A Nicotine C-Oxidase Gene (CYP2A6) Polymorphism Important for Promoter Activity

Human Mutation

Volumn 23, Issue 3, 2004, Pages 258-266

  Pitarque, Marià ^a,b   Von Richter, Oliver ^a,c   Rodríguez Antona, Cristina ^a   Wang, Jue ^a   Oscarson, Mikael ^a,d   Ingelman Sundberg, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF MILAN   (Italy)

^c ALTANA Pharma   (Germany)

^d UNIVERSITY OF BASEL   (Switzerland)

Author keywords

CYP2A6; Cytochrome P450; DNA binding; Nicotine C oxidase DASH; Promoter; SNP; Transcription factor

Indexed keywords

CYTOCHROME P450 2A6; DNA; LUCIFERASE; NICOTINE C OXIDASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; DNA BINDING; DNA FLANKING REGION; DYNAMIC ALLELE SPECIFIC HYBRIDIZATION; ENZYME ACTIVITY; ENZYME ASSAY; GEL MOBILITY SHIFT ASSAY; GENE IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HYBRIDIZATION; LIVER METABOLISM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

5' FLANKING REGION; ALLELES; ARYL HYDROCARBON HYDROXYLASES; CARCINOMA, HEPATOCELLULAR; CELL LINE, TUMOR; DNA; DNA, NEOPLASM; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENOTYPE; HAPLOTYPES; HUMANS; LIVER; LIVER NEOPLASMS; MIXED FUNCTION OXYGENASES; NUCLEIC ACID HYBRIDIZATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); PROTEIN BINDING; RNA, MESSENGER;

EID: 1542724511     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20002     Document Type: Article

References (31)

