The unusual orphan member of the nuclear hormone receptor superfamily DAX-1 (NROB1) 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. On the other side, DAX-1 gene mutations are responsible for adrenal hypoplasia congenita, invariably associated with hypogonadotropic hypogonadism. 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 adrenal hypoplasia congenita.
CITATION STYLE
Lalli, E., & Sassone-Corsi, P. (2003, August 1). DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Molecular Endocrinology. https://doi.org/10.1210/me.2003-0159
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