Abstract
Studies in knockout mice have established that the orphan nuclear receptor steroidogenic factor 1 (SF-1) plays essential roles in the development and function of the primary steroidogenic organs. These SF-1 knockout mice lacked adrenal glands and gonads, causing adrenocortical insufficiency and sex reversal of their internal and external genitalia. They also had impaired expression of pituitary gonadotropins and agenesis of the ventromedial hypothalamic nucleus (VMH), confirming roles of SF-1 at all three levels of the hypothalamic-pituitary-steroidogenic organ axis. Ongoing experiments are directed at developing methods to inactivate SF-1 in a tissue-specific manner.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adrenal Glands / embryology
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Adrenal Glands / physiology
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Adrenal Insufficiency / etiology
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Animals
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DNA-Binding Proteins / analysis
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / physiology*
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Disorders of Sex Development
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Embryonic and Fetal Development
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Female
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Fushi Tarazu Transcription Factors
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Gene Expression
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Gestational Age
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Gonadotropins, Pituitary / genetics
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Homeodomain Proteins
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Humans
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Hypothalamus, Middle / abnormalities
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In Situ Hybridization
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Male
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Mice
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Mice, Knockout
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Ovary / chemistry
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Ovary / embryology
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Receptors, Cytoplasmic and Nuclear
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Steroidogenic Factor 1
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Steroids / biosynthesis*
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Testis / chemistry
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Testis / embryology
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Transcription Factors / analysis
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Transcription Factors / genetics
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Transcription Factors / physiology*
Substances
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DNA-Binding Proteins
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Fushi Tarazu Transcription Factors
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Gonadotropins, Pituitary
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Homeodomain Proteins
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NR5A1 protein, human
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Receptors, Cytoplasmic and Nuclear
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Steroidogenic Factor 1
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Steroids
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Transcription Factors
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steroidogenic factor 1, mouse