Genetic analysis of the human cytochrome P450 CYP2C9 locus

Pharmacogenetics

Volumn 6, Issue 5, 1996, Pages 429-439

  Stubbins, Michael J ^a   Harries, Lorna W ^a   Smith, Gillian ^a   Tarbit, Michael H ^b   Wolf, C Roland ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b GLAXOSMITHKLINE   (United Kingdom)

Author keywords

Cytochrome P450 CYP2C9; Drug metabolism; Genetic polymorphism; Polymerase chain reaction

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME P450 ISOENZYME; DNA; NONSTEROID ANTIINFLAMMATORY AGENT; PHENYTOIN; TOLBUTAMIDE; WARFARIN;

ALLELE; ARTICLE; CAUCASIAN; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DRUG METABOLISM; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; ARYL HYDROCARBON HYDROXYLASES; CODON; CYTOCHROME P-450 ENZYME SYSTEM; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GREAT BRITAIN; HUMANS; MOLECULAR SEQUENCE DATA; PHARMACEUTICAL PREPARATIONS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; STEROID 16-ALPHA-HYDROXYLASE; STEROID HYDROXYLASES;

EID: 0029798351     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-199610000-00007     Document Type: Article

References (43)

1. Daly AK, Brockmöller J, Broly F, Eichelbaum M, Evans WE, Gonzalez FJ, Huang JD, Idle JR, Ingelman-Sundberg M, Ishizaki T, Jacqz-Aigrain E, Meyer UA, Nebert DW, Steen VM, Wolf CR, Zanger UM. Nomenclature for human CYP2D6 alleles. Pharmacogenetics 1996: 6, 193-201.
2. de Morals SMF, Schweikl H, Blaisdell J, Goldstein JA. Gene structure and upstream regulatory regions of human CYP2C9 and CYP2C18. Biochem Biophys Res Commun 1993: 194, 194-201.
3. de Morais SMF, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem 1994a: 269, 15419-15422.
4. de Morais SMF, Wilkinson GR, Blaisdell J, Meyer UA, Nakamura K, Goldstein JA. Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. Mol Pharmacol 1994b: 46, 594-598.
5. Furuya H, Fernandez-Salguero P, Gregory W, Taber H, Steward A, Gonzalez FJ, Idle JR. Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy. Pharmacogenetics 1995: 5, 389-392.
6. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet 1991: 48, 943-950.
7. Ged C, Umbenhauer DR, Bellew TM, Bork RW, Srivastava PK, Shinriki N, Lloyd RS, Guengerich FP. Characterisation of cDNAs, mRNAs, and proteins related to human liver microsomal cytochrome P-450 (S)-mephenytoin 4′-Hydroxylase. Biochemistry 1988: 27, 6929-6940.
8. Gibson GG, Skett P. Introduction to drug metabolism, 2nd edition. London: Chapman and Hall, 1994.
9. Goldstein JA, Faletto MB, Romkes-Sparks M, Sullivan T, Kitareewan S, Raucy JL, Lasker JM, Ghanayem BI. Evidence that CYP2C19 is the major (S)-mephenytoin 4′-hydroxylase in humans. Biochemistry 1994: 33, 1743-1752.
10. Goldstein JA, de Morais SMF. Biochemistry and molecular biology of the human CYP2C subfamily. Pharmacogenetics 1994: 4, 285-299.
11. Gotoh O. Substrate recognition sites in cytochrome P450 family 2 (CYP2) proteins inferred from comparative analyses of amino acid and coding nucleotide sequences.J Biol Chem 1992: 267, 83-90.
12. Gough AC, Miles JS, Spurr NK, Moss JE, Gaedigk A, Eichelbaum M, Wolf CR. Identification of the primary gene defect at the cytochrome P-450 CYP2D locus. Nature 1990: 347, 773-776.
13. Gray IC, Nobile C, Moresu R, Ford S, Spurr NK. A 2.4-megabyte physical map spanning the CYP2C gene cluster on chromosome 10q24. Genomics 1995: 28, 328-332.
14. 1934 to A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site. Am J Hum Genet 1990: 47, 994-1001.
15. Hayashi S, Watanabe J, Nakachi K, Kawajiri K. Genetic linkage of lung cancer-associated Msp I polymorphisms with amino acid replacement in the haem binding region of the human cytochrome P450 CYP1A1 gene. J Biochem 1991a: 110, 407-411.
16. Hayashi S, Watanabe J, Kawajiri K. Genetic polymorphisms in the 5′-flanking region change transcriptional regulation of the human cytochrome P450IIE1. J Biochem 1991b: 110, 559-565.
17. Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer UA. Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. J Biol Chem 1990: 265, 17209-17214.
18. Kalow W, Bertilsson L. Interethnic factors affecting drug response. Adv Drg Res 1994: 25, 1-53.
19. Kaminsky LS, de Morais SMF, Faletto MB, Dunbar DA, Goldstein JA. Correlation of human cytochrome P4502C substrate specificities with primary structure: Warfarin as a probe. Mol Pharmacol 1993: 43, 234-239.
