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Submitted on April 25, 2003
Accepted on May 14, 2003
1 Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Université Louis Pasteur, B.P. 163, 67404 Illkirch, Strasbourg, France
* To whom correspondence should be addressed. E-mail: ninino{at}igbmc.u-strasbg.fr.
The unusual orphan member of the nuclear hormone receptor superfamily DAX-1 (NR0B1) owes its name to its double role in human pathology. On one side, duplications in Xp21, containing the DAX-1 gene, cause phenotypic sex reversal in XY individuals (DSS). On the other side, DAX-1 gene mutations are responsible for adrenal hypoplasia congenita (AHC), invariably associated with hypogonadotropic hypogonadism (HHG). DAX-1 functions as a global negative regulator of steroid hormone production by repressing the expression of multiple genes involved in the steroidogenic pathway. Here we review the mechanism of DAX-1 function in adrenal and gonadal differentiation, with special emphasis on recent results showing the critical role of DAX-1 protein misfolding in the pathogenesis of AHC.
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