Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease

摘要: 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 cytochrome P450 steroid hydroxylases, studies both global knockout mice have demonstrated that SF-1 required for adrenal glands, gonads, ventromedial hypothalamus proper functioning pituitary gonadotropes. Many genes are transcriptionally regulated SF-1, many proteins, in turn, interact with modulate its activity. Whereas heterozygous mutations disrupt function only subtle abnormalities, humans can present XY sex reversal (i.e. testicular failure), ovarian failure, occasionally insufficiency; dysregulation has been linked to diseases such endometriosis adrenocortical carcinoma. current state knowledge this important transcription will be reviewed particular emphasis on pioneering work late Keith Parker.