Evidence map›Paper›PMID 29351848›Full record

ArticleMolecular cell2018

A Distinct Class of Genome Rearrangements Driven by Heterologous Recombination.

Ana María León-Ortiz, Stephanie Panier, Grzegorz Sarek, Jean-Baptiste Vannier, Harshil Patel, Peter J Campbell, Simon J Boulton

Open access · hybridAbstract read
In one paragraph

Article in Molecular cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
8.4field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 43 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Mechanistic origins of diverse genome rearrangements in cancer.Seminars in cell & developmental biology · 2022
    Review
  12. Article
  13. Mechanism of mitotic recombination: insights from C. elegans.Current opinion in genetics & development · 2021
    Review
  14. Article
  15. Article
  16. Article
  17. DNA Homeostasis and Senescence: Lessons from the Naked Mole Rat.International journal of molecular sciences · 2021
    Review
  18. BRCA1 and BRCA2 Tumor Suppressor Function in Meiosis.Frontiers in cell and developmental biology · 2021
    Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Ana María León-OrtizDSB Repair Metabolism Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Stephanie PanierDSB Repair Metabolism Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Grzegorz SarekDSB Repair Metabolism Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Jean-Baptiste VannierTelomere Replication and Stability Group, MRC London Institute of Medical Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, UK.
Harshil PatelBioinformatics and Biostatistics, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Peter J CampbellWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Simon J BoultonDSB Repair Metabolism Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK. Electronic address: simon.boulton@crick.ac.uk.
The Francis Crick Institute · GBImperial College London · GBWellcome Sanger Institute · GB

Funding

Cancer Research UK 11581Cancer Research UK FC0010048Medical Research Council FC0010048Medical Research Council MC_UP_1102/14Wellcome TrustWellcome Trust 077012/Z/05/ZWellcome Trust FC0010048Wellcome Trust WT088340MA
6 · The paper itself

Abstract

Erroneous DNA repair by heterologous recombination (Ht-REC) is a potential threat to genome stability, but evidence supporting its prevalence is lacking. Here we demonstrate that recombination is possible between heterologous sequences and that it is a source of chromosomal alterations in mitotic and meiotic cells. Mechanistically, we find that the RTEL1 and HIM-6/BLM helicases and the BRCA1 homolog BRC-1 counteract Ht-REC in Caenorhabditis elegans, whereas mismatch repair does not. Instead, MSH-2/6 drives Ht-REC events in rtel-1 and brc-1 mutants and excessive crossovers in rtel-1 mutant meioses. Loss of vertebrate Rtel1 also causes a variety of unusually large and complex structural variations, including chromothripsis, breakage-fusion-bridge events, and tandem duplications with distant intra-chromosomal insertions, whose structure are consistent with a role for RTEL1 in preventing Ht-REC during break-induced replication. Our data establish Ht-REC as an unappreciated source of genome instability that underpins a novel class of complex genome rearrangements that likely arise during replication stress.

Indexed as

AnimalsCaenorhabditis elegansCaenorhabditis elegans ProteinsDNA HelicasesDNA Mismatch RepairDNA RepairDNA ReplicationGenomic InstabilityMutationRecombination, GeneticRecQ HelicasesBloom syndrome proteinBRC-1 protein, C elegansCaenorhabditis elegans ProteinsDNA HelicasesHIM-6 protein, C elegansrcq-5 protein, C elegansRecQ Helicases

Identifiers

PMID29351848
PMCPMC5783719
OpenAlexW2784121042

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.