) Homologous unequal cross-over within the human CYP2A gene cluster as a mechanism for the deletion of entire CYP2A6 gene associated with the poor metabolizer phenotype. J Biochem 126:402-407.
25. Ohyama K, Nakajima M, Suzuki M, Shimada N, Yamazaki H, and Yokoi T (2000) Inhibitory effects of amiodarone and its N-deethylated metabolite on human cytochrome P450 activities: prediction of in vivo drug interactions. Br J Clin Pharmacol 49:244-253.
26. Omura T and Sato R (1964) The carbon monoxide-binding pigment of liver microsomes. J Biol Chem 239:2370-2378.
27. Oscarson M (2001) Genetic polymorphisms in the cytochrome P450 2A6 (CYP2A6) gene: implications for interindividual differences in nicotine metabolism. Drug Metab Dispos 29:91-95.
28. Oscarson M, McLellan RA, Asp V, Ledesma M, Ruiz MLB, Sinues B, Raunio A, and Ingelman-Sundberg M (2002) Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. Hum Mutat 20:275-283.
29. Oscarson M, McLellan RA, Gullstén H, Agúndez JAG, Benítez J, Raunio A, Raunio H, Pelkonen O, and Ingelman-Sundberg M (1999a) Identification and characterization of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism. FEBS Lett 460:321-327.
30. Oscarson M, McLellan RA, Gullstén H, Yue QY, Lang MA, Bernal ML, Sinues B, Hirvonen A, Raunio H, Pelkonen O, et al. (1999b) Characterization and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett 448:105-110.
31. Parikh A, Gillam EM, and Guengerich FP (1997) Drug metabolism by Escherichia coli expressing human cytochromes P450. Nat Biotechnol 15:784-788.
32. Pitarque M, von Richter O, Oke B, Berkkan H, Oscarson M, and Ingelman-Sundberg M (2001) Identification of a single nucleotide polymorphism in the TATA box of the CYP2A6 gene: impairment of its promoter activity. Biochem Biophys Res Commun 284:455-460.
33. Schoedel KA, Hoffmann EB, Rao Y, Seller EM, and Tyndale RF (2004) Ethnic variation in CYP2A6 and association of genetically slow nicotine metabolism and smoking in adult Caucasians. Pharmacogenetics 14:615-626.
34. Schulz TG, Ruhnau P, and Hallier E (2001) Lack of correlation between CYP2A6 genotype and smoking habits. Adv Exp Med Biol 500:213-215.
35. Williams CH Jr and Kamin H (1962) Microsomal triphosphopyridine nucleotide-cytochrome c reductase of liver. J Biol Chem 237:587-595.
36. Yamano S, Tatsuno J, and Gonzalez FJ (1990) The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes. Biochemistry 29:1322-1329.
37. Yasukochi Y and Masters BS (1976) Some properties of detergent- solubilized NADPH-cytochrome c (cytochrome P-450) reductase purified by biospecific affinity chromatography. J Biol Chem 251:5337-5344.
38. Yoshida R, Nakajima M, Nishimura K, Tokudome S, Kwon J-T, and Yokoi T (2003) Effects of polymorphism in promoter region of human CYP2A6 gene (CYP2A6*9) on expression level of messenger ribonucleic acid and enzymatic activity in vivo and in vitro. Clin Pharmacol Ther 74:69-76.
39. Yoshida R, Nakajima M, Watanabe Y, Kwon J-T, and Yokoi T (2002) Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism. Br J Clin Pharmacol 54:511-517.