• PMID: 7649349
• Gene Name: AR
• Condition: CAIS
• Association: Androgen-binding assay of the mutated transfected cells assessed the lack of androgen-binding. Gel retardation assay demonstrated the ability of the mutant to bind target DNA; however, the mutant was unable to transactivate a reporter gene. Although the r
• Mutation: 13 base pair deletion within exon 4 -> stop codon at position 783 instead of 919
• Population size: 4
• Population details: 4 CAIS
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: CAIS

Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor

Lobaccaro JM, Lumbroso S, Poujol N, Georget V, Brinkmann AO, Malpuech G, Sultan C.

We studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for a predictive frameshift in the open reading frame and introduction of a premature stop codon at position 783 instead of 919. The deletion was reproduced in androgen receptor wildtype cDNA and transfected into mammalian cells. Western blot showed a smaller androgen receptor of 94 kDa for the transfected mutated cDNA instead of 110 kDa. Androgen-binding assay of the mutated transfected cells assessed the lack of androgen-binding. Gel retardation assay demonstrated the ability of the mutant to bind target DNA; however, the mutant was unable to transactivate a reporter gene. Although the role of the partial deletion in the lack of androgen action was expected, in vitro analyses highlight the role of the abnormal C-terminal portion in the inhibition of the receptor transregulatory activity of the protein causing androgen resistance in this family. FAU - Lobaccaro, J M AU - Lobaccaro JM AD - Centre de Recherches de l'Institut National de la Santé et de la Recherche Médicale, INSERM, Montpellier, France. FAU - Lumbroso, S AU - Lumbroso S FAU - Poujol, N AU - Poujol N FAU - Georget, V AU - Georget V FAU - Brinkmann, A O AU - Brinkmann AO FAU - Malpuech, G AU - Malpuech G