title: The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
abstract: 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.
authors.affiliation: Division of Endocrinology, Metabolism, and Molecular Medicine, The Feinberg School of Medicine, Northwestern University, Chicago, IL 60611-3008, USA.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Ozisik
authors.forename: John C
authors.initials: JC
authors.lastname: Achermann
authors.forename: J Larry
authors.initials: JL
authors.lastname: Jameson
mesh_terms: D000307:Adrenal Gland Diseases / Q000235:genetics; D000311:Adrenal Glands / Q000502:physiology*; D000818:Animals; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*; D012734:Disorders of Sex Development; D005260:Female; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D018160:Receptors, Cytoplasmic and Nuclear; D012098:Reproduction / Q000502:physiology*; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*
chemical_list: D004268:DNA-Binding Proteins; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; C515058:steroidogenic factor 1, mouse