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V(D)J recombination generates the diverse B and T cell receptors essential for recognizing a wide array of antigens. This diversity arises from the combinatorial assembly of V(D)J genes and the junctional deletion and insertion of nucleotides. While previous in vitro studies have shown that microhomology-short stretches of sequence homology between gene ends-can bias the recombination process, the extent of microhomology's impact in vivo, particularly in humans, remains unknown. In this paper, we assess how germline-encoded microhomology influences trimming and ligation during V(D)J recombination using statistical inference on previously published high-throughput TCRα repertoire sequencing data. We find that microhomology increases both trimming and ligation probabilities, making it an important predictor of recombination outcomes. These effects are consistent across other receptor loci and sequence types. Further, we demonstrate that accounting for germline microhomology effects significantly alters sequence annotation probabilities and rankings, highlighting its practical importance for accurately inferring the V(D)J recombination events that generated an observed sequence. Together, these results enhance our understanding of how germline-encoded microhomologous nucleotides shape the human V(D)J recombination process.
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http://dx.doi.org/10.1093/nar/gkaf250 | DOI Listing |
Immunol Invest
September 2025
Scientific Research Department, The Second Affiliated Hospital of Guilin Medical University, Guilin, China.
Autoimmune diseases (AIDs) constitute a group of disorders where the immune system mistakenly attacks the body's tissues. The pathogenesis of AIDs involve a breakdown in immune tolerance, culminating in an immune response that targets autoantigens. In adaptive immunity, secondary rearrangement of T cell receptors (TCRs) and B cell receptors (BCRs) involves sequential V(D)J recombination events during lymphocyte development.
View Article and Find Full Text PDFEMBO J
September 2025
The Babraham Institute, Cambridge, CB22 3AT, UK.
The diversity of antibodies underpins robust immune responses. During the formation of the antibody repertoire in early bone marrow B-cells, random antibody heavy-chain proteins are generated from recombined VH, DH, and JH gene segments. Many are non-functional and are negatively selected.
View Article and Find Full Text PDFDNA Repair (Amst)
August 2025
Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Laboratory of Genome Diversification & Integrity, Berlin, Germany; Charité-Universitätsmedizin Berlin, Berlin 10117, Germany. Electronic address:
The ability of B lymphocytes to diversify immunoglobulin (Ig) genes is central to the generation of high-affinity, class-switched antibodies and the establishment of effective humoral immunity. This diversification is achieved through three DNA remodeling processes that occur at defined stages of B cell development and maturation: V(D)J recombination, somatic hypermutation (SHM), and class switch recombination (CSR). These reactions all rely on the induction of programmed DNA lesions at Ig genes and their productive resolution by ubiquitous DNA repair pathways.
View Article and Find Full Text PDFJ Immunol
August 2025
Department of Medical Microbiology and Immunology, Creighton University, Omaha, NE, United States.
V(D)J recombination is constrained by timely degradation of the RAG1 and RAG2 proteins through distinct mechanisms. Previously, we showed that full-length RAG1 stability is regulated by viral protein R binding protein (VprBP) through its association with an amino-terminal region in RAG1, but the mechanism remains unclear. As an unbiased approach to uncover potential cofactors involved in the process, we compared protein interactomes between RAG1/RAG2 complexes formed when the amino-terminal third of RAG1 was present or absent.
View Article and Find Full Text PDFFront Immunol
August 2025
Laboratorio de Ciencias Clínicas, Departamento de Ciencias de la Salud, Centro Universitario de los Valles, Universidad de Guadalajara, Ameca, Jalisco, Mexico.
B lymphocytes are essential elements of the adaptive immune response, performing critical functions such as antigen presentation, cytokine secretion, and antibody production. Their development follows a tightly regulated progression from hematopoietic stem cells to differentiated plasma or memory cells, orchestraeted by key transcriptional factors including , and These factors govern gene expression essential for processes such as V(D)J recombination, somatic hypermutation, and immunoglobulin class switching-ensuring proper lineage commitment and the maintenance of immunological tolerance. Dysregulation of these pathways, whether through genetic or epigenetic alterations or chronic inflammatory stimuli, can result in autoimmunity, persistent inflammation, or B cell malignancies.
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