Expression of the dopamine transporter gene is regulated by the 3′ UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCR

Mill, Jonathan; Asherson, Philip; Browes, Clare; D'Souza, Ursula; Craig, Ian

doi:10.1002/ajmg.b.10948

Cited by 341Neurotransmitter Receptor Influence on BehaviorAttention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Expression of the dopamine transporter gene is regulated by the 3′ UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCR

Mill, Jonathan, Asherson, Philip, Browes, Clare, D'Souza, Ursula, Craig, Ian·2002·American Journal of Medical Genetics

DOI 10.1002/ajmg.b.10948

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Abstract

Genetic association studies provide considerable evidence that the 10-repeat allele of a variable number tandem repeat (VNTR) in the 3'-untranslated region (3'-UTR) of the dopamine transporter gene (DAT1) is associated with a range of psychiatric phenotypes, most notably, attention deficit hyperactivity disorder. The mechanism for this association is not yet understood, although several lines of evidence implicate variation in gene expression. In this study, we measured DAT1 messenger RNA levels in cerebellum, temporal lobe, and lymphocytes using quantitative real-time reverse-transcription polymerase chain reaction. Relative to a set of four control housekeeping genes (beta-actin, GAPD, ribosomal 18S, and beta2-microglobulin) we observed that increased levels of DAT1 expression were associated with the number of 10-repeat alleles. These data provide direct evidence that the VNTR, or another polymorphism in linkage disequilibrium with the VNTR, is involved in regulating expression of this gene.

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DAT binding site density is significantly less for the 9-repeat allele than the 10-repeat allele, linking the 9-repeat allele with reduced DAT expression and greater striatal synaptic DA, although some studies suggest the opposite.
“The DAT binding site density for the most common repeat alleles (9-repeat and 10-repeat) is significantly less for the 9-repeat allele than the 10-repeat allele, linking the 9-repeat allele with reduced DAT expression and greater striatal synaptic DA (Fuke, Suo et al. 2001; Mill, Asherson et al. 2002; VanNess, Owens et al. 2005), although some studies have suggested the opposite (Mill, Asherson et”
From Developmental imaging genetics: Linking dopamine function to adolescent behavior (2014) · cites this paper as Mill, Asherson et al. 2002

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Transient expression analysis of allelic variants of a VNTR in the dopamine transporter gene (DAT1)
Mill, J. S., Asherson, P. J., Craig, I., & D’Souza, U. M. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-3 · Cited by 91 · see citing works
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The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression
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In This Issue
(2001) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500040
Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post‐mortem midbrain tissue
Brookes, K. J., Neale, B. M., Sugden, K., Khan, N., Asherson, P. J., & D’Souza, U. M. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30572 · Cited by 94 · see citing works
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The variable number of tandem repeats element in DAT1 regulates in vitro dopamine transporter density
VanNess, S., Owens, M. J., & Kilts, C. D. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-55 · Cited by 306 · see citing works

Authors: Mill, J., Asherson, P., Browes, C., D'Souza, U., & Craig, I.
Affiliations: King's College London (GB)
Corresponding author: Mill, Jonathan
ORCID: Mill, Jonathan
Asherson, Philip
Craig, Ian
Venue: American Journal of Medical Genetics
Publisher: Wiley
Published: 2002-10-07
Volume: 114
Issue: 8
Pages: 975-979
ISSN: 0148-7299 (ISSN-L)
1096-8628
DOI: 10.1002/ajmg.b.10948
OpenAlex: W1997639097
Cited by: 341
References: 24
Citations by year: 2026: 7 · 2025: 3 · 2024: 4 · 2023: 5 · 2022: 2 · 2021: 8 · 2020: 5 · 2019: 10 · 2018: 7 · 2017: 14 · 2016: 11 · 2015: 15 · 2014: 16 · 2013: 27 · 2012: 26
FWCI: 5.23
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Research Portal (King's College London) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: dopamine transporter gene, DAT1, 3' untranslated region, variable number tandem repeats, VNTR polymorphism, gene expression regulation, mRNA levels, cerebellum, temporal lobe, lymphocytes, attention deficit hyperactivity disorder, genetic association, housekeeping genes
MeSH terms: Attention Deficit Disorder with Hyperactivity, Brain, Gene Expression Regulation, Humans, Lymphocytes, Membrane Glycoproteins, Nerve Tissue Proteins, Minisatellite Repeats, Reverse Transcriptase Polymerase Chain Reaction, 3' Untranslated Regions, Membrane Transport Proteins, Dopamine Plasma Membrane Transport Proteins

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Expression of the dopamine transporter gene is regulated by the 3′ UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCR

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