A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia

Human Molecular Genetics

Volumn 6, Issue 4, 1997, Pages 577-582

  Arinami, Tadao ^a   Gao, Ming ^a   Hamaguchi, Hideo ^a   Toru, Michio ^b  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE 2 RECEPTOR; LUCIFERASE;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; REPORTER GENE; SCHIZOPHRENIA; TRANSCRIPTION REGULATION;

ADULT; AGED; ALLELES; BASE SEQUENCE; CELLS, CULTURED; CLONING, MOLECULAR; FEMALE; GENE EXPRESSION; GENES, REPORTER; GENOTYPE; HOMOZYGOTE; HUMANS; JAPAN; LUCIFERASES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RECEPTORS, DOPAMINE D2; SCHIZOPHRENIA; TRANSFECTION;

EID: 0030933979     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.577     Document Type: Article

References (33)

1. Andén, N.-E., Butcher, S.G., Corrodi, H., Fuxe, K. and Ungerstedt, U. (1970) Receptor activity and turnover of dopamine and noradrenaline after neuroleptics. Eur. J. Pharmacol., 11, 303-314.
2. Seeman, P., Lee, T., Chau-Wong, M. and Wong, K. (1976) Antipsychotic drug doses and neuroleptic/dopamine receptors. Nature, 261, 717-719.
3. Creese, I., Burt, D. R. and Snyder, S. H. (1976) Dopamine receptor binding predicts clinical and pharmacological potencies of antischizophrenic drugs. Science, 192, 481-483.
4. Lieberman, J. A., Kane, J. M. and Alvir, J. (1987) Provocative tests with psychostimulant drugs in schizophrenia. Psychopharmacology, 91, 415-433.
5. Seeman, P. (1992) Dopamine receptor sequences. Therapeutic levels of neuroleptics occupy D2 receptors, clozapine occupies D4. Neuropsychopharmacology, 7, 261-284.
6. Knable, M. B., Hyde, T. M., Herman, M. M., Carter, J. M., Bigelow, L. and Kleinman, J. E. (1994) Quantitative autoradiography of dopamine-D1 receptors, D2 receptors, and dopamine uptake sites in postmortem striatal specimens from schizophrenic patients. Biol. Psychiatry, 36, 827-835.
7. Seeman, P., Guan, H. C. and Van Tol, H. H. (1993) Dopamine D4 receptors elevated in schizophrenia. Nature, 365, 441-445.
8. Reynolds, G. P. and Mason, S. L. (1995) Absence of detectable striatal dopamine D4 receptors in drug-treated schizophrenia. Eur. J. Pharmacol., 281, R5-R6.
9. Itokawa, M., Arinami, T., Futamura, N., Hamaguchi, H. and Toru, M. (1993) A structural polymorphism of human dopamine D2 receptor, D2(Ser311→Cys). Biochem. Biophys. Res. Comm., 196, 1369-1375.
10. 2 receptor gene in alcoholism or schizophrenia. J. Am. Med. Assoc., 271, 204-208.
11. Arinami, T., Itokawa, M., Enguchi, H., Tagaya, H., Yano, S., Shimizu, H., Hamaguchi, H. and Toru, M. (1994) Association of dopamine D2 receptor molecular variant with schizophrenia. Lancet, 343, 703-704.
12. Arinami, T., Itokawa, M., Aoki, J., Shibuya, H., Ookubo, Y., Iwawaki, A., Ota, K., Shimizu, H., Hamaguchi, H. and Toru, M. (1996) Further association study on dopamine D2 receptor variant S311C in schizophrenia and affective disorder. Am. J. Med. Genet., 67, 133-138.
13. Higuchi, S., Muramatsu, T., Murayama, M. and Hayashida, M. (1994) Association of structural polymorphism of the dopamine D2 receptor gene and alcoholism. Biochem. Biophys. Res. Commun., 204, 1199-1205.
14. Asherson, P., Williams, N., Roberts, E., McGuffin, M. and Owen, M. (1994) DRD2 Der311/Cys311 polymorphism in schizophrenia. Lancet, 343, 1045.
15. Laurent, C., Bodeau-Péan, S., Campion, D., d'Amato, T., Jay, M., Dollfus, S., Thibault, F., Petit, M., Samolyk, D., Martinez, M. and Mallet, J. (1994) No major role for the dopamine D2 receptor Ser→Cys311 mutation in schizophrenia. Psychiatric Genet., 4, 229-230.
