Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

Human Molecular Genetics

Volumn 12, Issue 3, 2003, Pages 205-216

  Duan, Jubao ^a   Wainwright, Mark S ^b   Comeron, Josep M ^c   Saitou, Naruya ^d   Sanders, Alan R ^a   Gelernter, Joel ^e   Gejman, Pablo V ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d NATIONAL INSTITUTE OF GENETICS   (Japan)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DOPAMINE 2 RECEPTOR; GUANINE; MESSENGER RNA; NUCLEOTIDE; THYMINE;

ALCOHOLISM; ANIMAL CELL; CONTROLLED STUDY; EUROPE; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHARMACOGENETICS; POPULATION GENETICS; POPULATION RESEARCH; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN SYNTHESIS; RECEPTOR UPREGULATION; REVIEW; RNA STABILITY; RNA TRANSLATION; SCHIZOPHRENIA; SILENT GENE; UNITED STATES;

DOPAMINE; GENE EXPRESSION REGULATION; HUMANS; MUTATION; NUCLEIC ACID CONFORMATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BIOSYNTHESIS; RECEPTORS, DOPAMINE; RNA STABILITY; RNA, MESSENGER; UP-REGULATION;

ANIMALIA; INSERTION SEQUENCES;

EID: 0037320652     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg055     Document Type: Review

References (59)