20. Kawajiri K, Nakachi K, Imai K, Yoshii A, Shinoda N, Watanabe J. Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P4501A1 gene. FEBS Lett 1990: 263, 131-133.
21. Kimura S, Pastewka J, Gelboin HV, Gonzalez FJ. cDNA and amino acid sequence of two members of the human P450IIC gene subfamily. Nucleic Acids Res 1987: 15, 10053-10054.
22. Kutt H, Wolk M, Scherman R, McDowell F. Insufficient para-hydroxylation as a cause of diphenylhydantoin toxicity. Neurol 1964: 14, 542-548.
23. Lindberg RLP, Negishi M. Alteration of mouse cytochrome P450coh substrate specificity by mutation of a single amino-acid residue. Nature 1989: 339, 632-634.
24. Meehan RR, Gosden JR, Rout D, Hastie ND, Friedberg T, Adesnik M, Buckland R, van Heyningen V, Fletcher J, Spurr NK, Sweeney J, Wolf CR. Human cytochrome P-450 PB-1: A multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10. Am J Hum Genet 1988: 42, 26-37.
25. Miners JO, Rees DLP, Valente L, Veronese ME, Birkett DJ. Human hepatic cytochrome P450 2C9 catalyzes the rate limiting pathway of Torsemide metabolism. J Pharacol Exp Ther 1995:272, 1076-1081.
26. Nelson DR, Kamataki T, Waxman DJ, Guengerich FP, Estabrook RW, Feyereisen R, Gonzalez FJ, Coon MJ, Gunsalus IC, Gotoh O, Okuda K, Nebert DW. The P450 superfamily: Update on new sequences, gene mapping, early trivial names of enzymes, and nomenclature. DNA Cell Biol 1993: 12, 1-51.
27. Page MA, Boutagy JS, Shenfleld GM. A screening test for slow metabolisers of tolbutamide. Br J Clin Pharmacol 1991: 31, 649-654.
28. Rettie AE, Korzekwa KR, Kunze KL, Lawrence RF, Eddy AC, Aoyama T, Gelboin HV, Gonzalez FJ, Trager WF. Hydroxy-lation of warfarin by human cDNA-expressed cytochrome P450: A role for P-4502C9 in the etiology of (S)-warfarin drug interactions. Chem Res Toxicol 1992: 5, 54-59.
29. Rettie AE, Wienkers LC, Gonzalez FJ, Trager WF, Korzekwa KR. Impaired (S)-warfarin metabolism catalysed by the R144C allelic variant of CYP2C9. Pharmacogenetics 1994: 4, 39-42.
30. Romkes R, Faletto MB, Blaisdell JA, Raucy JL, Goldstein JA. Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily. Biochemistry 1991: 30, 3247-3255.
31. Scott J, Poffenbarger PL. Pharmacogenetics of Tolbutamide metabolism in humans. Diabetes 1979: 28, 41-51.
32. Smith CAD, Gough AC, Leigh PN, Summers BA, Harding AE, Maranganore DM, Sturman SG, Schapira AHV, Williams AC, Spurr NK, Wolf CR. Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. Lancet 1992: 339, 1375-1377.
33. Smith G, Stanley LA, Sim E, Strange RC, Wolf CR. Metabolic polymorphisms and cancer susceptibility. Cancer Surveys 1995: 25, 27-66.
34. Spurr NK, Gough AC, Stevenson K, Wolf CR. Msp I polymorphism detected with a cDNA probe for the P450I family on chromosome 15. Nucleic Acids Res 1987: 15, 5901.
35. Uematsu F, Kikuchi H, Abe T, Motomiya K, Omatchi T, Sagami I, Watanabe M. Msp I polymorphism of the human CYP2E1 gene. Nucleic Acids Res 1991: 19, 5797.
36. Umbenhauer DR, Martin MV, Lloyd RS, Guengerich FP. Cloning and sequence determination of a complementary DNA related to human liver microsomal cytochrome P-450 S-mephenytoin 4-hydroxylase. Biochemistry 1987: 26, 1094-1099.
37. Vasko MR, Bell RD, Daly DD, Pippenger CE. Inheritance of phenytoin hypometabolism: A kinetic study of one family. Clin Pharmacol Ther 1980: 27, 96-103.
38. Vermeij P, Ferrari MD, Buruma OJS, Veenema H, de Wolff FA. Inheritance of poor phenytoin parahydoxylation capacity in a Dutch family. Clin Pharmacol Ther 1988: 44, 588-593.
39. Veronese ME, Mackenzie PI, Doecke CJ, McManus ME, Miners JO, Birkett DJ. Tolbutamide and phenytoin hydroxylation by cDNA-expressed human liver cytochrome P4502C9. Eiochem Biophys Res Comm 1991: 175, 1112-1118.
40. Veronese ME, Doecke CJ, MacKenzie PI, McManus ME, Miners JO, Rees DLP, Gasser R, Meyer UA, Birkett DJ. Site-directed mutation studies of human liver cytochrome P-450 isoenzymes in the CYP2C family. Biochem J 1993: 289, 533-538.
41. Wang S-L, Huang J, Lai M-D, Tsai J-J. Detection of CYP2C9 polymorphism based on the polymerase chain reaction in Chinese. Pharmacogenetics 1995: 5, 37-42.
42. Yamano S, Tatsuno J, Gonzalez FJ. The CYP2A6 gene product catalyses coumarin 7-hydroxylation in human liver microsomes. Biochemistry 1990: 29, 1322-1329.
43. Yasumori T, Kawano S, Nagata K, Shimada M, Yamazoe Y, Kato R. Nucleotide sequence of a human liver cytochrome P-450 related to the rat male specific form. J Biochem 1987: 102, 1075-1082.