DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation

被引：130

作者：

Lalli, E ^{[1
]}

Sassone-Corsi, P ^{[1
]}

机构：

[1] Univ Strasbourg 1, Inst Genet & Biol Mol & Cellulaire, CNRS, INSERM, F-67404 Illkirch Graffenstaden, France

来源：

MOLECULAR ENDOCRINOLOGY | 2003年 / 17卷 / 08期

关键词：

D O I：

10.1210/me.2003-0159

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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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页码：1445 / 1453

页数：9

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