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

Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

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

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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Crossref · 10.1210/me.2009-0519

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  • When the gene conversion extends to the P30L missense mutation, it becomes a simple virilizing (Group B) allele.

    “When the gene conversion extends to the P30L missense mutation (which is usually a Group C, i.e. nonclassic allele; see section III.D), it becomes a simple virilizing (Group B) allele (180).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [180]

    The “Mutations of SF-1” section discusses mutations in NR5A1 and their adrenal and gonadal effects, but does not address a P30L gene conversion or Group B and Group C alleles. Searches for P30L, gene conversion, and simple virilizing alleles found no passage supporting the attributed claim. (LLM, conf=0.76)

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Authors
Schimmer, B. P., & White, P. C.
Affiliations
University of Toronto (CA)
Venue
Molecular Endocrinology
Published
2010-07
Volume
24
Issue
7
Pages
1322-1337
ISSN
  • 0888-8809 (ISSN-L)
  • 1944-9917
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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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