Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes

Gene

Volumn 226, Issue 2, 1999, Pages 327-338

  Lundqvist, Eva ^a   Johansson, Inger ^a   Ingelman Sundberg, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Cytochrome P450; Debrisoquine; Drug metabolism; Gene amplification; Sparteine; Ultrarapid metabolism

Indexed keywords

CYTOCHROME P450; DEBRISOQUINE; DEBRISOQUINE 4 HYDROXYLASE; SPARTEINE;

ALLELE; ARTICLE; CONTROLLED STUDY; DRUG METABOLISM; GENE AMPLIFICATION; GENE DUPLICATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING;

ALLELES; BASE SEQUENCE; CLONING, MOLECULAR; CYTOCHROME P-450 CYP2D6; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA PRIMERS; GENE DUPLICATION; GENE REARRANGEMENT; HAPLOTYPES; HUMANS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033590590     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(98)00567-8     Document Type: Article

References (31)

1. Agundez J.A., Ledesma M.C., Ladero J.M., Benitez J. Prevalence of CYP2D6 gene duplication and its repercussion on the oxidative phenotype in a white population. Clin. Pharmacol. Ther. 57:1995;265-269.
2. Aklillu E., Persson I., Bertilsson L., Johansson I., Rodrigues F., Ingelman-Sundberg M. Frequent distribution of ultrarapid metabolizers of debrisoquine in an Ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J. Pharmacol. Exp. Ther. 278:1996;441-446.
3. Bertilsson L., Dahl M.L., Sjöqvist F., Åberg-Wistedt A., Humble M., Johansson I., Lundqvist E., Ingelman-Sundberg M. Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet. 341:1993;63.
4. Charlesworth B. Genetic recombination. Patterns in the genome. Curr. Biol. 4:1994;182-184.
5. Cheng S., Fockler C., Barnes W.M., Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc. Natl. Acad. Sci. USA. 91:1994;5695-9596.
6. Clark A.G. Invasion and maintenance of a gene duplication. Proc. Natl. Acad. Sci. USA. 91:1994;2950-2954.
7. Daly A.K., Brockmöller J., Broly F., Eichelbaum M., Evans W.E., Gonzalez F.J., Huang J.D., Idle J.R., Ingelman-Sundberg M., Ishizaki T., Jacqz-Aigrain E., Meyer U.A., Nebert D.W., Steen V.M., Wolf C.R., Zanger U.M. Nomenclature for human CYP2D6 alleles. Pharmacogenetics. 6:1996;193-201.
8. Deininger P.L., Slagel V.K. Recently amplified Alu family members share a common parental Alu sequence. Mol. Cell. Biol. 8:1988;4566-4569.
9. Fernandez-Salguero P., Hoffman S.M., Cholerton S., Mohrenweiser H., Raunio H., Rautio A., Pelkonen O., Huang J.D., Evans W.E., Idle J.R.et al. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Am. J. Hum. Genet. 57:1995;651-660.
10. Gaedigk A., Blum M., Gaedigk R., Eichelbaum M., Meyer U.A. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am. J. Hum. Genet. 48:1991;943-950.
11. Gonzalez F.J., Nebert D.W. Evolution of the P450 gene superfamily: animal-plant 'warfare', molecular drive and human genetic differences in drug oxidation. Trends Genet. 6:1990;182-186.
12. Gough A.C., Smith C.A., Howell S.M., Wolf C.R., Bryant S.P., Spurr N.K. Localization of the CYP2D gene locus to human chromosome 22q13.1 by polymerase chain reaction, in situ hybridization, and linkage analysis. Genomics. 15:1993;430-432.
13. Heim M.H., Meyer U.A. Evolution of a highly polymorphic human cytochrome P450 gene cluster: CYP2D6. Genomics. 14:1992;49-58.
14. Henthorn P.S., Mager D.L., Huisman T.H., Smithies O. A gene deletion ending within a complex array of repeated sequences 3′ to the human beta-globin gene cluster. Proc. Natl. Acad. Sci. USA. 83:1986;5194-5198.
15. Hunt J.D., Valentine M., Tereba A. Excision of N-myc from chromosome 2 in human neuroblastoma cells containing amplified N-myc sequences. Mol. Cell. Biol. 10:1990;823-829.
16. Ingelman-Sundberg, M., Johansson, I., 1995. The molecular genetics of the human drug metabolizing cytochrome P450s. In: Pacifici, G.M., Fracchis, G.N. (Eds.), Advances in Drug Metabolism in Man. Office for Official Publications of the European Communities, Luxembourg, pp. 543-586.
17. Johansson I., Lundqvist E., Bertilsson L., Dahl M.L., Sjöqvist F., Ingelman-Sundberg M. Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine. Proc. Natl. Acad. Sci. USA. 90:1993;11825-11829.
18. Johansson I., Lundqvist E., Dahl M.L., Ingelman-Sundberg M. PCR-based genotyping for duplicated and deleted CYP2D6 genes. Pharmacogenetics. 6:1996;351-355.
19. Johansson I., Oscarson M., Yue Q.Y., Bertilsson L., Sjöqvist F., Ingelman-Sundberg M. Genetic analysis of the Chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation. Mol. Pharmacol. 46:1994;452-459.
20. Kimmel M., Axelrod D.E., Wahl G.M. A branching process model of gene amplification following chromosome breakage. Mutat. Res. 276:1992;225-239.
21. Kimura S., Umeno M., Skoda R.C., Meyer U.A., Gonzalez F.J. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am. J. Hum. Genet. 45:1989;889-904.
22. Lovlie R., Daly A.K., Molven A., Idle J.R., Steen V.M. Ultrarapid metabolisers of debrisoquine: characterization of PCR-based detection of alleles with duplication of the CYP2D6 gene. FEBS Lett. 392:1996;30-34.
23. Maruyama I.N., Miller D.M., Brenner S. Myosin heavy chain gene amplification as a suppressor mutation in Caenorhabditis elegans. Mol. Gen. Genet. 219:1989;113-118.
24. McLellan R.A., Oscarson M., Seidegård J., Evans D.A., Ingelman-Sundberg M. Frequent occurrence of CYP2D6 gene duplication in Saudi Arabians. Pharmacogenetics. 7:1997;187-191.
25. Nelson D.R., Koymans L., Kamataki T., Stegeman J.J., Feyereisen R., Waxman D.J., Waterman M.R., Gotoh O., Coon M.J., Estabrook R.W., Gunsalus I.C., Nebert D.W. P450 superfamily: update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics. 6:1996;1-42.
26. Schimke R.T. Gene amplification; what are we learning? Mutat. Res. 276:1992;145-149.
27. Smith K.A., Gorman P.A., Stark M.B., Groves R.P., Stark G.R. Distinctive chromosomal structures are formed very early in the amplification of CAD genes in Syrian hamster cells. Cell. 63:1990;1219-1227.
28. Stark G.R., Debatisse M., Giulotto E., Wahl G.M. Recent progress in understanding mechanisms of mammalian DNA amplification. Cell. 57:1989;901-908.
29. Steen V.M., Andreassen O.A., Daly A.K., Tefre T., Borresen A.L., Idle J.R., Gulbrandsen A.K. Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology. Pharmacogenetics. 5:1995;215-223.
30. Walsh J.B. Persistence of tandem arrays:implications for satellite and simple-sequence DNAs. Genetics. 115:1987;553-567.
31. Windle B.E., Wahl G.M. Molecular dissection of mammalian gene amplification: new mechanistic insights revealed by analyses of very early events. Mutat. Res. 276:1992;199-224.