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}
}
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129 Citations
Highly Influential Citations
7
Background Citations
31
Methods Citations
5
Results Citations
2

129 Citations

Twelve-Nucleotide Repeat Polymorphism of D4 Dopamine Receptor Gene in Chinese Familial Schizophrenic Patients
Association analysis of exon III and exon I polymorphisms of the dopamine D4 receptor locus in Mexican psychotic patients
The polymorphic nature of the human dopamine D4 receptor gene: A comparative analysis of known variants and a novel 27 bp deletion in the promoter region
TLDR
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.
Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: no association with schizophrenia.
TLDR
None of the 147 Caucasians (113 controls; 34 schizophrenics) revealed this variant, termed D4GLYCINE194, which occurs one amino acid away from a serine amino acid which is critical for the attachment of dopamine.
Systematic screening for mutations in the coding region of the human serotonin transporter (5-HTT) gene using PCR and DGGE.
TLDR
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.
Evidence of positive selection acting at the human dopamine receptor D4 gene locus
  • Y. DingH. Chi R. Moyzis
  • Biology
    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.
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.
Genetic structure of the dopamine receptor D4 gene (DRD4) and lack of association with schizophrenia in Japanese patients.
A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia.
TLDR
Although the association is weak and should be considered tentative until other studies replicate it, this polymorphism provides a tool with the potential to examine whether DRD4 is related to susceptibility to and neuroleptic response in schizophrenia.
Analysis of clozapine response and polymorphisms of the dopamine D4 receptor gene (DRD4) in schizophrenic patients.
We have examined the hypothesis that a variable number of tandem repeats in the third cytoplasmic loop of the dopamine D4 receptor influences clinical response to clozapine using a sample of 189…
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References

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