ArticleScience advances2021
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Ly6d expression delineates two putative postnatal thymus epithelial progenitor cells that are differentially affected by aging.Science advances · 2026Article
- Article
- Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025Review
- Sterile production of interferons in the thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Review
- Generation and repair of thymic epithelial cells.The Journal of experimental medicine · 2024Review
- Age-related epithelial defects limit thymic function and regeneration.Nature immunology · 2024Article
- Article
- Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.ImmunoHorizons · 2024Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Recombinant FOXN1 fusion protein increases T cell generation in old mice.Frontiers in immunology · 2024Article
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome medicine · 2023Article
- Comprehensive phenotypic analysis of diverse FOXN1 variants.The Journal of allergy and clinical immunology · 2023Article
- Combined multidimensional single-cell protein and RNA profiling dissects the cellular and functional heterogeneity of thymic epithelial cells.Nature communications · 2023Article
- Foxn1 overexpression promotes thymic epithelial progenitor cell proliferation and mTEC maintenance, but does not prevent thymic involution.Development (Cambridge, England) · 2023Article
- An Analysis of the Gene Expression Associated with Lymph Node Metastasis in Colorectal Cancer.International journal of genomics · 2023Article
- Decision-Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant.Pediatrics international : official journal of the Japan Pediatric SocietyArticle
Corrections and comments
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Authors and funding
31 authors.
Funding
Abstract
The transcription factor FOXN1 is a master regulator of thymic epithelial cell (TEC) development and function. Here, we demonstrate that FOXN1 expression is differentially regulated during organogenesis and participates in multimolecular nuclear condensates essential for the factor’s transcriptional activity. FOXN1’s C-terminal sequence regulates the diffusion velocity within these aggregates and modulates the binding to proximal gene regulatory regions. These dynamics are altered in a patient with a mutant FOXN1 that is modified in its C-terminal sequence. This mutant is transcriptionally inactive and acts as a dominant negative factor displacing wild-type FOXN1 from condensates and causing athymia and severe lymphopenia in heterozygotes. Expression of the mutated mouse ortholog selectively impairs mouse TEC differentiation, revealing a gene dose dependency for individual TEC subtypes. We have therefore identified the cause for a primary immunodeficiency disease and determined the mechanism by which this FOXN1 gain-of-function mutant mediates its dominant negative effect.
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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.