ArticleThe Journal of experimental medicine1994
Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence.
Article in The Journal of experimental medicine, 1994. 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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Who cites it
22 citing papers in PubMed, 79 citations in OpenAlex.
- A multi-ethnic reference map of T cell receptor germline diversity reveals evidence of natural selection on alpha chain genes.Nature communications · 2026Article
- Enhancers within the Ig V Gene Region Orchestrate Chromatin Topology and Regulate V Gene Rearrangement Frequency to Shape the B Cell Receptor Repertoire Specificities.Journal of immunology (Baltimore, Md. : 1950) · 2023Article
- No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).Translational psychiatry · 2022Article
- Cracking the DNA Code for V(D)J Recombination.Molecular cell · 2018Article
- The expression of molecule CD28 and CD38 on CD4⁺/CD8⁺ T lymphocytes in thymus and spleen elicited by Schistosoma japonicum infection in mice model.Parasitology research · 2015Article
- The shape of the lymphocyte receptor repertoire: lessons from the B cell receptor.Frontiers in immunology · 2013Review
- Unifying model for molecular determinants of the preselection Vβ repertoire.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Structural features underlying T-cell receptor sensitivity to concealed MHC class I micropolymorphisms.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Naive antibody gene-segment frequencies are heritable and unaltered by chronic lymphocyte ablation.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Assembled DJ beta complexes influence TCR beta chain selection and peripheral V beta repertoire.Journal of immunology (Baltimore, Md. : 1950) · 2009Article
- Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.Human genetics · 2006Article
- Evolution of the variable gene segments and recombination signal sequences of the human T-cell receptor alpha/delta locus.Immunogenetics · 2004Article
- Evolutionarily conserved pattern of gene segment usage within the mammalian TCRbeta locus.Immunogenetics · 2003Article
- Diagnostic role of tests for T cell receptor (TCR) genes.Journal of clinical pathology · 2003Review
- Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus.American journal of human genetics · 2001Article
- Prevalence of an ulcerative colitis-associated CD8+ T cell receptor beta-chain CDR3-region motif and its association with disease activity.Journal of clinical immunology · 2001Article
- T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome.Clinical and experimental immunology · 2000Article
- Abnormal T cell receptor V gene usage in myasthenia gravis: prevalence and characterization of expanded T cell populations.Clinical and experimental immunology · 1998Article
- Sequence of the spacer in the recombination signal sequence affects V(D)J rearrangement frequency and correlates with nonrandom Vkappa usage in vivo.The Journal of experimental medicine · 1998Article
- Genetic control of T cell receptor BJ gene expression in peripheral lymphocytes of normal and rheumatoid arthritis monozygotic twins.The Journal of clinical investigation · 1996Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
One of the causes of variations in the expressed human T cell receptor (TCR) BV (V beta) repertoire is genetic variation in the germline DNA. Herein evidence is provided that allelic polymorphism may affect recombination frequency for a specific V gene. Two alleles of the TCR BV3 differ only at a single nucleotide position (C/T) within the 23-bp spacer region of the recombination signal sequence. These alleles are associated with variable percentages of BV3 cells in the peripheral blood, as shown in families and in unrelated normal donors. Individuals homozygous for allele 2 have a mean of 8.1% BV3 cells, heterozygous individuals have a mean of 4.7% BV3 cells, and homozygotes for allele 1 have a mean of 1.2% BV3 cells in CD3+ CD4+ peripheral blood T cells. Since the correlation is tight in unrelated individuals and other genetic differences were not found in the vicinity of BV3, we suggest that the spacer region sequence itself modifies recombination efficiency. This allelic system provides an example of a novel mechanism by which cis-acting genetic elements may affect recombination in a natural in vivo system.
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