ArticleThe Journal of experimental medicine2012
Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.
Article in The Journal of experimental medicine, 2012. 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, 51 citations in OpenAlex.
- Germinal center reentries of BCL2-overexpressing B cells drive follicular lymphoma progression.The Journal of clinical investigation · 2014Trial
- Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.BMC immunology · 2025Review
- Orientation Regulation of Class-switch Recombination in Human B Cells.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Cernunnos defect in an Iranian patient with TMolecular genetics & genomic medicine · 2022Review
- Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment-related genotoxicity.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- NovelFrontiers in pediatrics · 2022Article
- Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in aFrontiers in immunology · 2022Article
- Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population.Biomolecules · 2020Article
- Activation-induced cytidine deaminase overexpression in double-hit lymphoma: potential target for novel anticancer therapy.Scientific reports · 2020Article
- Genetics of severe combined immunodeficiency.Genes & diseases · 2020Review
- Mediator of DNA Damage Checkpoint Protein 1 Facilitates V(D)J Recombination in Cells Lacking DNA Repair Factor XLF.Biomolecules · 2019Article
- Genomic and transcriptomic landscapes of Epstein-Barr virus in extranodal natural killer T-cell lymphoma.Leukemia · 2019Article
- Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice.Frontiers in immunology · 2019Article
- Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-senseFrontiers in immunology · 2018Article
- Article
- Combined deletion of Xrcc4 and Trp53 in mouse germinal center B cells leads to novel B cell lymphomas with clonal heterogeneity.Journal of hematology & oncology · 2016Article
- Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF/Cernunnos deficiency.Blood · 2014Article
- Functional overlaps between XLF and the ATM-dependent DNA double strand break response.DNA repair · 2014Review
- A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.The Journal of experimental medicine · 2013Article
- DNA repair genes are selectively mutated in diffuse large B cell lymphomas.The Journal of experimental medicine · 2013Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 6 countries.
Funding
Abstract
Cernunnos is involved in the nonhomologous end-joining (NHEJ) process during DNA double-strand break (DSB) repair. Here, we studied immunoglobulin (Ig) class switch recombination (CSR), a physiological process which relies on proper repair of the DSBs, in B cells from Cernunnos-deficient patients. The pattern of in vivo generated CSR junctions is altered in these cells, with unusually long microhomologies and a lack of direct end-joining. The CSR junctions from Cernunnos-deficient patients largely resemble those from patients lacking DNA ligase IV, Artemis, or ATM, suggesting that these factors are involved in the same end-joining pathway during CSR. By screening 269 mature B cell lymphoma biopsies, we also identified a somatic missense Cernunnos mutation in a diffuse large B cell lymphoma sample. This mutation has a dominant-negative effect on joining of a subset of DNA ends in an in vitro NHEJ assay. Translocations involving both Ig heavy chain loci and clonal-like, dynamic IgA switching activities were observed in this tumor. Collectively, our results suggest a link between defects in the Cernunnos-dependent NHEJ pathway and aberrant CSR or switch translocations during the development of B cell malignancies.
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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.