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A polymorphic dinucleotide repeat in the human dopamine D5 receptor gene promoter
T V Beischlag1, D Nam, C Ulpian
1Department of Pharmacology, University of Toronto, Ontario, Canada.
Neuroscience Letters
|March 1, 1996
Summary
This study identified new alleles of the dopamine D5 receptor gene
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The 5'-flanking region of the human dopamine D5 receptor (D5) gene contains a critical transactivation domain.
- A (TC)13 dinucleotide repeat was previously identified within this regulatory region.
Purpose of the Study:
- To investigate the allelic variations of the (TC) dinucleotide repeat in the D5 receptor gene.
- To assess the functional impact of these variations on D5 gene promoter activity.
Main Methods:
- Screening of genomic DNA from 18 unrelated individuals using single-strand conformation polymorphism (SSCP) analysis.
- Luciferase reporter assays to measure D5 promoter activity with different repeat lengths.
Main Results:
- SSCP analysis identified two new alleles: (TC)12 and (TC)14, in addition to the previously known (TC)13.
- No significant difference in D5 promoter-mediated luciferase activity was observed between the wild-type and the newly identified alleles.
Conclusions:
- Small variations in the number of (TC) dinucleotide repeats in the D5 receptor gene do not appear to affect its transactivation.
- These findings suggest that the D5 receptor's transcriptional regulation is robust to minor changes in this specific repeat element.