1. Ariyoshi N, Takahashi Y, Miyamoto M, Umetsu Y, Daigo S, Tateishi T, Kobayashi S, Mizorogi Y, Loriot MA, Stucker I, Beaune P, Kinoshita M, Kamataki T 2000. Structural characterization of a new variant of the CYP2A6 gene (CYP2A6*1B) apparently diagnosed as heterozygotes of CYP2A6*1A and CYP2A6*4C. Pharmacogenetics 10:687-693.
2. Chang SF, Chung BC. 1995. Difference in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 9:1330-1336.
3. Chin KK, Chang SF. 1998. The 104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction. Nucleic Acids Res 26:1959-1964.
4. Dignam JD, Lebovitz RM, Roeder RG. 1983. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res 11:1475-1489.
5. Howell WM, Jobs M, Gyllensten U, Brookes AJ. 1999. Dynamic allele-specific hybridization. A new method for scoring single nucleotide polymorphisms. Nat Biotechnol 17:87-88.
6. King LM, Ma J, Srettabunjong S, Graves J, Bradbury JA, Li L, Spiecker M, Liao JK, Mohrenweiser H, Zeldin DC. 2002. Cloning of CYP2J2 gene and identification of functional polymorphisms. Mol Pharmacol 61:840-852.
7. Kwon JT, Nakajima M, Chai S, Yom YK, Kim HK, Yamazaki H, Sohn DR, Yamamoto T, Kuroiwa Y, Yokoi T 2001. Nicotine metabolism and CYP2A6 allele frequencies in Koreans. Pharmacogenetics 11:317-323.
8. Le Jossic C, Glaise D, Corcos L, Diot C, Dezier JF, Fautrel A, Guguen-Guillouzo C. 1996. trans-Acting factors, detoxication enzymes and hepatitis B virus replication in a novel set of human hepatoma cell lines. Eur J Biochem 238:400-409.
9. Messina ES, Tyndale RF, Sellers EM. 1997. A major role for CYP2A6 in nicotine C-oxidation by human liver microsomes. J Pharmacol Exp Ther 282:1608-1614.
10. Miles JS, Moss JE, Meehan RR, Wolf CR. 1990. Close linkage of the cytochrome P450IIA gene subfamily (Cyp2a) to Cyp2b and Coh on mouse chromosome 7. Genomics 7:445-448.
11. Nakajima M, Yamamoto T, Nunoya K, Yokoi T, Nagashima K, Inoue K, Funae Y, Shimada N, Kamataki T, Kuroiwa Y. 1996a. Characterization of CYP2A6 involved in 3′-hydroxylation of cotinine in human liver microsomes. J Pharmacol Exp Ther 277:1010-1015.
12. Nakajima M, Yamamoto T, Nunoya K, Yokoi T, Nagashima K, Inoue K, Funae Y, Shimada N, Kamataki T, Kuroiwa Y. 1996b. Role of human cytochrome P4502A6 in C-oxidation of nicotine. Drug Metab Dispos 24:1212-1217.
13. Nakajima M, Yokoi T, Mizutani M, Kinoshita M, Funayama M, Kamataki T 1999. Genetic polymorphism in the 5′-flanking region of human CYP1A2 gene: effect on the CYP1A2 inducibility in humans. J Biochem (Tokyo) 125:803-808.
14. Nunoya K, Yokoi T, Kimura K, Inoue K, Kodama T, Funayama M, Nagashima K, Funae Y, Green C, Kinoshita M, 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.
15. Oscarson M, McLellan RA, Gullsten H, Agundez JA, Benitez J, Rautio A, Raunio H, Pelkonen O, Ingelman-Sundberg M. 1999a. Identification and characterisation of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism. FEBS Lett 460:321-327.
16. Oscarson M, McLellan RA, Gullsten H, Yue QY, Lang MA, Bernal ML, Sinues B, Hirvonen A, Raunio H, Pelkonen O, Ingelman-Sundberg M. 1999b. Characterisation and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett 448:105-110.
17. 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.
18. Oscarson M, McLellan RA, Asp V, Ledesma M, Ruiz ML, Sinues B, Rautio A, Ingelman-Sundberg M. 2002. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. Hum Mutat 20:275-283.
19. Pelkonen O, Rautio A, Raunio H, Pasanen M. 2000. CYP2A6: a human coumarin 7-hydroxylase. Toxicology 144:139-147.
20. Pitarque M, von Richter O, Oke B, Berkkan H, Oscarson M, 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.
21. Prince JA, Feuk L, Howell WM, Jobs M, Emahazion T, Blennow K, Brookes AJ. 2001. Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation. Genome Res 11:152-162.
22. Raunio H, Rautio A, Gullsten H, Pelkonen O. 2001. Polymorphisms of CYP2A6 and its practical consequences. Br J Clin Pharmacol 52:357-363.
23. Sachse C, Brockmoller J, Bauer S, Roots I. 1999. Functional significance of a C- > A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol 47:445-449.
24. Ujjin P, Satarug S, Vanavanitkun Y, Daigo S, Ariyoshi N, Yamazaki H, Reilly PE, Moore MR, Kamataki T 2002. Variation in coumarin 7-hydroxylase activity associated with genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores in adult Thai males and females. Pharmacogenetics 12:241-249.
25. Westlind A, Lofberg L, Tindberg N, Andersson TB, Ingelman-Sundberg M. 1999. Interindividual differences in hepatic expression of CYP3A4: relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem Biophys Res Commun 259:201-205.
26. Wingender E, Chen X, Hehl R, Karas H, Liebich I, Matys V, Meinhardt T, Pruss M, Reuter I, Schacherer F. 2000. TRANSFAC: an integrated system for gene expression regulation. Nucleic Acids Res 28:316-319.
27. Yamano S, Tatsuno J, Gonzalez FJ. 1990. The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes. Biochemistry 29:1322-1329.
28. Yoshida R, Nakajima M, Watanabe Y, Kwon JT, Yokoi T 2002. Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism. Br J Clin Pharmacol 54:511-517.
29. Yoshida R, Nakajima M, Nishimura K, Tokudome S, Kwon J-T, 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.
30. Yun CH, Shimada T, Guengerich FP. 1991. Purification and characterization of human liver microsomal cytochrome P-450 2A6. Mol Pharmacol 40:679-685.
31. Zhang P, Sheng H, Morabia A, Gilliam TC. 2003. Optimal Step Length EM Algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping. BMC Bioinformatics 4:3.