Distribution of a novel mutation in the first exon of the human dopamine D4 receptor gene in psychotic patients

@article{Catalano1993DistributionOA,
  title={Distribution of a novel mutation in the first exon of the human dopamine D4 receptor gene in psychotic patients},
  author={Marco Catalano and Maria Nobile and Emanuela Novelli and Markus M. N{\"o}then and Enrico Smeraldi},
  journal={Biological Psychiatry},
  year={1993},
  volume={34},
  pages={459-464}
}
Disturbances in dopaminergic transmission have been implicated in the etiology of psychotic disorders. Interindividual differences in deoxyribonucleic acid (DNA) sequences coding for dopamine receptor proteins might contribute to the genetic background of these diseases. We have identified a variation in exon 1 of the dopamine D4 receptor (DRD4) gene, which is characterized by a polymorphic 12 base pair (bp) repeat. This repeat codes for a sequence of four amino acids in the extracellular N… Expand
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The present data do not support an association between schizophrenia and any specific allele of the 12-bp repeat polymorphism of dopamine D4 receptor gene (DRD4), and significance of familial/sporadic division of schizophrenia cannot be supported regarding thisrepeat polymorphism. Expand
Association analysis of exon III and exon I polymorphisms of the dopamine D4 receptor locus in Mexican psychotic patients
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A positive association between 48 bp-VNTR polymorphisms of the dopamine D4 receptor and psychotic symptoms supports a role of this molecule as a genetic risk factor in psychotic disorders. Expand
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Remarkably, the deleted region of the DRD4 gene contains consensus sequences of binding sites for several known transcription factors, suggesting that the different alleles may affect the transcriptional regulation of the gene. Expand
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Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4).
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This work studies the identification of a polymorphic tandem duplication of 120 bp located 1.2 kb upstream of the initiation codon of the dopamine D4 receptor, suggesting that different alleles may differ in their transcriptional activity. Expand
Systematic screening for mutations in the coding region of the human serotonin transporter (5-HTT) gene using PCR and DGGE.
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Structural modifications of the 5-HTT gene do not seem to play either a major or minor role in the genetic predisposition to mood disorder or obsessive-compulsive disorder. Expand
Investigation of dopamine receptor (DRD4) and dopamine transporter (DAT) polymorphisms for genetic linkage or association to panic disorder.
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The results reported here provide little support for the role of these polymorphisms in panic disorder, and a variety of simulations for dominant and recessive models of inheritance were used. Expand
DRD4 dopamine receptor genotype and CSF monoamine metabolites in Finnish alcoholics and controls.
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This study of theDRD4 dopamine receptor in alcoholics is the first to be conducted in a clinically and ethnically homogeneous population and to relate the DRD4 genotype to CSF monoamine concentrations, and indicates that there is no association of the DRd4 receptor with alcoholism. Expand
Evidence of positive selection acting at the human dopamine receptor D4 gene locus
  • Y. Ding, H. Chi, +9 authors R. Moyzis
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 2001
TLDR
It is shown by DNA resequencing/haplotyping of 600 DRD4 alleles, representing a worldwide population sample, that the origin of 2R–6R alleles can be explained by simple one-step recombination/mutation events and the 7R allele originated as a rare mutational event that nevertheless increased to high frequency in human populations by positive selection. Expand
The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus
TLDR
A global survey of the DRD4 repeat polymorphism indicates that the polymorphism is ancient and arose before the global dispersion of modern humans and emphasizes the importance of population considerations in the design and interpretation of any association studies carried out with this polymorphism. Expand
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