ArticleThe Journal of clinical investigation2014
Testicular differentiation factor SF-1 is required for human spleen development.
Article in The Journal of clinical investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 49 citations in OpenAlex.
- Compartment-specific regulation of stromal differentiation of the spleen in health and disease.Genes and immunity · 2026Review
- Steroidogenic Factor 1 (SF1) Immunohistochemical Stain Is Sensitive and Specific for the Cytopathologic Identification of Intrapancreatic Ectopic Splenic Tissue.Diagnostic cytopathology · 2026Article
- Article
- Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.Endocrine connections · 2025Article
- Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With NovelJCEM case reports · 2025Article
- In-depth investigation of genome to refine QTL positions for spontaneous sex-reversal in XX rainbow trout.PloS one · 2025Article
- An organotypic atlas of human vascular cells.Nature medicine · 2024Article
- Population-Based Study of Rare Coding Variants inJournal of the Endocrine Society · 2024Article
- Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.EBioMedicine · 2024Article
- Early Gonadal Development and Sex Determination in Mammal.International journal of molecular sciences · 2022Review
- Unraveling epigenomic abnormality in azoospermic human males by WGBS, RNA-Seq, and transcriptome profiling analyses.Journal of assisted reproduction and genetics · 2020Article
- Caring for individuals with a difference of sex development (DSD): a Consensus Statement.Nature reviews. Endocrinology · 2018Review
- B-1a Cell Development in Splenectomized Neonatal Mice.Frontiers in immunology · 2018Article
- Article
- Transcription factor TLX1 controls retinoic acid signaling to ensure spleen development.The Journal of clinical investigation · 2016Article
- Nuclear hormone receptors put immunity on sterols.European journal of immunology · 2015Review
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Best practice & research. Clinical endocrinology & metabolism · 2015Review
- NR5A1 and cell population heterogeneity: Insights into developmental and functional disparities and regulatory mechanisms.Reproductive medicine and biologyReview
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia. The R103Q mutation decreased SF-1 transactivation of TLX1, a transcription factor that has been shown to be essential for murine spleen development. Additionally, the SF1 R103Q mutation impaired activation of steroidogenic genes, without affecting synergistic SF-1 and sex-determining region Y (SRY) coactivation of the testis development gene SOX9. Together, our data provide evidence that SF-1 is required for spleen development in humans via transactivation of TLX1 and that mutations that only impair steroidogenesis, without altering the SF1/SRY transactivation of SOX9, can lead to 46,XY-DSD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.