ea0064001 | Androgen Insensitivity Syndrome can be due to a dimerization defect in the androgen receptor | BES2019
El Kharraz S
, Helsen C
, Hochepied T
, Libert C
, Vanderschueren D
, Claessens F
Mutations in the androgen receptor (AR) are associated with androgen insensitivity syndrome (AIS). Most AIS mutations affect either hormone, DNA or coactivator binding to the AR, but for some mutations there was no explanation yet. Recently, a crystal structure revealed a possible dimerization interface in the ligand binding domain (LBD) of the AR.1 To test the physiological relevance of this LBD dimerization, we generated a mouse model with a W732R mutation located...