A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

Complete Androgen Insensitivity Syndrome in Three Sisters

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mechanism of AR disruption leading to CAIS in two 46,XY sisters. We analyzed whole-genome sequencing ...

A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse.

The testicular feminized (Tfm) mouse lacks completely androgen responsiveness; and therefore, is unique for studying the role of androgenic steroids in different biological processes. In order to understand the molecular basis of this mutation, 2.8 kilobases of cDNA encoding the Tfm mouse androgen receptor (AR) were amplified with a polymerase chain reaction (PCR) technique. No large deletion i...

Androgen Receptor Amino-terminal Mutation Causes Reduced Protein Translation

The role of the androgen receptor (AR) in male sexual differentiation is revealed in part by the analysis of naturally occurring mutations in families with androgen insensitivity syndrome (AIS). We have investigated a family with partial AIS affecting three generations and have identified a G to A substitution in the AR gene at the fourth position 3 9 from the A of the ATG initiation codon chan...

بررسی جهش‌های ژن AR در زنان مبتلا به ناباروری

Background : Infertility is a multifactorial disease. Hormonal disorders and genetic factors are important in female infertility. Development and maturation of ovulation are depending on the molecular signaling pathways in response to androgens. Over hundreds of mutations leading to resistance gene function in androgen receptor (AR) has been recorded. One of them is polymorphic region 5'UTR. Th...