Journal
MOLECULAR GENETICS AND METABOLISM
Volume 76, Issue 2, Pages 85-91Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/S1096-7192(02)00032-X
Keywords
steroidogenic factor 1; adrenal cortex; sex-reversal; gonad; gonadotropins
Funding
- NCRR NIH HHS [M01-RR-00048] Funding Source: Medline
- NICHD NIH HHS [U54-HD-29164, P01 HD-21921] Funding Source: Medline
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Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the human genome. It regulates the transcription of many genes involved in gonadal development, sexual differentiation, steroidogenesis and reproduction. Recently. mutations in the gene encoding SF1 have been identified in several patients with primary adrenal failure and 46,XY sex-reversal. Interpreting the consequences of these mutations provides further understanding of transcription factor haploinsufficiency in human genetic disease as well as the exquisite sensitivity of humans to gene-dosage effects during adrenal and gonadal development. (C) 2002 Elsevier Science (USA). All rights reserved.
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