title: The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression.
abstract: 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.
authors.affiliation: Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fuke
authors.forename: S
authors.initials: S
authors.lastname: Suo
authors.forename: N
authors.initials: N
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Koike
authors.forename: N
authors.initials: N
authors.lastname: Sasagawa
authors.forename: S
authors.initials: S
authors.lastname: Ishiura
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002522:Chlorocebus aethiops; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D050483:Dopamine Plasma Membrane Transport Proteins; D005091:Exons; D005786:Gene Expression Regulation; D006801:Humans; D008156:Luciferases / Q000235:genetics; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins / Q000235:genetics*; D018598:Minisatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D011110:Polymorphism, Genetic
chemical_list: D020413:3' Untranslated Regions; D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493214:SLC6A3 protein, human; D004247:DNA; D008156:Luciferases