Androgen receptor in sexual differentiation.
Androgens play an essential role in sexual differentiation and their action is mediated by the androgen receptor (AR). The normal AR is a soluble protein, highly thermolabile, with a mol. wt of 90 kDa and a pI of 5.2 as determined by 2 dimensional (2D) gel electrophoresis. It is regulated by androgens in culture conditions but the physiological relevance of this regulation remains controversial. The presence of a functional AR is an absolute requirement for male sexual differentiation and its absence results in complete insensitivity. However, androgen insensitivity (complete or partial) can develop in the presence of a normal androgen binding capacity and there is no correlation between the clinical and the biochemical findings. A number of qualitative abnormalities have been described to explain the failure of androgen action in these cases: they all emphasize the extreme instability of the abnormal AR. It is difficult at the present time to determine whether these abnormalities result from structural mutations of the AR gene, transcriptional or post-transcriptional abnormalities. Further elucidation of these defects awaits for an antibody and/or a cDNA probe for the AR.
Mowszowicz
I
I
Biochemistry Laboratory B, Hôpital Necker, Paris, France.
Stamatiadis
D
D
Wright
F
F
Kuttenn
F
F
Mauvais-Jarvis
P
P
D000818:Animals; D012734:Disorders of Sex Development / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D011944:Receptors, Androgen / Q000502:physiology*; D012733:Sex Differentiation
D011944:Receptors, Androgen