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免疫组库数据的统计分析证明了微同源性在V(D)J重组中的影响。

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

作者信息

Russell Magdalena L, Trofimov Assya, Bradley Philip, Matsen Iv Frederick A

机构信息

Computational Biology Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, United States.

Molecular and Cellular Biology Program, University of Washington, Seattle, WA 98195, United States.

出版信息

Nucleic Acids Res. 2025 Mar 20;53(6). doi: 10.1093/nar/gkaf250.

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.

摘要

V(D)J重组产生了识别多种抗原所必需的多样化B细胞和T细胞受体。这种多样性源于V(D)J基因的组合组装以及核苷酸的连接缺失和插入。虽然先前的体外研究表明,基因末端之间的微同源性(短序列同源性片段)会影响重组过程,但微同源性在体内尤其是在人类体内的影响程度仍不清楚。在本文中,我们利用对先前发表的高通量TCRα库测序数据的统计推断,评估种系编码的微同源性如何影响V(D)J重组过程中的修剪和连接。我们发现微同源性增加了修剪和连接的概率,使其成为重组结果的重要预测指标。这些效应在其他受体基因座和序列类型中是一致的。此外,我们证明,考虑种系微同源性效应会显著改变序列注释概率和排名,突出了其在准确推断产生观察到的序列的V(D)J重组事件方面的实际重要性。总之,这些结果加深了我们对种系编码的微同源核苷酸如何塑造人类V(D)J重组过程的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82ae/11963759/d992aa78ff30/gkaf250figgra1.jpg

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