title: Point mutations within 663-666 bp of intron 6 of the human TDO2 gene, associated with a number of psychiatric disorders, damage the YY-1 transcription factor binding site.
abstract: Single base mutations G-->A at position 663 and G-->T at position 666 of intron 6 of the human tryptophan oxygenase gene (TDO2) are associated with a variety of psychiatric disorders [Comings, D.E. et al. (1996) Pharmacogenetics 6, 307-318]. Binding of rat liver nuclear extract proteins to synthetic double-strand oligonucleotides corresponding to three allelic states of the region between 651 bp and 680 bp of human TDO2 intron 6 has been studied by gel shift assay. It has been demonstrated that to each allelic state of the region there corresponds a specific set of proteins that interacts with it. With the aid of computer analysis and using specific anti-YY-1 antibodies it has been shown that both mutations damage the YY-1 transcription factor binding site.
authors.affiliation: Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, Russia.
authors.forename: G V
authors.initials: GV
authors.lastname: Vasiliev
authors.forename: V M
authors.initials: VM
authors.lastname: Merkulov
authors.forename: V F
authors.initials: VF
authors.lastname: Kobzev
authors.forename: T I
authors.initials: TI
authors.lastname: Merkulova
authors.forename: M P
authors.initials: MP
authors.lastname: Ponomarenko
authors.forename: N A
authors.initials: NA
authors.lastname: Kolchanov
mesh_terms: D000818:Animals; D001665:Binding Sites; D004249:DNA Damage; D004268:DNA-Binding Proteins / Q000378:metabolism*; D050981:Erythroid-Specific DNA-Binding Factors; D006801:Humans; D007438:Introns; D001523:Mental Disorders / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D051381:Rats; D014157:Transcription Factors / Q000378:metabolism*; D014366:Tryptophan Oxygenase / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D014157:Transcription Factors; D014366:Tryptophan Oxygenase