Open AccessIdentifying polymorphisms in the Rattus norvegicus D 3 dopamine receptor gene and regulatory region
Author(s) -
Smits B. M. G.,
D'Souza U. M.,
Berezikov E.,
Cuppen E.,
Sluyter F.
Publication year - 2004
Publication title -
genes, brain and behavior
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.315
H-Index - 91
eISSN - 1601-183X
pISSN - 1601-1848
DOI - 10.1111/j.1601-183x.2004.00060.x
Subject(s) - biology , genetics , gene , single nucleotide polymorphism , exon , intron , 5' flanking region , dopamine receptor d3 , regulatory sequence , gene isoform , transcription factor , dopamine receptor , gene expression , microbiology and biotechnology , promoter , receptor , genotype
The D 3 dopamine receptor has been implicated in several neuropsychiatric disorders, including schizophrenia, Parkinson's disease and addiction. Sequence variation in the D 3 gene can lead to subtle alteration in receptor structure or gene expression and thus to a different phenotype. In this study we examine the sequence variation in the D 3 gene in 96 rat strains and substrains. Interestingly, the analyses revealed 10 polymorphisms in the 5′flanking region and four polymorphisms in intronic regions of the gene. Moreover, two single nucleotide polymorphisms (SNPs) that result in amino acid changes were found in the last exon of the D 3 gene in the RNU/Mol strain. Additionally, bioinformatic analysis of the 5′flanking region and first intron of the gene revealed putative transcription factor binding sites that are conserved between mouse and human and are affected by the SNPs, possibly resulting in altered regulation of the subsequent transcription factor.