DAX-1, an Unusual Orphan Receptor at the Crossroads of Steroidogenic Function and Sexual Differentiation | Zendy

Enzo Lalli | Zendy; Paolo Sassone–Corsi | Zendy

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DAX-1, an Unusual Orphan Receptor at the Crossroads of Steroidogenic Function and Sexual Differentiation

Author(s) -

Enzo Lalli,

Paolo Sassone–Corsi

Publication year - 2003

Publication title -

molecular endocrinology

Language(s) - English

Resource type - Journals

eISSN - 1944-9917

pISSN - 0888-8809

DOI - 10.1210/me.2003-0159

Subject(s) - hypogonadotropic hypogonadism , biology , nuclear receptor , steroidogenic factor 1 , orphan receptor , disorders of sex development , adrenal insufficiency , sexual differentiation , sex reversal , genetics , endocrinology , regulator , steroid hormone , gene , receptor , hormone , transcription factor

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. 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.

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