Dopamine D3 receptor gene: Organization, transcript variants, and polymorphism associated with schizophrenia

N. Griffon, M. A. Crocq, C. Pilon, M. P. Martres, A. Mayerova, G. Uyanik, E. Burgert, F. Duval, J. P. Macher, F. Javoy-Agid, C. A. Tamminga, J. C. Schwartz, P. Sokoloff

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76 Scopus citations


DNA fragments from a genomic library were used to establish the partial structure of the human dopamine D3 receptor gene (DRD3). Its coding sequence contains 6 exons and stretches over 40,000 base pairs. The complete DRD3 transcript and three shorter variants, in which the second and/or third exon are deleted, were detected in similar proportions in brains from four controls and three psychiatric patients. The Msp I polymorphism was localized in the fifth intron of the gene, 40,000 base pairs downstream the Bal I polymorphism and a PCR-based method was developed for genotyping this polymorphism. The distributions of the Msp I and Bal I genotypes were not independent in 297 individuals (X2 = 10.5, df = 4, P = 0.03), but only a weak association was found between allele 1 of the Bal I polymorphism and allele 2 of the Msp I polymorphism (X2 = 3.99, df = 1, P - 0.04). The previously reported association between homozygosity at both alleles of the Bal I polymorphism and schizophrenia was presently maintained in an extended sample, comprising 119 DSM-III-R chronic schizophrenics and 85 controls (X2 = 5.3, df = 1, P = 0.02) and found more important in males than in females. The presence of the Bal I allele 2 is associated with an early age at onset, particularly in males (df = 35, t value = 2.6, P = 0.014). In the same sample, allelic frequencies, genotype counts, and proportion of homozygotes for the Msp I polymorphism did not differ between schizophrenics and controls (X2 = 0.06, df = 1, P = 0.80, X2 = 0.22, df = 1, P = 0.90 and X2 = 0.16, df = 1, P = 0.69, respectively). The large distance of the Msp I polymorphism from the Bal I polymorphism and its localization in the 3′ part of the gene may explain the discrepant results obtained with the two polymorphisms.

Original languageEnglish (US)
Pages (from-to)63-70
Number of pages8
JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
Issue number1
StatePublished - Feb 16 1996


  • Alternative splicing
  • Bal I polymorphism
  • Msp I polymorphism
  • Polymerase chain reaction
  • Splicing junction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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