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PMID: 41000934 已发表 · epublish 英语

L1 insertion intermediates recombine with one another or with DNA breaks to form genome rearrangements.

bioRxiv : the preprint server for biology ·2025-09-18

Mendez-Dorantes C, Kalinowski JC, Law CT, Schofield P, Burn A, Burns KH

摘要

LINE-1 retrotransposition is common in human cancers and rearrangements at insertion sites can contribute to cancer-driving oncogene amplifications and promote genome instability. However, the mechanisms underlying rearrangements of L1 retrotransposition intermediates are poorly understood. To address this gap, we developed GFP-based recombination reporter assays to study the formation of L1 retrotransposition-mediated rearrangements. Using these reporters combined with long-read sequencing approaches, we find that L1 retrotransposition intermediates can recombine with distal DNA breaks to generate chromosomal rearrangements. We also find that two distinct L1 insertion intermediates can recombine with each other to generate chromosomal rearrangements. Both types of rearrangements depend on L1-encoded ORF2p endonuclease and reverse transcriptase activities. Using these reporters, we discover that L1 retrotransposition-mediated rearrangements are robustly induced when the recombining sequences share homology and that their formation requires the homologous recombination factor BRCA1. Given the repetitive nature of our genome, these findings highlight the risk of L1 insertion intermediates becoming substrates for aberrant recombination and promoting genome instability.

关键词
L1 retrotransposons chromosomal rearrangements genome instability homology directed DNA repair
文献信息
期刊
bioRxiv : the preprint server for biology
期刊简称
bioRxiv
ISSN
2692-8205
发表日期
2025-09-18
语言
英语
国家/地区
United States
NLM ID
101680187
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