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
Autor: | Zsolt Ronai, R. Szmola, Andras Guttman, E. Szantai, Maria Sasvari-Szekely |
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Jazyk: | angličtina |
Rok vydání: | 2005 |
Předmět: |
Candidate gene
lcsh:QH426-470 Biology medicine.disease_cause Gene Frequency Genetics medicine Consensus sequence Humans Allele Promoter Regions Genetic Allele frequency Gene Genetics (clinical) Mutation Binding Sites Polymorphism Genetic Receptors Dopamine D4 Promoter Molecular biology lcsh:Genetics Restriction fragment length polymorphism Gene Deletion Research Article Transcription Factors |
Zdroj: | BMC Genetics, Vol 6, Iss 1, p 39 (2005) BMC Genetics |
ISSN: | 1471-2156 |
Popis: | Background The human dopamine D4 receptor (DRD4) is a candidate gene of great interest in molecular studies of human personality and psychiatric disorders. This gene is unique in having an exceptionally high amount of polymorphic sites both in the coding and in the promoter region. Results We report the identification of a new 27 bp deletion starting 524 bp upstream of the initiation codon (27 bp del) of the dopamine D4 receptor (DRD4) gene, in the close vicinity of the -521C>T SNP. The presence of the 27 bp deletion leads to the misgenotyping of the -616C>G SNP by the Sau 96 I RFLP method, thus the genotype determination of the mutation is of additional importance. The frequency of this novel sequence variation is considerably low (allele frequency is = 0.16%), as no homozygotes, and only 3 heterozygote carriers were found in a healthy, unrelated Caucasian sample (N = 955). Conclusion Remarkably, the deleted region contains consensus sequences of binding sites for several known transcription factors, suggesting that the different alleles may affect the transcriptional regulation of the gene. A comparison of methods and results for the allelic variations of the DRD4 gene in various ethnic groups is also discussed, which has a high impact in psychiatric genetic studies. |
Databáze: | OpenAIRE |
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