16. Nanko, S., Hattorin, M., Dai, X. Y., Fukuda, R. and Kazamatsuri, H. (1994) DRD2 Der311/Cys311 polymorphism in schizophrenia. Lancet, 343, 1044.
17. Nöthen, M. M., Wildenauer, D., Cichon, S., Albus, M., Maier, W., Minges, J., Lichtermann, D., Bondy, B., Riestschel, M., Körner, J., Fimmers, R. and Propping, P. (1994) Dopamine D2 receptor molecular variant and schizophrenia. Lancet, 343, 1301-1302.
18. Shaikh, S., Collier, D., Arranz, M., Ball, D., Gill, M, and Kerwin, R. (1994) DRD2 Der311/Cys311 polymorphism in schizophrenia. Lancet, 343, 1045-1046.
19. Sobell, J., Sigurdson, D. C., Heston, L. and Sommer, S. (1994) S311C D2DR variant: no association with schizohrenia. Lancet, 344, 621-622.
20. Finckh, U., von Widdern, O., Giraldo-Velasquez., M., Podschus, J., Dufeu, P., Sander, T., Harms, H., Schmidt, L. G., Rommelspacher, H. and Rolfs, A. (1996) No association of the structural dopamine D2 receptor (DRD2) variant 311Cys with alcoholism. Alcohol Clin. Exp. Res., 20, 528-532.
21. Eubanks, J. H., Djabali, M., Selleri, L., Grandy, D. K., Civelli, O., McElligott, D. L. and Evans, G. A. (1992) Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23. Genomics. 14, 1010-1018.
22. Gandelman, K. Y., Harmon, S., Todd, R. D. and O'Malley, K. L. (1991) Analysis of the structure and expression of the human dopamine D2A receptor gene. J. Neurochem., 56, 1024-1029.
23. Terwilliger, J. D. and Ott, J. (1994) Handbook of Human Genetic Linkage, The Johns Hopkins University Press, Baltimore, MD, USA.
24. Monsma, F. J., Barton, A. C. and Sibley, D. R. (1990) Expression of functional D2 dopamine receptors following differentiation of Y-79 human retinoblastoma cells. J. Neurochem., 54, 1200-1207.
25. Farooqui, S. M. (1994) Induction of adenylate cyclase sensitive dopamine D2-receptors in retinoic acid induced differentiated human neuroblatoma SHSY-5Y cells. Life Sci., 55, 1887-1893.
26. Tsokos, M., Kyritsis, A. P., Chader, G. J. and Triche, T. J. (1986) Differentiation of human retinoblastoma in vitro into cell types with characteristics observed in embryonal or mature retina. Am. J. Pathol., 123, 542-552.
27. Filtz, T. M., Artymyshyn, R. P., Guan, W. and Molinoff, P. B. (1993) Paradoxical regulation of dopamine receptors in transfected 293 cells. Mol. Pharmacol., 44, 371-379.
28. Valdenaire, O., Vernier, P., Maus, M., Dumas Milne Edwards, J.-B. and Mallet, J. (1994) Transcription of the rat dopamine-D2-receptor gene from two promoters. Eur. J. Biochem., 220, 577-584.
29. Beischlag, T. V., Marchese, A., Meador-Woodruff, J. H., Damask, S. P., O'Dowd, B. F.,Tyndale, R. F., van Tol, H. H. M., Seeman, P. and Niznik, H. B. (1995) The human dopamine D5 receptor gene: cloning and characterization of the 5′-flanking and promoter region. Biochemistry, 34, 5960-5970.
30. Wood, I. C., Roopra, A., Harrington, C. and Buckley, N. J. (1995) Structure of the m4 cholinergic muscarinic receptor gene and its promoter. J. Biol. Chem., 270, 30933-30940.
31. Moises, H. W., Gelernter, J., Giuffra, L. A., Zarcone, V., Wetterberg, L., Civelli, O., Kidd, K. K. and Cavalli-Sforza, L. L. (1991) No linkage between D2 dopamine receptor gene region and schizophrenia. Arch. Gen. Psychiatry, 48, 643-647.
32. Su, Y., Burke, J., O'Neill, F. A., Mruphy, B., Nie, L., Kipps, B., Bray, J., Shinkwin, R., Nuallain, M. N., MacLean, C. J., Walsh, D., Diehl, S. R. and Kendler, K. S. (1993) Exclusion of linkage between schizophrenia and the D2 dopamine receptor gene region of chromosome 11q in 112 Irish multiplex families. Arch. Gen. Psychiatry, 50, 205-211.
33. Selbie, L. A., Hayes, G. and Shine, J. (1989) The major dopamine D2 receptor: molecular analysis of the human D2A subtype. DNA, 8, 683-689.