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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
Author(s) -
Vasiliev Gennady V,
Merkulov Vasily M,
Kobzev Viktor F,
Merkulova Tatyana I,
Ponomarenko Mikhail P,
Kolchanov Nikolay A
Publication year - 1999
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(99)01513-6
Subject(s) - intron , point mutation , gene , microbiology and biotechnology , genetics , transcription factor , binding site , electrophoretic mobility shift assay , allele , transcription (linguistics) , promoter , biology , mutation , gene expression , linguistics , philosophy
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.