Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
Abstract
The orphan nuclear receptor steroidogenic factor-1 (SF-1, NR5A1) regulates the transcription of multiple genes involved in steroidogenesis, reproduction, and male sexual differentiation. A heterozygous loss-of-function SF-1 mutation (G35E) has been described in a patient with adrenal failure and complete 46XY sex-reversal, indicating that haploinsufficiency of this factor is sufficient to cause a severe clinical phenotype. This mutation in the P-box region of the DNA-binding domain markedly impairs SF-1 binding to most response elements. In an infant with a similar clinical phenotype, we identified an SF-1 mutation (R92Q) in a highly conserved residue of the A-box, a region that functions as a secondary DNA-binding domain. Strikingly, the affected infant was homozygous for the R92Q mutation, but three relatives (parents, sister) were phenotypically normal despite being heterozygous for the mutation. In functional assays, the R92Q mutant exhibited partial loss of DNA binding and transcriptional activity when compared with the G35E P-box change, consistent with its phenotypic expression only when transmitted as a homozygous trait. Taken together, these two naturally-occurring SF-1 mutations reveal the relative functional importance of the P-box and A-box regions for monomeric binding by nuclear receptors. In addition, these patients reveal the exquisite sensitivity of SF-1-dependent developmental pathways to gene dosage and function in humans.
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Heterozygous or homozygous mutations in SF1 (NR5A1) have been reported in 46,XY phenotypic females with primary adrenal failure, and a heterozygous SF1 mutation has been described in a 46,XX girl with adrenal dysfunction.
“Heterozygous or homozygous mutations in SF1 (NR5A1) have been reported in 46,XY phenotypic females with either spontaneous or recessively inherited primary adrenal failure, and a heterozygous SF1 mutation has been described in a 46,XX girl with adrenal dysfunction (615-617).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [617]
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- Authors
- Achermann, J. C., Ozisik, G., Ito, M., Orun, U. A., Harmanci, K., Gurakan, B., & Jameson, J. L.
- Affiliations
- Northwestern University (US)
- Division of Endocrinology, Metabolism, and Molecular Medicine (J.C.A., G.O., M.I., J.L.J.), Northwestern University Medical School, Chicago, Illinois 60611
- Department of Pediatrics (U.A.O., K.H., B.G.), Baskent University Medical School, Ankara 06510, Turkey
- Corresponding author
- Jameson, J. Larry
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2002-04-01
- Volume
- 87
- Issue
- 4
- Pages
- 1829-1833
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2035838105
- Cited by
- 305
- References
- 22
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 7 · 2023: 16 · 2022: 5 · 2021: 2 · 2020: 6 · 2019: 5 · 2018: 12 · 2017: 12 · 2016: 17 · 2015: 17 · 2014: 15 · 2013: 15 · 2012: 19
- FWCI
- 6.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Center for Research Resources (M01 RR00048, M01RR000048)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD29164, P01HD021921, U54HD029164, P01HD21921)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- steroidogenic factor 1, orphan nuclear receptor, adrenal development, 46,XY sex reversal, adrenal insufficiency, haploinsufficiency, loss-of-function mutations, DNA-binding domain, p-boxes, A-box, gene dosage, male sexual differentiation, steroidogenesis
- MeSH terms
- Adrenal Glands, Amino Acid Sequence, Base Sequence, DNA Mutational Analysis, DNA-Binding Proteins, Female, Embryonic and Fetal Development, Homozygote, Humans, Infant, Newborn, Mutation, Pedigree, Sex Differentiation, Transcription Factors, Receptors, Cytoplasmic and Nuclear, Homeodomain Proteins, Gene Dosage, Fushi Tarazu Transcription Factors, Steroidogenic Factor 1
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