title: Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease.
abstract: The orphan nuclear receptor steroidogenic factor 1 (SF-1, also called Ad4BP, encoded by the NR5A1 gene) is an essential regulator of endocrine development and function. Initially identified as a tissue-specific transcriptional regulator of cytochrome P450 steroid hydroxylases, studies of both global and tissue-specific knockout mice have demonstrated that SF-1 is required for the development of the adrenal glands, gonads, and ventromedial hypothalamus and for the proper functioning of pituitary gonadotropes. Many genes are transcriptionally regulated by SF-1, and many proteins, in turn, interact with SF-1 and modulate its activity. Whereas mice with heterozygous mutations that disrupt SF-1 function have only subtle abnormalities, humans with heterozygous SF-1 mutations can present with XY sex reversal (i.e. testicular failure), ovarian failure, and occasionally adrenal insufficiency; dysregulation of SF-1 has been linked to diseases such as endometriosis and adrenocortical carcinoma. The current state of knowledge of this important transcription factor will be reviewed with a particular emphasis on the pioneering work on SF-1 by the late Keith Parker.
authors.affiliation: Banting and Best Department of Medical Research, University of Toronto, Toronto, Ontario M5G1L6, Canada.
authors.forename: Bernard P
authors.initials: BP
authors.lastname: Schimmer
authors.forename: Perrin C
authors.initials: PC
authors.lastname: White
mesh_terms: D000818:Animals; D004194:Disease / Q000235:genetics; D006801:Humans; D007031:Hypothalamus / Q000166:cytology / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D010902:Pituitary Gland / Q000166:cytology / Q000378:metabolism; D011485:Protein Binding; D054339:Steroidogenic Factor 1 / Q000235:genetics / Q000378:metabolism* / Q000502:physiology*
chemical_list: D054339:Steroidogenic Factor 1