ArticleThe Journal of experimental medicine2020
A super enhancer controls expression and chromatin architecture within the MHC class II locus.
Article in The Journal of experimental medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 32 citations in OpenAlex.
- Selective control of HLA-DRB1 and HLA-DQA1 transcription through DR/DQ super enhancer microelements.Cell reports · 2026Article
- The effect of cohesin mutations on HLA-class II expression in the myeloid leukemia of Down syndrome.Leukemia · 2026Article
- Identification of a type 1 diabetes-associated T cell receptor repertoire signature from the human peripheral blood.Science advances · 2026Article
- Stem cell revolution: bridging the gap between research and clinical application.Stem cell research & therapy · 2025Review
- Decoding MHC loss: Molecular mechanisms and implications for immune resistance in cancer.Clinical and translational medicine · 2025Review
- MHCII reduction is insufficient to protect mice from alpha-synuclein-induced degeneration and the Parkinson's HLA locus exhibits epigenetic regulation.Scientific reports · 2025Article
- Two DRB3 residues predictively associate with the progression to type 1 diabetes among DR3 carriers.JCI insight · 2025Article
- Super-enhancers in immune system regulation: mechanisms, pathological reprogramming, and therapeutic opportunities.Frontiers in immunology · 2025Review
- Downregulating human leucocyte antigens on mesenchymal stromal cells by epigenetically repressing a βNature biomedical engineering · 2024Article
- Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.Nature reviews. Rheumatology · 2024Review
- The BET PROTAC inhibitor GNE-987 displays anti-tumor effects by targeting super-enhancers regulated gene in osteosarcoma.BMC cancer · 2024Article
- Lupus Nephritis in Children: Novel Perspectives.Medicina (Kaunas, Lithuania) · 2023Review
- Review
- Article
- Capturing 3D Chromatin Maps of Human Primary Monocytes: Insights From High-Resolution Hi-C.Frontiers in immunology · 2022Article
- Effect of Gliadin Stimulation on HLA-DQ2.5 Gene Expression in Macrophages from Adult Celiac Disease Patients.Biomedicines · 2021Article
- Biomedical Data Commons (BMDC) prioritizes B-lymphocyte non-coding genetic variants in Type 1 Diabetes.PLoS computational biology · 2021Article
- Epigenetic gene regulation in plasma cells.Immunological reviews · 2021Review
- The Murine MHC Class II Super EnhancerJournal of immunology (Baltimore, Md. : 1950) · 2021Article
- Roadmap to a plasma cell: Epigenetic and transcriptional cues that guide B cell differentiation.Immunological reviews · 2021Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Super enhancers (SEs) play critical roles in cell type-specific gene regulation. The mechanisms by which such elements work are largely unknown. Two SEs termed DR/DQ-SE and XL9-SE are situated within the human MHC class II locus between the HLA-DRB1 and HLA-DQA1 genes and are highly enriched for disease-causing SNPs. To test the function of these elements, we used CRISPR/Cas9 to generate a series of mutants that deleted the SE. Deletion of DR/DQ-SE resulted in reduced expression of HLA-DRB1 and HLA-DQA1 genes. The SEs were found to interact with each other and the promoters of HLA-DRB1 and HLA-DQA1. DR/DQ-SE also interacted with neighboring CTCF binding sites. Importantly, deletion of DR/DQ-SE reduced the local chromatin interactions, implying that it functions as the organizer for the local three-dimensional architecture. These data provide direct mechanisms by which an MHC-II SE contributes to expression of the locus and suggest how variation in these SEs may contribute to human disease and altered immunity.
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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.