Cited by 305Sexual Differentiation and DisordersAdrenal Hormones and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

Achermann, John C., Ozisik, Gokhan, Ito, Masafumi, Orun, Utku A., Harmanci, Koray, Gurakan, Berkan, Jameson, J. Larry·2002·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jcem.87.4.8376

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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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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
ORCID: Achermann, John C.
Ito, Masafumi
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
DOI: 10.1210/jcem.87.4.8376
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: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

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