title: Genetic variability of the extraneuronal monoamine transporter EMT (SLC22A3).
abstract: The extraneuronal monoamine transporter EMT (HGNC Nomenclature SLC22A3) is the molecular correlate of the classical uptake(2) system responsible for the non-neuronal inactivation of circulating and centrally released catecholamines. Because of its functional profile and expression pattern, EMT is regarded as a candidate gene for diseases related to the sympathetic nervous system and neuropsychiatric disorders. We describe the first investigation of the genetic variability of the EMT gene in human. Six single-nucleotide substitutions and one deletion were detected within the assumed core promoter, the exonic and flanking intronic sequences and the 3'-untranslated region in 100 Caucasian individuals. No amino acid changes were found and Tajima's D was positive (D=2.91; P<0.01). However, the synonymous nucleotide substitution 1233G-->A might serve as a cryptic splice acceptor site. Analysis of linkage disequilibrium between polymorphisms yielded 12 possible haplotypes accounting for more than 90% of all haplotypes. Knowledge of the sequence variation and frequency of the underlying polymorphisms in this member of the amphiphilic solute facilitator family of transporters provides the basis for subsequent association studies and candidate gene approaches.
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany. andreas.lazar@medizin.uni-koeln.de.
authors.forename: Andreas
authors.initials: A
authors.lastname: Lazar
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Gründemann
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Berkels
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Taubert
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany.
authors.forename: Tim
authors.initials: T
authors.lastname: Zimmermann
authors.affiliation: Department of Pharmacology, School of Medicine and Dentistry, University of Cologne, Gleueler Strasse 24, 50931, Cologne, Germany.
authors.forename: Edgar
authors.initials: E
authors.lastname: Schömig
mesh_terms: D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044465:White People / Q000235:genetics; D000099254:Organic Cation Transporter 3
chemical_list: D027701:Organic Cation Transport Proteins; D000099254:Organic Cation Transporter 3