Evidence map›Paper›PMID 42669685›Full record

ArticleNature communications2026

LINE-1 insertion intermediates recombine with one another or with DNA breaks to form genome rearrangements.

Carlos Mendez-Dorantes, Jupiter C Kalinowski, Aidan Burn, Phillip Schofield, Cheuk-Ting Law, Esin Isik, Kathleen H Burns

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Carlos Mendez-DorantesDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA. carlos_mendez-dorantes@dfci.harvard.edu.ORCID 0000-0002-8190-8568
Jupiter C KalinowskiDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0001-8673-4950
Aidan BurnDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0001-8162-3389
Phillip SchofieldDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID 0000-0002-9318-2725
Cheuk-Ting LawDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.
Esin IsikDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.
Kathleen H BurnsDepartment of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA. kathleenh_burns@dfci.harvard.edu.ORCID 0000-0003-1620-3761

Funding

Consequences of retrotransposition on genome integrityR01CA276112 · NCI · DANA-FARBER CANCER INST · PI KATHLEEN H BURNS, Alice Eunjung Lee · 2023 to 2026
$2.9M
Characterizing the LINE-1 Retrotransposition-Replication ConflictR01CA240816 · NCI · DANA-FARBER CANCER INST · PI BURNS, KATHLEEN H · 2020 to 2024
$2.0M
Immunological consequences of LINE-1 expression in cancerR01CA289390 · NCI · GEORGE WASHINGTON UNIVERSITY · PI KATHLEEN H BURNS, Katherine B Chiappinelli · 2024 to 2026
$1.9M
Single Molecule Detection of L1 Insertions and IntermediatesUG3NS132127 · NINDS · DANA-FARBER CANCER INST · PI BERNSTEIN, BRADLEY EVAN, BURNS, KATHLEEN H · 2023 to 2024
$879k
NCI NIH HHS R01 CA240816NCI NIH HHS R01 CA276112NCI NIH HHS R01 CA289390NINDS NIH HHS UG3 NS132127U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA240816U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA276112U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01CA289390U.S. Department of Health & Human Services | National Institutes of Health (NIH) UG3NS132127
6 · The paper itself

Abstract

LINE-1 (L1) 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, we find that L1 retrotransposition cDNA intermediates can recombine with distal DNA breaks to generate chromosomal rearrangements. We also find that two independent L1 insertion cDNA intermediates on distinct genomic loci 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 extensive homology and that their formation requires the homologous recombination factor BRCA1. In contrast, we find L1 retrotransposition-mediated rearrangements are suppressed by the mismatch repair factor MSH2 when the recombining sequences contain mismatches. 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.

Indexed as

DNA BreaksGene RearrangementLong Interspersed Nucleotide ElementsRecombination, GeneticGenomic InstabilityHumansMutagenesis, Insertional

Identifiers

PMID42669685
PMCPMC13526784

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.