| First Author | Schimmer BP | Year | 2010 |
| Journal | Mol Endocrinol | Volume | 24 |
| Issue | 7 | Pages | 1322-37 |
| PubMed ID | 20203099 | Mgi Jnum | J:162268 |
| Mgi Id | MGI:4818533 | Doi | 10.1210/me.2009-0519 |
| Citation | Schimmer BP, et al. (2010) Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease. Mol Endocrinol 24(7):1322-37 |
| abstractText | 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. |
