Molecular studies on the role of the androgen receptor in male infertility have thus far concentrated solely on exonic regions of the androgen receptor gene. We have therefore screened for the first time the androgen receptor gene 5' untranslated region (nucleotides -153 to +237 ) in 240 males with idiopathic infertility for lesions which could potentially impair spermatogenesis. This region en...

Androgens are presumed to influence gene transcription by modifying the association of the androgen receptor with specific nuclear sites. However, the details of this process are still obscure. Elucidation of the mechanisms involved is complicated by the diversity of androgen binding within targetcell nuclei and by a lack of understanding of the interaction o f androgen receptors with androgen-...

We aim to correlate point mutations in the androgen receptor gene with receptor phenotypes and with clinical phenotypes of androgen resistance. In two families, the external genitalia were predominantly female at birth, and sex-ofrearing has been female. Their androgen receptor mutation changed arginine-839 to histidine. In a third family, the external genitalia were predominantly male at birth...

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously rep...

The Wnt signaling pathway is aberrantly activated in many tumor types, including those of the prostate, in which beta-catenin accumulates in cell nuclei and acts as a transcriptional coregulator for the androgen receptor. Because activating mutations in the beta-catenin gene are rare in prostate cancer, we have looked for altered expression of other components of the Wnt signaling pathway in pr...

repeat and serum testosterone in the risk of Alzheimer’s disease in men We recently reported that the glutamine (CAG) repeat polymorphism of exon 1 of the androgen receptor was associated with Alzheimer’s disease in men from the Oxford region. If this androgen receptor polymorphism indeed affects Alzheimer’s disease risk rather than being in linkage disequilibrium with the true risk factor, the...

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...

Treatment for prostatic adenocarcinoma is reliant on the initial androgen dependence of this tumor type. The goal of therapy is to eliminate androgen receptor activity, either through direct inhibition of the receptor or through inhibition of androgen synthesis. Although this course of therapy is initially effective, androgen-refractory tumors ultimately arise and lead to patient morbidity. Fac...