ArticleNucleic acids research2012
AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.
Article in Nucleic acids research, 2012. 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, 43 citations in OpenAlex.
- The Autoimmune Regulator (AIRE) Gene, The Master Activator of Self-Antigen Expression in the Thymus.Advances in experimental medicine and biology · 2025Review
- Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.BMC medical genomics · 2024Article
- Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.Advances in experimental medicine and biology · 2024Article
- Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.iScience · 2023Article
- Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation.The Journal of experimental medicine · 2021Article
- GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.Nature communications · 2021Article
- Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Frontiers in immunology · 2021Review
- The Speckled Protein (SP) Family: Immunity's Chromatin Readers.Trends in immunology · 2020Review
- Article
- 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
- Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.Nucleic acids research · 2016Article
- AIRE expands: new roles in immune tolerance and beyond.Nature reviews. Immunology · 2016Review
- Novel Findings into AIRE Genetics and Functioning: Clinical Implications.Frontiers in pediatrics · 2016Review
- Aire controls gene expression in the thymic epithelium with ordered stochasticity.Nature immunology · 2015Article
- Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes.Nature genetics · 2015Article
- Sirt-ainly Aire.Nature immunology · 2015Article
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.Journal of clinical immunology · 2015Review
- Population and single-cell genomics reveal the Aire dependency, relief from Polycomb silencing, and distribution of self-antigen expression in thymic epithelia.Genome research · 2014Article
- A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Journal of endocrinological investigation · 2014Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in autoimmune regulator (AIRE) gene cause autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. AIRE is expressed in thymic medullary epithelial cells, where it promotes the expression of peripheral-tissue antigens to mediate deletional tolerance, thereby preventing self-reactivity. AIRE contains two plant homeodomains (PHDs) which are sites of pathological mutations. AIRE-PHD fingers are important for AIRE transcriptional activity and presumably play a crucial role in the formation of multimeric protein complexes at chromatin level which ultimately control immunological tolerance. As a step forward the understanding of AIRE-PHD fingers in normal and pathological conditions, we investigated their structure and used a proteomic SILAC approach to assess the impact of patient mutations targeting AIRE-PHD fingers. Importantly, both AIRE-PHD fingers are structurally independent and mutually non-interacting domains. In contrast to D297A and V301M on AIRE-PHD1, the C446G mutation on AIRE-PHD2 destroys the structural fold, thus causing aberrant AIRE localization and reduction of AIRE target genes activation. Moreover, mutations targeting AIRE-PHD1 affect the formation of a multimeric protein complex at chromatin level. Overall our results reveal the importance of AIRE-PHD domains in the interaction with chromatin-associated nuclear partners and gene regulation confirming the role of PHD fingers as versatile protein interaction hubs for multiple binding events.
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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.