Abstract
The orphan nuclear receptor steroidogenic factor 1 (SF-1) plays key roles in endocrine development and function. Initially identified as a positive regulator of the cytochrome P450 steroid hydroxylases, analyses of knockout mice deficient in SF-1 revealed that SF-1 is essential for adrenal and gonadal development, pituitary gonadotropin expression and formation of the ventromedial hypothalamic nucleus. Although more limited in scope, analyses of SF-1 in humans similarly have suggested that SF-1 is important for differentiated function in adrenocortical and gonadotrope adenomas. In the hope of extending our understanding of SF-1 function by identifying possible roles of SF-1 in clinical endocrine disorders, we isolated the FTZ-F1 gene encoding human SF-1 and mapped it to chromosome 9q33. In this report, we characterize the sequence and structural organization of the human cDNA and gene encoding SF-1, providing new insights into comparative aspects of SF-1 structure that will facilitate efforts to study the role of this transcription factor in human endocrine disorders.
Publication types
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Comparative Study
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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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Amino Acid Sequence
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Animals
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Base Sequence
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Cattle
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Cloning, Molecular
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Conserved Sequence
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DNA Primers
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DNA, Complementary
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DNA-Binding Proteins / biosynthesis*
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DNA-Binding Proteins / chemistry
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DNA-Binding Proteins / genetics*
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Female
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Fushi Tarazu Transcription Factors
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Genomic Library
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Homeodomain Proteins
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Humans
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Mice
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Mice, Knockout
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Molecular Sequence Data
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Placenta / metabolism
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Polymerase Chain Reaction
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Pregnancy
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Rats
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Receptors, Cytoplasmic and Nuclear
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Recombinant Proteins / biosynthesis
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Recombinant Proteins / chemistry
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Steroidogenic Factor 1
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Transcription Factors / biosynthesis*
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Transcription Factors / chemistry
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Transcription Factors / genetics*
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Transcription, Genetic
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Zinc Fingers
Substances
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DNA Primers
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DNA, Complementary
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DNA-Binding Proteins
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Fushi Tarazu Transcription Factors
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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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Recombinant Proteins
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Steroidogenic Factor 1
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Transcription Factors
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steroidogenic factor 1, mouse
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steroidogenic factor 1, rat