Article
A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators.
Proceedings of the National Academy of Sciences of the United States of America - 7 Jan 1997
Collingwood T N, Rajanayagam O, Adams M, Wagner R, Cavaillès V, Kalkhoven E, Matthews C, Nystrom E, Stenlof K, Lindstedt G, Tisell L, Fletterick R J, Parker M G, Chatterjee V K
Abstract excerpt
The syndrome of resistance to thyroid hormone is characterized by elevated serum free thyroid hormones, failure to suppress pituitary thyrotropin secretion, and variable peripheral refractoriness to hormone action. Here we describe a novel leucine to valine mutation in codon 454 (L454V) of the thyroid hormone beta receptor (TR beta) in this disorder, resulting in a mutant receptor with unusual functional...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Binding Sites
- DNA-Binding Proteins
- Dimerization
- Genes, Reporter
- Histone Acetyltransferases
- Humans
- Leucine