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Article

DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.

The Journal of biological chemistry - 21 Apr 2017

Guha Mithu, Saare Mario, Maslovskaja Julia, Kisand Kai, Liiv Ingrid, Haljasorg Uku, Tasa Tõnis, Metspalu Andres, Milani Lili, Peterson Pärt

Abstract excerpt

The autoimmune regulator (AIRE) protein is the key factor in thymic negative selection of autoreactive T cells by promoting the ectopic expression of tissue-specific genes in the thymic medullary epithelium. Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. AIRE has been shown to promote DNA breaks via its interaction with topoisomerase 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28242760
DOI: 10.1074/jbc.M116.764704
PMCID: PMC5399106

Genes

AIRE
HMGB1
TOP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.PMID 28242760Read ↗

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Characterization of Regulatory Elements and Methylation Pattern of the Autoimmune Regulator (AIRE) PromoterSemantic proximity Read ↗

Distinct mutations in the autoimmune regulator gene differentially affect transcriptional and functional properties of medullary thymic epithelial cells.Semantic proximity Read ↗

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.Semantic proximity Read ↗

AIRE in context: Leveraging chromatin plasticity to trigger ectopic gene expression*Semantic proximity Read ↗

AIRE activated tissue specific genes have histone modifications associated with inactive chromatinSemantic proximity Read ↗

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

Brd4 bridges the transcriptional regulators, Aire and P-TEFb, to promote elongation of peripheral-tissue antigen transcripts in thymic stromal cells.Semantic proximity Read ↗

Normal Thymic Architecture and Negative Selection Are Associated with <i>Aire</i> Expression, the Gene Defective in the Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)Semantic proximity Read ↗

AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.Semantic proximity Read ↗

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