Genetic polymorphism of human CYP2E1: Characterization of two variant alleles

Molecular Pharmacology

Volumn 51, Issue 3, 1997, Pages 370-376

  Hu, Yin ^a   Oscarson, Mikael ^a   Johansson, Inger ^a   Yue, Qun Ying ^a   Dahl, Marja Liisa ^a   Tabone, Marco ^c   Arincò, Sarino ^c   Albano, Emanuele ^b   Ingelman Sundberg, Magnus ^a,d  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME CYP2E1; CYTOCHROME P; UNCLASSIFIED DRUG;

ALCOHOL LIVER CIRRHOSIS; ALLELISM; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROXYLATION; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RACE DIFFERENCE;

ALLELES; ANIMALS; BASE SEQUENCE; CHLORZOXAZONE; COS CELLS; CYTOCHROME P-450 CYP2E1; HUMANS; MUTATION; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0030889322     PISSN: 0026895X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. Warner M., and J.-Å. Gustafsson. Effect of ethanol on cytochrome P450 in the rat brain. Proc. Natl. Acad. Sci. USA. 91:1019-1023 (1994).
2. Tindberg, N., H. A. Baldwin, A. J. Cross, and M. Ingelman-Sundberg. Induction of cytochrome P450 2E1 expression in rat and gerbil astrocytes by and inflammatory factors and ischemic injury. Mol. Pharmacol. 50: 1065-1072 (1996).
3. Ronis, M. J. J., K. O. Lindros, and M. Ingelman-Sundberg. The cytochrome P4502E subfamily, in Cytochromes P450, Pharmacological and Toxicological Aspects (I. loannides, ed.). CRC Press, Boca Raton, FL, 211-239.
4. Terelius, Y., K. O. Lindros, E. Albano, and M. Ingelman-Sundberg. Isozyme-specificity of cytochrome P450-mediated hepatotoxicity, in Frontiers Biotransformation (H. Rein and K. Ruckpaul, eds.). Vol. 8. Akademie Verlag, Berlin, 186-231 (1993).
5. Ingelman-Sundberg, M., I. Johansson, H. Yin, Y. Terelius, E. Eliasson, P. Clot, and E. Albano. Ethanol-inducible cytochrome P4502E1: genetic polymorphism, regulation, and possible role in the etiology of alcohol-induced liver disease. Alcohol 10:447-452 (1993).
6. Parkinson, A. An overview of current cytochrome P450 technology for assessing the safety and efficacy of new materials. Toxicol. Pathol. 24: 45-57 (1996).
7. Ingelman-Sundberg, M., and I. Johansson. The molecular genetics of the human drug metabolizing cytochrome P450s, in Advances in Drug Metabolism in Man (G. Pacifici and G. N. Fracchia, eds.). Office for Official Publications of the European Communities, Luxembourg, 543-586 (1995).
8. Ekström, G., C. von Bahr, and M. Ingelman-Sundberg. Human liver microsomal cytochrome P-450 IIE1. Immunological evaluation of its contribution to microsomal ethanol oxidation, carbon tetrachloride reduction and NADPH oxidase activity. Biochem. Pharmacol. 38:689-693 (1989).
9. Wrighton, S. A., P. E. Thomas, D. T. Molowa, M. Haniu, J. E. Shively, S. L. Maines, P. B. Watkins, G. Parker, G. Mendez-Picon, W. Levin, and P. S. Guzelian. Characterisation of ethanol-inducible human liver N-nitrosodimethylamine demethylase. Biochemistry 25:6732-6735 (1986).
10. Rannug, A., A. K. Alexandrie, I. Persson, and M. Ingelman-Sundberg. Genetic polymorphism of cytochromes P450 1A1, 2D6 and 2E1: regulation and toxicological significance. J. Occup. Environ. Med. 37:25-36 (1995).
