Article
A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes.
The Journal of biological chemistry - 13 Oct 2000
Ito M, Achermann J C, Jameson J L
Abstract excerpt
Steroidogenic factor-1 (SF-1) is an orphan nuclear receptor that binds DNA as a monomer and regulates the transcription of multiple target genes. A mutation in the proximal (P)-box of the first zinc finger of SF-1 (G35E) has been reported to cause complete XY sex reversal and adrenal insufficiency. Because this P-box region dictates DNA binding specificity, we investigated the effect of this mutation on DNA...
Topics
- Amino Acid Sequence
- Animals
- Aromatase
- Base Sequence
- Binding Sites
- Cell Line
- DNA
- DNA-Binding Proteins
- Fushi Tarazu Transcription Factors
- Homeodomain Proteins
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Promoter Regions, Genetic