Single nucleotide polymorphisms of the human CYP2A13 gene: Evidence for a null allele

Drug Metabolism and Disposition

Volumn 31, Issue 9, 2003, Pages 1081-1085

  Zhang, Xiuling ^b   Chen, Ying ^c   Liu, Yiqin ^c   Ren, Xiang ^c   Zhang, Qing Yu ^b   Caggana, Michele ^b   Ding, Xinxin ^a,b  

^a WADSWORTH CENTER   (United States)

^b STATE UNIVERSITY OF NEW YORK   (United States)

^c SHANDONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; CYSTINE; CYTOCHROME P450 2A1; CYTOCHROME P450 2A13; GLUTAMIC ACID; GLUTAMINE; NITROSAMINE; UNCLASSIFIED DRUG; XENOBIOTIC AGENT;

ARTICLE; ASIAN AMERICAN; CARCINOGENESIS; CAUCASIAN; CHINESE; CONTROLLED STUDY; CYP2A13 GENE; DNA FLANKING REGION; DRUG METABOLISM; ETHNIC GROUP; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; METABOLIC ACTIVATION; NEGRO; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NULL ALLELE; PRIORITY JOURNAL; RESPIRATORY SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TOBACCO; UNITED STATES; XENOBIOTIC METABOLISM;

ALLELES; ARYL HYDROCARBON HYDROXYLASES; GENE FREQUENCY; HAPLOTYPES; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

NICOTIANA TABACUM;

EID: 0041856513     PISSN: 00909556     EISSN: None     Source Type: Journal    
DOI: 10.1124/dmd.31.9.1081     Document Type: Article

References (21)

1. Ariyoshi N, Miyamoto M, Umetsu Y, Kunitoh H, Dosaka-Akita H, Sawamura Y, Yokota J, Nemoto N, Sato K, and Kamataki T (2002) Genetic polymorphism of CYP2A6 gene and tobacco-induced lung cancer risk in male smokers. Cancer Epidemiol Biomark Prev 11:890-894.
2. Fernandez-Salguero P, Hoffman SM, Cholerton S, Mohrenweiser H, Raunio H, Raunio A, Pelkonen O, Huang JD, Evans WE, Idle JR, and Gonzalez FJ (1995) A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Am J Hum Genet 57:651-660.
3. Gotoh O (1992) Substrate recognition sites in cytochrome P450 family 2 (CYP2) proteins inferred from comparative analyses of amino acid and coding nucleotide sequences. J Biol Chem 267:83-90.
4. Gu J, Su T, Chen Y, Zhang Q-Y, and Ding X (2000) Expression of biotransformation enzymes in human fetal olfactory mucosa: potential roles in developmental toxicity. Toxicol Appl Pharmacol 165:158-162.
5. Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, Ignatieva EV, Ananko EA, Podkolodnaya OA, Kolpakov FA, et al. (1998) Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 26:362-367.
6. Hoffman SMG, Nelson DR, and Keeney DS (2001) Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19. Pharmacogenetics 11:687-698.
7. Koskela S, Hakkola J, Hukkanen J, Pelkonen O, Sorri M, Saranen A, Anttila S, Fernandez-Salguero P, Gonzalez FJ, and Raunio H (1999) Expression of CYP2A genes in human liver and extrahepatic tissues. Biochem Pharmacol 57:1407-1413.
8. Mathews DH, Sabina J, Zuker M, and Turner DH (1999) Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J Mol Biol 288:911-940.
9. Newcombe R (1998) Two-sided confidence intervals for the single proportion: comparison of seven methods. Stat Med 17:857-872.
10. Nunoya K, Yokoi T, Kimura K, Inoue K, Kodama T, Funayama M, Nagashima K, Funae Y, Green C, Kinoshita M, and Kamataki T (1998) A new deleted allele in the human cytochrome P450 2A6 (CYP2A6) gene found in individuals showing poor metabolic capacity to coumarin and (+)-cis-3,5-dimethyl-2-(3-pyridyl)thiazolidin-4-one hydrochloride (SM-12502). Pharmacogenetics 8:239-249.
11. 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.
12. Oscarson M, McLellan RA, Gullsten H, Yue QY, Lang MA, Bernal ML, Sinues B, Hirvonen A, Raunio H, Pelkonen O, and Ingelman-Sundberg M (1999) Characterisation and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett 448:105-110.
13. Senapathy P, Shapiro MB, and Harris NL (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification and applications to genome project. Methods Enzymol 183:252-278.
14. Su T, Bao ZP, Zhang Q-Y, Smith TJ, Hong JY, and Ding X (2000) Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Cancer Res 60:5074-5079.
15. Szczesna-Skorupa E and Kemper B (2000) Endoplasmic reticulum retention determinants in the transmembrane and linker domains of cytochrome P4502C1. J Biol Chem 275:19409-19415.
16. Thier R, Bruning T, Roos PH, and Bolt HM (2002) Cytochrome P4501B1, a new keystone in gene-environment interactions related to human head and neck cancer? Arch Toxicol 76:249-256.
17. Williams PA, Cosme J, Sridhar V, Johnson EF, and McRee DE (2000) Mammalian microsomal cytochrome P450 monooxygenase: structural adaptations for membrane binding and functional diversity. Mol Cell 5:121-131.
18. Xu C, Goodz S, Sellers EA, and Tyndale RF (2002) CYP2A6 genetic variation and potential consequences. Adv Drug Delivery Rev 54:1245-1256.
19. Yoshida R, Nakajima M, Watanabe Y, Kwon JT, and Yokoi T (2002) Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism. Br J Clin Pharmacol 54:511-517.
20. Zhang X, Su T, Zhang Q-Y, Gu J, Caggana M, Li H, and Ding X (2002) Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant. J Pharmacol Exp Ther 302:416-423.
21. Zuker M, Mathews DH, and Turner DH (1999) Algorithms and thermodynamics for RNA secondary structure prediction: a practical guide, in RNA Biochemistry and Biotechnology (Barciszewski J and Clark BFC eds) pp 11-43, NATO ASI Series. Kluwer Academic Publishers, Norwell, MA.