11. Nedelcheva, V., I. Persson, I. Johansson, and M. Ingelman-Sundberg. Genetic polymorphism of human cytochrome P450 2E1. Methods Enzymol. 272:218-225 (1996).
12. Iwahashi, K. K., H. Nakamura, Y. Suwaki, Y. Matsuo, and Y. Ichikawa. Relationship between genetic polymorphism of CYP2E1 and ALDH2, and possible susceptibility to alcoholism. Alcohol Alcohol. 29:639-642 (1994).
13. Yu, M. W., A. Gladek-Yarborough, S. Chiamprasert, R. M. Santella, Y. F. Liaw, and C. J. Chen. Cytochrome P450 2E1, and glutathione S-transferase M1 polymorphisms and susceptibility to hepatocellular carcinoma. Gastroenterology 109:1266-1273 (1995).
14. Kato, S., M. Onda, N. Matsukura, A. Tokunaga, T. Tajiri, D. Y. Kim, H. Tsuruta, N. Matsuda, K. Yamashita, and P. G. Shields. Cytochrome P4502E1 (CYP2E1) genetic polymorphism in a case-control study of gastric cancer and liver disease. Pharmacogenetics 5:3141-3144 (1995).
15. Lucas, D., C. Menez, C. Girre, F. Berthou, P. Bodenez, I. Joannet, E. Hispard, L.-G. Bardou, and J.-F. Menez. Cytochrome P450 2E1 genotype and chlorzoxazone metabolism in healthy and alcoholic Caucasian subjects. Pharmacogenetics 5:298-304 (1995).
16. Kim, R. B., and D. O'Shea. Interindividual variability of chlorzoxazone 6-hydroxylation in men and women and its relationship to CYP2E1 genetic polymorphisms. Clin. Pharmacol. Ther. 57:645-655 (1995).
17. Johansson, I., E. Lundqvist, L. Bertilsson, M. L. Dahl, F. Sjöqvist, and M. Ingelman-Sundberg. 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 90:11825-11829 (1993).
18. Johansson, I., M. Oscarson, Q. Y. Yue, L. Bertilsson, F. Sjöqvist, and M. Ingelman-Sundberg. 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: 452-459 (1994).
19. Clot, P., E. Albano, E. Eliasson, M. Tabone, S. Arincò, Y. Israel, C. Moncada, and M. Ingelman-Sundberg. Cytochrome P4502E1 (CYP2E1) hydroxyethyl radical adducts as the major antigenic determinants for autoantibody formation among alcoholics. Gastroenterology 111:206-216 (1996).
20. Gustafson, S., J. A. Proper, E. J. W. Bowie, and S. S. Sommer. Parameters affecting the yield of DNA from human blood. Anal. Biochem. 165:294-299 (1987)
21. Persson, I., I. Johansson, H. Bergling, M.-L. Dahl, J. Seidegård, R. Rylander, A. Rannug, J. Högberg, and M. Ingelman-Sundberg. Genetic polymorphism of cytochrome P4502E1 in a Swedish population. Relationship to incidence of lung cancer. FEBS Lett. 319:207-211 (1993).
22. Andersson, S., D. N. Davis, H. Dahlback, H. Jörnvall, and D. W. Russell. Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J. Biol. Chem. 264:8222-8229 (1989).
23. Hu Y., V. Mishin, I. Johansson, C. von Bahr, A. Cross, M. J. Ronis, T. M. Badger, M. Ingelman-Sundberg. Chlormethiazole as an efficient inhibitor of cytochrome P450 2E1 expression in rat liver. J. Pharmacol. Exp. Ther. 269:1286-1291 (1994).
24. Johansson, I., G. Ekström, B. Scholte, D. Puzycki, H. Jörnvall, and M. Ingelman-Sundberg. Ethanol-, fasting-, and acetone-inducible cytochromes P-450 in rat liver: regulation and characteristics of enzymes belonging to the IIB and IIE gene subfamilies. Biochemistry 27:1925-1934 (1988).
