Article
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes.
Molecular endocrinology (Baltimore, Md.) - 1 Aug 2004
Elhaji Youssef A, Wu Jian Hui, Gottlieb Bruce, Beitel Lenore K, Alvarado Carlos, Batist Gerald, Trifiro Mark A
Abstract excerpt
Two substitutions at an identical location in the ligand-binding domain (LBD) of the human androgen receptor (AR), R855C and R855H, are associated with complete androgen insensitivity syndrome (AIS) and partial AIS, respectively. Kinetic analysis of the mutant receptors in genital skin fibroblasts and in transfected cells revealed very low total binding (Bmax) and increased rate constants of dissociation (k) for...
Topics
- Adult
- Androgen-Insensitivity Syndrome
- Androgens
- Animals
- Arginine
- Cell Line
- Chlorocebus aethiops
- Crystallography, X-Ray
- Female
- Humans
- Infant
- Male
- Models, Molecular
- Mutation