The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression

Pharmacogenomics J. 2001;1(2):152-6. doi: 10.1038/sj.tpj.6500026.


The human dopamine transporter (DAT1) gene contains a variable number of tandem repeats (VNTR) in its 3'-untranslated region (UTR). The linkage and association between the VNTR polymorphism of DAT1 and various neuropsychiatric disorders have been reported. We have determined the genomic structure of DAT1 genes containing 7-, 9-, 10-, and 11-repeat alleles and examined the effect of VNTR polymorphism in the 3'-UTR region of DAT1 on gene expression using the luciferase reporter system in COS-7 cells. Luciferase expression was significantly higher when the 3'-UTR of the DAT1 gene contained the 10-repeat allele than when it contained the 7- or 9-repeat alleles. This suggests that VNTR polymorphism affects the expression of the dopamine transporter.

MeSH terms

  • 3' Untranslated Regions / genetics
  • Alleles
  • Animals
  • Base Sequence
  • COS Cells
  • Chlorocebus aethiops
  • DNA / genetics
  • DNA / isolation & purification
  • Dopamine Plasma Membrane Transport Proteins
  • Exons
  • Gene Expression Regulation*
  • Humans
  • Luciferases / genetics
  • Membrane Glycoproteins*
  • Membrane Transport Proteins / genetics*
  • Minisatellite Repeats / genetics*
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Polymorphism, Genetic*


  • 3' Untranslated Regions
  • Dopamine Plasma Membrane Transport Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A3 protein, human
  • DNA
  • Luciferases