Article
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
The Journal of clinical endocrinology and metabolism - 1 Jul 1993
Nakao R, Yanase T, Sakai Y, Haji M, Nawata H
Abstract excerpt
The androgen receptor (AR) from a patient with Reifenstein syndrome (incomplete androgen insensitivity syndrome) was characterized. The patient's pubic skin fibroblasts had normal androgen binding. However, when incubated at 41 C, fibroblasts from the patient had a marked decrease in androgen bin...
Topics
- Adult
- Androgens
- Base Sequence
- Binding Sites
- Blotting, Western
- Cells, Cultured
- DNA
- Disorders of Sex Development
- Fibroblasts
- Glycine
- Hot Temperature
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Receptors, Androgen
- Syndrome