1. Venter, J.C., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Smith, H.O., Yandell, M., Evans, C.A., Holt, R.A. et al. (2001) The sequence of the human genome. Science, 291, 1304-1351.
2. Zwick, M.E., Cutler, D.J. and Chakravarti, A. (2000) Patterns of genetic variation in Mendelian and complex traits. A. Rev. Genom. Hum. Genet., 1, 387-407.
3. Akashi, H. (2001) Gene expression and molecular evolution. Curr. Opin. Genet. Devl., 11, 660-666.
4. Iida, K. and Akashi, H. (2000) A test of translational selection at 'silent' sites in the human genome: base composition comparisons in alternatively spliced genes. Gene, 261, 93-105.
5. Carlini, D.B., Chen, Y. and Stephan, W. (2001) The relationship between third-codon position nucleotide content, codon bias, mRNA secondary structure and gene expression in the drosophilid alcohol dehydrogenase genes Adh and Adhr. Genetics, 159, 623-633.
6. Chen, Y., Carlini, D.B., Baines, J.F., Parsch, J., Braverman, J.M., Tanda, S. and Stephan, W. (1999) RNA secondary structure and compensatory evolution. Genes Genet. Syst., 74, 271-286.
7. Parsch, J., Tanda, S. and Stephan, W. (1997) Site-directed mutations reveal long-range compensatory interactions in the Adh gene of Drosophila melanogaster. Proc. Natl Acad. Sci. USA, 94, 928-933.
8. Hurst, L.D. and Pal, C. (2001) Evidence for purifying selection acting on silent sites in BRCA1. Trends Genet., 17, 62-65.
9. Liu, H.X., Cartegni, L., Zhang, M.Q. and Krainer, A.R. (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet., 27, 55-58.
10. Jin, Y., Dietz, H.C., Montgomery, R.A., Bell, W.R., McIntosh, I., Coller, B. and Bray, P.F. (1996) Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J. Clin. Invest., 98, 1745-1754.
11. Bernardi, G. (2000) Isochores and the evolutionary genomics of vertebrates. Gene, 241, 3-17.
12. Akashi, H., Kliman, R.M. and Eyre-Walker, A. (1998) Mutation pressure, natural selection, and the evolution of base composition in Drosophila. Genetica, 102-103, 49-60.
13. Eyre-Walker, A. (1999) Evidence of selection on silent site base composition in mammals: potential implications for the evolution of isochores and junk DNA. Genetics, 152, 675-683.
14. Clay, O., Caccio, S., Zoubak, S., Mouchiroud, D. and Bernardi, G. (1996) Human coding and noncoding DNA: compositional correlations. Mol. Phylogenet. Evol., 5, 2-12.
15. Nekrutenko, A. and Li, W.H. (2000) Assessment of compositional heterogeneity within and between eukaryotic genomes. Genome Res., 10, 1986-1995.
16. Seeman, P. and Van Tol, H.H. (1994) Dopamine receptor pharmacology. Trends Pharmac. Sci., 15, 264-270.
17. Grandy, D.K., Marchionni, M.A., Makam, H., Stofko, R.E., Alfano, M., Frothingham, L., Fischer, J.B., Burke-Howie, K.J., Bunzow, J.R., Server, A.C. et al. (1989) Cloning of the cDNA and gene for a human D2 dopamine receptor. Proc. Natl. Acad. Sci. USA, 86, 9762-9766.
18. Sarkar, G., Kapelner, S., Grandy, D.K., Marchionni, M., Civelli, O., Sobell, J., Heston, L. and Sommer, S.S. (1991) Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor. Genomics, 11, 8-14.
19. 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. Commun., 196, 1369-1375.
20. Seeman, P., Ohara, K., Ulpian, C., Seeman, M.V., Jellinger, K., Van Tol, H.H. and Niznik, H.B. (1993) Schizophrenia: normal sequence in the dopamine D2 receptor region that couples to G-proteins. DNA polymorphisms in D2. Neuropsychopharmacology, 8, 137-142.
21. Gejman, P.V., Ram, A., Gelernter, J., Friedman, E., Cao, Q., Pickar, D., Blum, K., Noble, E.P., Kranzler, H.R., O'Malley, S. et al. (1994) No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis. JAMA, 271, 204-208.
22. 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 disorders. Am. J. Med. Genet., 67, 133-138.
23. Wong, A.H., Buckle, C.E. and Van Tol, H.H. (2000) Polymorphisms in dopamine receptors: what do they tell us? Eur. J. Pharmac., 410, 183-203.
24. Usiello, A., Baik, J.H., Rouge-Pont, F., Picetti, R., Dierich, A., LeMeur, M., Piazza, P.V. and Borrelli, E. (2000) Distinct functions of the two isoforms of dopamine D2 receptors. Nature, 408, 199-203.
25. Klein, C., Brin, M.F., Kramer, P., Sena-Esteves, M., de Leon, D., Doheny, D., Bressman, S., Fahn, S., Breakefield, X.O. and Ozelius, L.J. (1999) Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc. Natl Acad. Sci. USA, 96, 5173-5176.
26. Zhang, L.J., Lachowicz, J.E. and Sibley, D.R. (1994) The D2S and D2L dopamine receptor isoforms are differentially regulated in Chinese hamster ovary cells. Mol. Pharmac., 45, 878-889.
27. Arinami, T., Gao, M., Hamaguchi, H. and Toru, M. (1997) A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum. Mol. Genet., 6, 577-582.
28. Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W. et al. (2001) Initial sequencing and analysis of the human genome. Nature, 409, 860-921.
29. Parsch, J., Russell, J.A., Beerman, I., Hard, D.L. and Stephan, W. (2000) Deletion of a conserved regulatory element in the Drosophila Adh gene leads to increased alcohol dehydrogenase activity but also delays development. Genetics, 156, 219-227.
30. Zuker, M., Mathews, D.H. and Turner, D.H. (1999) Algorithms and Thermodynamics for RNA Secondary Structure Prediction: A Practical Guide. In Barciszewski, J. and Clark, B.F.C. (eds), RNA Biochemistry and Biotechnology. Kluwer Academic Publishers, New York, NY, pp. 11-43.
