Statistical analysis of repertoire data demonstrates the influence of microhomology in V(D)J recombination

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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Publication Details

Journal
Nucleic Acids Research
Published
2025-03-20
DOI
https://doi.org/10.1093/nar/gkaf250
Primary Topic
Fungal and yeast genetics research
Type
article
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article

Statistical analysis of repertoire data demonstrates the influence of microhomology in V(D)J recombination

Magdalena L Russell, Philip Bradley, F. A. Matsen, Assya Trofimov
Nucleic Acids Research
Fungal and yeast genetics research
article

Statistical analysis of repertoire data demonstrates the influence of microhomology in V(D)J recombination

Magdalena L Russell, Philip Bradley, F. A. Matsen, Assya Trofimov
article en

Abstract

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.

Nucleic Acids ResearchVol. 53(6)
Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa (ZA), Howard Hughes Medical Institute (US), University of Washington (US), Fred Hutch Cancer Center (US), University of Washington Applied Physics Laboratory (US), Protein Research Foundation (JP)
Openalex Percentile: Top 94%
Fungal and yeast genetics research
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