ArticleThe EMBO journal2003
In vivo transposition mediated by V(D)J recombinase in human T lymphocytes.
Article in The EMBO journal, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 97 citations in OpenAlex.
- The newfound relationship between extrachromosomal DNAs and excised signal circles.FEBS letters · 2026Review
- TREC mediated oncogenesis in human immature T lymphoid malignancies preferentially involves ZFP36L2.Molecular cancer · 2023Article
- Gene prediction in the immunoglobulin loci.Genome research · 2022Article
- HIV‑1 integrase inhibitors targeting various DDE transposases: Retroviral integration versus RAG‑mediated recombination (Review).Molecular medicine reports · 2019Review
- The ESC: The Dangerous By-Product of V(D)J Recombination.Frontiers in immunology · 2019Review
- RAG1/2 induces genomic insertions by mobilizing DNA into RAG1/2-independent breaks.The Journal of experimental medicine · 2017Article
- A LAIR1 insertion generates broadly reactive antibodies against malaria variant antigens.Nature · 2016Article
- Site- and allele-specific polycomb dysregulation in T-cell leukaemia.Nature communications · 2015Article
- V(D)J Recombination: Mechanism, Errors, and Fidelity.Microbiology spectrum · 2014Review
- Review
- Role of recombination activating genes in the generation of antigen receptor diversity and beyond.Immunology · 2012Review
- How does DNA break during chromosomal translocations?Nucleic acids research · 2011Review
- Natural history and intragenomic dynamics of the Transib transposon Hztransib in the cotton bollworm Helicoverpa zea.Insect molecular biology · 2011Article
- Early development of non-hodgkin lymphoma following initiation of newer class antiretroviral therapy among HIV-infected patients - implications for immune reconstitution.AIDS research and therapy · 2010Article
- V(D)J recombination: Born to be wild.Seminars in cancer biology · 2010Review
- The origins of the Rag genes--from transposition to V(D)J recombination.Seminars in immunology · 2010Review
- RAG: a recombinase diversified.Nature immunology · 2009Review
- Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition.Nucleic acids research · 2008Article
- Chromosomal reinsertion of broken RSS ends during T cell development.The Journal of experimental medicine · 2007Article
- In vivo reinsertion of excised episomes by the V(D)J recombinase: a potential threat to genomic stability.PLoS biology · 2007Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rearrangement of immunoglobulin (Ig) and T-cell receptor (TCR) genes in lymphocytes by V(D)J recombinase is essential for immunological diversity in humans. These DNA rearrangements involve cleavage by the RAG1 and RAG2 (RAG1/2) recombinase enzymes at recombination signal sequences (RSS). This reaction generates two products, cleaved signal ends and coding ends. Coding ends are ligated by non-homologous end-joining proteins to form a functional Ig or TCR gene product, while the signal ends form a signal joint. In vitro studies have demonstrated that RAG1/2 are capable of mediating the transposition of cleaved signal ends into non-specific sites of a target DNA molecule. However, to date, in vivo transposition of signal ends has not been demonstrated. We present evidence of in vivo inter-chromosomal transposition in humans mediated by V(D)J recombinase. T-cell isolates were shown to contain TCRalpha signal ends from chromosome 14 inserted into the X-linked hypo xanthine-guanine phosphoribosyl transferase locus, resulting in gene inactivation. These findings implicate V(D)J recombinase-mediated transposition as a mutagenic mechanism capable of deleterious genetic rearrangements in humans.
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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.