31. Gelernter, J. and Kranzler, H. (1999) D2 dopamine receptor gene (DRD2) allele and haplotype frequencies in alcohol dependent and control subjects: no association with phenotype or severity of phenotype. Neuropsychopharmacology, 20, 640-649.
32. Kim, C.H., Oh, Y. and Lee, T.H. (1997) Codon optimization for high-level expression of human erythropoietin (EPO) in mammalian cells. Gene, 199, 293-301.
33. Andre, S., Seed. B., Eberle, J., Schraut, W., Bultmann, A. and Haas, J. (1998) Increased immune response elicited by DNA vaccination with a synthetic gp120 sequence with optimized codon usage. J. Virol., 72, 1497-1503.
34. Hatfield, D. and Rice, M. (1986) Aminoacyl-tRNA(anticodon): codon adaptation in human and rabbit reticulocytes. Biochem. Int., 13, 835-842.
35. Akashi, H. (1994) Synonymous codon usage in Drosophila melanogaster: natural selection and translational accuracy. Genetics, 136, 927-935.
36. Alvarez-Valin, F., Jabbari, K. and Bernardi, G. (1998) Synonymous and nonsynonymous substitutions in mammalian genes: intragenic correlations. J. Mol. Evol., 46, 37-44.
37. Duret, L. and Mouchiroud, D. (2000) Determinants of substitution rates in mammalian genes: expression pattern affects selection intensity but not mutation rate. Mol. Biol. Evol., 17, 68-74.
38. Smith, N.G. and Hurst, L.D. (1999) The effect of tandem substitutions on the correlation between synonymous and nonsynonymous rates in rodents. Genetics, 153, 1395-1402.
39. Seffens, W. and Digby, D. (1999) mRNAs have greater negative folding free energies than shuffled or codon choice randomized sequences. Nucleic Acids Res., 27, 1578-1584.
40. Pritchard, J.K. (2001) Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet., 69, 124-137.
41. Bergman, N., Opyrchal, M., Bates, E.J. and Wilusz, J. (2002) Analysis of the products of mRNA decapping and 3′-to-5′ decay by denaturing gel electrophoresis. RNA, 8, 959-965.
42. Wilusz, C.J., Wormington, M. and Peltz, S.W. (2001) The cap-to-tail guide to mRNA turnover. Nat. Rev. Mol. Cell Biol., 2, 237-246.
43. Gingras, A.-C., Raught, B. and Sonenberg, N. (1999) eIF4 initiation factors: effectors of mRNA recruitment to ribosomes and regulators of translation. A. Rev. Biochem., 68, 913-963.
44. Guo, L., Allen, E.M. and Miller, W.A. (2001) Base-pairing between untranslated regions facilitates translation of uncapped, nonpolyadenylated viral RNA. Mol. Cell, 7, 1103-1109.
45. Parsch, J., Stephan, W. and Tanda, S. (1999) A highly conserved sequence in the 3′-untranslated region of the drosophila Adh gene plays a functional role in Adh expression. Genetics, 151, 667-674.
46. Tierney, MJ and Medcalf, R.L. (2001) Plasminogen activator inhibitor type 2 contains mRNA instability elements within exon 4 of the coding region. Sequence homology to coding region instability determinants in other mRNAs. J. Biol. Chem., 276, 13675-13684.
47. Gay, D.A., Yen, T.J., Lau, J.T. and Cleveland, D.W. (1987) Sequences that confer beta-tubulin autoregulation through modulated mRNA stability reside within exon 1 of a beta-tubulin mRNA. Cell, 50, 671-679.
48. Yeilding, N.M. and Lee, W.M. (1997) Coding elements in exons 2 and 3 target c-myc mRNA downregulation during myogenic differentiation. Mol. Cell. Biol., 17, 2698-2707.
49. Dibbens, J.A., Miller, D.L., Damert, A., Risau, W., Vadas, M.A. and Goodall, G.J. (1999) Hypoxic regulation of vascular endothelial growth factor mRNA stability requires the cooperation of multiple RNA elements. Mol. Biol. Cell, 10, 907-919.
50. Chiba, Y., Ishikawa, M., Kijima, F., Tyson, R.H., Kim, J., Yamamoto, A., Nambara, E., Leustek, T., Wallsgrove, R.M. and Naito, S. (1999) Evidence for autoregulation of cystathionine gamma-synthase mRNA stability in Arabidopsis. Science, 286, 1371-1374.
51. Kidd, K.K., Morar, B., Castiglione, C.M., Zhao, H., Pakstis, A.J., Speed, W.C., Bonne-Tamir, B., Lu, R.B., Goldman, D., Lee, C. et al. (1998) A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum. Genet., 103, 211-227.
52. Comings, D.E., Muhleman, D., Ahn, C., Gysin, R. and Flanagan, S.D. (1994) The dopamine D2 receptor gene: a genetic risk factor in substance abuse. Drug Alcohol Depend., 34, 175-180.
53. Blum, K., Noble, E.P., Sheridan, P.J., Montgomery, A., Ritchie, T., Jagadeeswaran, P., Nogami, H., Briggs, A.H. and Cohn, J.B. (1990) Allelic association of human dopamine D2 receptor gene in alcoholism. JAMA, 263, 2055-2060.
54. Gelernter, J., Goldman, D. and Risch, N. (1993) The A1 allele at the D2 dopamine receptor gene and alcoholism. A reappraisal. JAMA, 269, 1673-1677.
55. Drysdale, C.M., McGraw, D.W., Stack, C.B., Stephens, J.C., Judson, R.S., Nandabalan, K., Arnold, K., Ruano, G. and Liggett, S.B. (2000) Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl Acad. Sci. USA, 97, 10483-10488.
56. Innan, H. and Stephan, W. (2001) Selection intensity against deleterious mutations in RNA secondary structures and rate of compensatory nucleotide substitutions. Genetics, 159, 389-399.
57. Cravchik, A., Sibley, D.R. and Gejman, P.V. (1996) Functional analysis of the human D2 dopamine receptor missense variants. J. Biol. Chem., 271, 26013-26017.
58. Cravchik, A., Sibley, D.R. and Gejman, P.V. (1999) Analysis of neuroleptic binding affinities and potencies for the different human D2 dopamine receptor missense variants. Pharmacogenetics, 9, 17-23.
59. Long, J.C., Williams, R.C. and Urbanek, M. (1995) An E-M algorithm and testing strategy for multiple-locus haplotypes. Am. J. Hum. Genet., 56, 799-810.