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      Data describing the effect of DRD4 promoter polymorphisms on promoter activity

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      Data in Brief
      Elsevier

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          Abstract

          This data article tested whether polymorphisms within the dopamine D4 receptor ( DRD4) gene promoter can lead to differences in the promoter activity. The variants, a 120-bp variable number tandem repeat (VNTR), −906 T/C, −809 G/A, −616G/C, and −521C/T, were introduced into the DRD4 promoter and the promoter activity was measured in a neural cell line using the luciferase assay. However, no differences were detected among the haplotypes investigated, and the in vitro data obtained from our protocol could not support the involvement of DRD4 promoter polymorphisms in heritable human traits.

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          Functional effects of a tandem duplication polymorphism in the 5'flanking region of the DRD4 gene.

          Several polymorphisms have been identified in the 5'flanking region of the human dopamine D(4) receptor gene (DRD4), including a tandem duplication polymorphism. This comprises a 120-base-pair repeat sequence that is known to have different allele frequencies in various populations around the world. Furthermore, various studies have revealed evidence of linkage to attention-deficit/hyperactivity disorder and association with schizophrenia and methamphetamine abuse. The location of the polymorphism in the 5'regulatory region of the DRD4 gene and the fact that it consists of potential transcription factor binding sites suggest that it might confer differential transcriptional activity of the alleles. We investigated the functional effects of this gene variant with transient transfection methods in four human cell lines and then assessed transcriptional activity with luciferase reporter gene assays. The longer allele has lower transcriptional activity than the shorter allele in SK-N-MC, SH-SY5Y, HEK293, and HeLa cell lines. This evidence suggests that the duplication might have a role in regulating the expression of the DRD4 gene and provides an understanding of the biological mechanisms underlying the etiology of neuropsychiatric disorders such as ADHD, schizophrenia, and metamphetamine abuse.
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            Identification of a polymorphism in the promoter region of DRD4 associated with the human novelty seeking personality trait.

            Polymorphism in the human dopamine D4 receptor gene (DRD4) exon III has been associated in some but not all studies of the human personality trait of Novelty Seeking. We searched for polymorphisms in the 5' region of DRD4 and identified six polymorphisms as follows: -1217G Ins/Del, -809G/A, -616C/G, -603T Ins/Del, -602(G)8-9, and -521C/T. Associations between these polymorphisms and personality traits measured by the Temperament and Character Inventory (TCI) were investigated in 86 healthy Japanese volunteers. The -521C/T polymorphism was significantly associated with Novelty Seeking (P = 0.0001). Subjects with the C/C genotype exhibited the highest Novelty Seeking scores and those with the T/T genotype exhibited the lowest. A transient expression method revealed that the T variant of the C-521T polymorphism reduces transcriptional efficiency. The present study suggests a contribution of dopamine D4 receptor availability to individual differences in Novelty Seeking behavior. Molecular Psychiatry (2000) 5, 64-69.
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              Association between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder: genetic and molecular analyses.

              Abnormalities of the dopamine neurotransmission have been hypothesized to play an important role in the pathophysiology of attention deficit hyperactivity disorder (ADHD). Promoter variants of the dopamine D4 receptor gene (DRD4) have attracted particular interest due to their possible role in regulation of gene transcription. Here we describe the haplotype analysis of the 120 base pair duplication (120-bp dup) and three SNPs (-616C/G, -615A/G, -521C/T) in the 5' region of the DRD4 gene among children with ADHD. We observed a trend (chi(2) = 14.905, df = 9, P = 0.093) in the four-locus haplotype distribution between ADHD probands (N = 173) and controls (N = 284). The homozygote genotype of the 1-repeat form of the 120-bp dup (1-1) had a significantly higher frequency among ADHD children than in controls (8.1% vs. 3.2%, chi(2) = 5.526, df = 1, P = 0.019, Odds Ratio = 2.71). In addition, a novel, 4-repeat allele was identified among ADHD patients. This particular allele has been cloned to the luciferase expression vector and its transcriptional activity has been compared to the 1- and 2-repeat allele. The number of repeats of the 120-bp dup was found to have an effect on transcriptional activity in both neuroblastoma and retinoblastoma cell lines in a dose-dependent manner (1-repeat > 2-repeat > 4-repeat). These results suggest that the 1-repeat form of the 120-bp dup might be a risk factor of ADHD, especially in the homozygous form and/or in the context of certain haplotypes. (c) 2007 Wiley-Liss, Inc.
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                Author and article information

                Contributors
                Journal
                Data Brief
                Data Brief
                Data in Brief
                Elsevier
                2352-3409
                01 April 2016
                June 2016
                01 April 2016
                : 7
                : 1112-1117
                Affiliations
                [0005]Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, 3-8-1 Komaba, Meguro-ku, Tokyo, Japan
                Author notes
                Article
                S2352-3409(16)30192-5
                10.1016/j.dib.2016.03.084
                4833125
                27115024
                0d2c2edc-6369-4183-8f0f-41a235f81be0
                © 2016 Published by Elsevier Inc.

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                : 21 December 2015
                : 20 March 2016
                : 24 March 2016
                Categories
                Data Article

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