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Androgen receptor in sexual differentiation.
I Mowszowicz1, D Stamatiadis, F Wright
1Biochemistry Laboratory B, Hôpital Necker, Paris, France.
Journal of Steroid Biochemistry
|January 1, 1989
Summary
Androgen receptor (AR) instability causes androgen insensitivity, impacting male sexual differentiation. Further research is needed to identify genetic or regulatory defects in the AR.
Area of Science:
- Endocrinology
- Molecular Biology
- Genetics
Background:
- Androgens are crucial for male sexual differentiation, acting via the androgen receptor (AR).
- The normal AR is a soluble, thermolabile protein (90 kDa, pI 5.2).
- AR regulation by androgens in vitro is known, but its physiological significance is debated.
Purpose of the Study:
- To investigate the role of androgen receptor (AR) abnormalities in androgen insensitivity.
- To explore the causes of qualitative AR defects despite normal androgen binding capacity.
Main Methods:
- Characterization of normal AR properties using 2D gel electrophoresis.
- Analysis of clinical and biochemical findings in androgen insensitivity cases.
Main Results:
- Androgen insensitivity can occur with normal androgen binding but abnormal AR function.
- Qualitative AR abnormalities, particularly extreme instability, are implicated.
- No clear correlation exists between clinical presentation and biochemical findings.
Conclusions:
- Extreme AR instability is a key feature in androgen insensitivity.
- The underlying defects may stem from AR gene mutations or transcriptional/post-transcriptional issues.
- Development of AR antibodies or cDNA probes is essential for further investigation.