Transcriptional Regulators of Steroidogenesis, DAX-1 and SF-1, are Expressed in Human Skin

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty an...

Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis.

The nuclear receptor steroidogenic factor 1 (SF-1) is essential for adrenal development and steroidogenesis. The atypical orphan nuclear receptor Dax-1 binds to SF-1 and represses SF-1 target genes. Paradoxically, however, loss-of-function mutations of Dax-1 also cause adrenal hypoplasia, suggesting that Dax-1 may function as an SF-1 coactivator under some circumstances. Indeed, we found that D...

The role of DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal function

Wilms' Tumor 1 and Dax-1 Modulate the Orphan Nuclear Receptor SF-1 in Sex-Specific Gene Expression

Products of steroidogenic factor 1 (SF-1) and Wilms' tumor 1 (WT1) genes are essential for mammalian gonadogenesis prior to sexual differentiation. In males, SF-1 participates in sexual development by regulating expression of the polypeptide hormone Müllerian inhibiting substance (MIS). Here, we show that WT1 -KTS isoforms associate and synergize with SF-1 to promote MIS expression. In contrast...

Adrenal Organogenesis and 2 Steroidogenesis Role of Nuclear Receptors Steroidogenic Factor-1, DAX-1, and Estrogen Receptor

Steroid hormone biosynthesis by the fetal adrenal gland is crucial to the integrity and continuation of pregnancy, growth of the fetal and maternal tissues, as well as perinatal homeostatic adaptation for extrauterine survival. The adrenal cortex in the primate undergoes a remarkable morphological and functional remodeling such that the fetal adrenal cortex transforms into an adult adrenal cort...