25. Ingelman-Sundberg M., and H. Glaumann. Incorporation of purified components of the rabbit liver microsomal hydroxylase system into phospholipid vesicles. Biochim. Biophys. Acta 599:417-35 (1980).
26. Hayashi, S., J. Watanabe, and K. J. Kawajiri. Genetic polymorphisms in the 5′-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. J. Biochem. 110:559-564 (1991).
27. Umeno, M., O. W. McBride, C. S. Yang, H. V. Gelboin, and F. J. Gonzalez. Human ethanol-inducible P450IIE1: complete gene sequence, promoter characterization, chromosome mapping, and cDNA directed expression. Biochemistry 27:9006-9013 (1988).
28. Vidal-Puig, A., and D. E. Moller. Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods. Biotechniques 17:490-492 (1994).
29. 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. 267:83-90 (1992).
30. Hasemann, C. A., R. G. Kurumbail, S. S. Boddupalli, J. A. Peterson, J. Deisenhofer. Structure and function of cytochromes P450: a comparative analysis of three crystal structures. Structure 3:41-62 (1995).
31. Song, B. J., H. V. Gelboin, S. S. Park, C. S. Yang, and F. J. Gonzalez. Complementary DNA and protein sequences of ethanol-inducible rat and human cytochrome P-450s. Transcriptional and post-transcriptional regulation of the rat. J. Biol. Chem. 261:16689-16697 (1996).
32. Komori, M., O. Kikuchi, T. Sakuma, J. Funaki, M. Kitada, T. Kamataki. Molecular cloning of monkey liver cytochrome P-450 cDNAs: similarity of the primary sequences to human cytochromes P-450. Biochim. Biophys. Acta 1171:141-146 (1992).
33. Freeman, J. E., D. Stirling, A. L. Russell, C. R. Wolf. cDNA sequence, deduced amino acid sequence, predicted gene structure and chemical regulation of mouse cyp2e1. Biochem J. 281:689-695 (1992).
34. Khani, S. C., T. D. Porter, S. Fujita, and M. J. Coon. Organization and differential expression of two highly similar genes in the rabbit alcohol-inducible cytochrome P-450 subfamily. J. Biol. Chem. 263:7170-7175 (1988).
35. Sakuma, T., M. Takai, T. Yokoi, and T. Kamataki. Molecular cloning and sequence analysis of hamster CYP2E1. Biochim. Biophys. Acta 1217:229-231(1994).
36. Badger, T. M., J. Huang, M. Ronis, C. K. Lumpkin. Induction of cytochrome P450 2E1 during chronic ethanol exposure occurs via transcription of the CYP2E1 gene when blood alcohol concentrations are high. Biochem. Biophys. Res. Commun. 190:780-785 (1993).
37. Eliasson, E., I. Johansson., and M. Ingelman-Sundberg. Substrate-, hormone-, and cAMP regulated cytochrome P450 degradation. Proc. Natl. Acad. Sci. USA 87:3225-3229 (1990).
38. Roberts, B. J., B. J. Song, Y. Soh, S. S. Park, and S. E. Shoaf. Ethanol induces CYP2E1 by protein stabilization. Role of ubiquitin conjugation in the rapid degradation of CYP2E1. J. Biol. Chem. 270:29632-29635 (1995).
39. Lee, S. S. T., J. T. M. Buters, T. Pineau, P. Fernandez-Salguero, and F. J. Gonzalez. Role of cyp2e1 in the hepatotoxicity of acetaminophen. J. Biol. Chem. 271:12063-12067 (1996).
40. Daly, A. K., J. Brockmöller, F. Broly, M. Eichelbaum, W. E. Evans, F. J. Gonzalez, J.-D. Huang, J. R. Idle, M. Ingelman-Sundberg, T. Ishizaki, E. Jacqz-Aigrain, U. A. Meyer, D. W. Nebert, V. M. Steen, C. R. Wolf, and U. M. Zanger. Nomenclature for human CYP2D6 alleles. Pharmacogenetics, in press.