Cited by 269Adrenal Hormones and DisordersSexual Differentiation and DisordersEstrogen and related hormone effects

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Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease

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Schimmer, Bernard P., White, Perrin C.·2010·Molecular Endocrinology

DOI 10.1210/me.2009-0519PMC PMC5417463

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Abstract

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.

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Orphan Nuclear Receptor Nur77 Induces Zinc Finger Protein GIOT-1 Gene Expression, and GIOT-1 Acts as a Novel Corepressor of Orphan Nuclear Receptor SF-1 via Recruitment of HDAC2
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Authors: Schimmer, B. P., & White, P. C.
Affiliations: University of Toronto (CA)
ORCID: White, Perrin C.
Venue: Molecular Endocrinology
Publisher: The Endocrine Society
Published: 2010-07
Volume: 24
Issue: 7
Pages: 1322-1337
ISSN: 0888-8809 (ISSN-L)
1944-9917
DOI: 10.1210/me.2009-0519
PMC: PMC5417463
OpenAlex: W2039590485
Cited by: 268
References: 176
Citations by year: 2026: 13 · 2025: 14 · 2024: 15 · 2023: 15 · 2022: 12 · 2021: 14 · 2020: 9 · 2019: 14 · 2018: 15 · 2017: 12 · 2016: 14 · 2015: 29 · 2014: 18 · 2013: 17 · 2012: 27
FWCI: 3.31
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Molecular Endocrinology (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Canadian Institutes of Health Research (MOP-64325)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
Keywords: steroidogenic factor 1, orphan nuclear receptor, transcriptional regulation, adrenal development, gonad development, ventromedial hypothalamus, gonadotrophs, XY sex reversal, ovarian failure, adrenal insufficiency, endometriosis, adrenocortical carcinoma, heterozygous mutation
MeSH terms: Animals, Disease, Humans, Hypothalamus, Mutation, Pituitary Gland, Protein Binding, Mice, Knockout, Mice, Steroidogenic Factor 1

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