title: The human serotonin transporter gene polymorphism--basic research and clinical implications.
abstract: Mood, emotion, and cognition are modulated by the serotonergic midbrain raphe system, which seems to be involved in the pathogenesis of psychiatric disorders like those of the affective spectrum. Since a dysregulation of serotonin transporter expression might be important in the course of those disorders, we isolated and cloned the 5'-regulatory region of the serotonin transporter gene, which is inducible by cAMP- and PKC-depended signal transduction pathways. Systematic screening for length variations and functional promoter analyses revealed a genetic polymorphism with allelic variation in transcriptional activity and protein expression. This 5-HTT gene polymorphism comprises a tandemly repeated sequence in the 5'-regulatory promoter region of the serotonin transporter gene. Recent population association studies demonstrated the 5-HTT gene promoter polymorphism accounting for 4-5% of population variation of anxiety-related behavioral traits.
authors.affiliation: Department of Psychiatry, University of Würzburg, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Heils
authors.forename: R
authors.initials: R
authors.lastname: Mössner
authors.forename: K P
authors.initials: KP
authors.lastname: Lesch
mesh_terms: D001402:B-Lymphocytes / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D008156:Luciferases / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012701:Serotonin / Q000378:metabolism; D050486:Serotonin Plasma Membrane Transport Proteins; D014158:Transcription, Genetic; D014162:Transfection
chemical_list: D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin; D008156:Luciferases