Article
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 1990
Sakurai A, Miyamoto T, Refetoff S, DeGroot L J
Abstract excerpt
An abnormal human thyroid hormone beta-receptor (hTR beta-Mf), which has a glycine to arginine substitution in the hormone-binding domain, has been identified in affected members of one family with generalized resistance to thyroid hormone. To better understand the mechanism by which this mutation produces the observed abnormality, expression vectors for the wild-type and mutant thyroid hormone receptors (TRs)...
Topics
- Animals
- Binding Sites
- Cell Line
- Chloramphenicol O-Acetyltransferase
- Cloning, Molecular
- DNA
- Enhancer Elements, Genetic
- Gene Expression Regulation
- Humans
- Mutation
- Plasmids