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

FEBS Letters

Kobzev, Viktor F¹  Kolchanov, Nikolay A¹  Vasiliev, Gennady V¹  Merkulova, Tatyana I¹  Merkulov, Vasily M¹  Ponomarenko, Mikhail P¹ 

[1] Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk 630090, Russia

关键词: Tryptophan oxygenase gene;    Binding site;    YY-1 transcription factor;    Mutation;    Psychiatric disorder;   

DOI  :  10.1016/S0014-5793(99)01513-6

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown