ArticleNucleic acids research2011
Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.
Article in Nucleic acids research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- AIRE transcriptional condensates in central tolerance: a multiscale mechanistic perspective.Frontiers in immunology · 2026Review
- The Autoimmune Regulator (AIRE) Gene, The Master Activator of Self-Antigen Expression in the Thymus.Advances in experimental medicine and biology · 2025Review
- Transcript splicing optimizes the thymic self-antigen repertoire to suppress autoimmunity.The Journal of clinical investigation · 2024Article
- Aire in Autoimmunity.Annual review of immunology · 2024Review
- Aire and Fezf2, two regulators in medullary thymic epithelial cells, control autoimmune diseases by regulating TSAs: Partner or complementer?Frontiers in immunology · 2022Review
- AIRE in context: Leveraging chromatin plasticity to trigger ectopic gene expression.Immunological reviews · 2022Review
- P-TEFb as A Promising Therapeutic Target.Molecules (Basel, Switzerland) · 2020Review
- Bromodomain-containing protein 4-independent transcriptional activation by autoimmune regulator (AIRE) and NF-κB.The Journal of biological chemistry · 2018Article
- Twenty Years of AIRE.Frontiers in immunology · 2018Review
- DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.The Journal of biological chemistry · 2017Article
- FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator).The Journal of biological chemistry · 2016Article
- AIRE expands: new roles in immune tolerance and beyond.Nature reviews. Immunology · 2016Review
- Central tolerance to self revealed by the autoimmune regulator.Annals of the New York Academy of Sciences · 2015Review
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.Journal of clinical immunology · 2015Review
- A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Journal of endocrinological investigation · 2014Article
- An RNAi screen for Aire cofactors reveals a role for Hnrnpl in polymerase release and Aire-activated ectopic transcription.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Introduction to cotranscriptional RNA splicing.Methods in molecular biology (Clifton, N.J.) · 2014Article
- Human APECED; a Sick Thymus Syndrome?Frontiers in immunology · 2013Review
- Review
- Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model?Frontiers in immunology · 2013Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
Autoimmune regulator (AIRE) is a transcription factor that induces the expression of a large subset of otherwise strictly tissue restricted antigens in medullary thymic epithelial cells, thereby enabling their presentation to developing T cells for negative selection. Mutations in AIRE lead to autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare monogenetic disease. Although it has been reported that AIRE interacts with proteins involved in nuclear transport, DNA-damage response, chromatin remodeling, transcription and pre-mRNA-splicing, the precise mechanism of AIRE-induced tissue restricted antigen expression has remained elusive. In this study, we investigated an APECED patient mutation that causes the loss of the extreme C-terminus of AIRE and found that this mutant protein is transcriptionaly inactive. When tethered heterologously to DNA, this domain could stimulate transcription and splicing by itself. Moreover, the loss of this C-terminus disrupted interactions with the positive transcription elongation factor b (P-TEFb). Via P-TEFb, AIRE increased levels of RNA polymerase II on and enhanced pre-mRNA splicing of heterologous and endogenous target genes. Indeed, the inhibition of CDK9, the kinase subunit of P-TEFb, inhibited AIRE-induced pre-mRNA splicing of these genes. Thus, AIRE requires P-TEFb to activate transcription elongation and co-transcriptional processing of target genes.
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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.