Evidence map›Paper›PMID 32332764›Full record

ArticleNature communications2020

Transcription-coupled repair and mismatch repair contribute towards preserving genome integrity at mononucleotide repeat tracts.

Ilias Georgakopoulos-Soares, Gene Koh, Sophie E Momen, Josef Jiricny, Martin Hemberg, Serena Nik-Zainal

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–field-weighted citation impact
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

23 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Negative Selection Allows DNA Mismatch Repair-Deficient Mouse FibroblastsbioRxiv : the preprint server for biology · 2024
    Article
  8. Article
  9. Mutation bias and adaptation in bacteria.Microbiology (Reading, England) · 2023
    Review
  10. Review
  11. Strand asymmetries across genomic processes.Computational and structural biotechnology journal · 2023
    Review
  12. Article
  13. Article
  14. Precision targeting tumor cells using cancer-specific InDel mutations with CRISPR-Cas9.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. DNA Mismatch Repair and its Role in Huntington's Disease.Journal of Huntington's disease · 2021
    Review
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

6 authors.

Ilias Georgakopoulos-SoaresWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.
Gene KohWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.ORCID http://orcid.org/0000-0002-3840-4954
Sophie E MomenAcademic Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge, CB2 0QQ, UK.
Josef JiricnyInstitute of Molecular Life Sciences, University of Zurich and Institute of Biochemistry, ETH Zurich, CH-8093, Zurich, Switzerland.
Martin HembergWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK. mh26@sanger.ac.uk.ORCID http://orcid.org/0000-0001-8895-5239
Serena Nik-ZainalAcademic Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge, CB2 0QQ, UK. sn206@cam.ac.uk.ORCID http://orcid.org/0000-0001-5054-1727

Funding

Cancer Research UK 22932Cancer Research UK 23433Cancer Research UK 23916Cancer Research UK 27815Cancer Research UK A23916Cancer Research UK A25274Swiss National Science Foundation 170267Wellcome Trust
6 · The paper itself

Abstract

The mechanisms that underpin how insertions or deletions (indels) become fixed in DNA have primarily been ascribed to replication-related and/or double-strand break (DSB)-related processes. Here, we introduce a method to evaluate indels, orientating them relative to gene transcription. In so doing, we reveal a number of surprising findings: First, there is a transcriptional strand asymmetry in the distribution of mononucleotide repeat tracts in the reference human genome. Second, there is a strong transcriptional strand asymmetry of indels across 2,575 whole genome sequenced human cancers. We suggest that this is due to the activity of transcription-coupled nucleotide excision repair (TC-NER). Furthermore, TC-NER interacts with mismatch repair (MMR) under physiological conditions to produce strand bias. Finally, we show how insertions and deletions differ in their dependencies on these repair pathways. Our analytical approach reveals insights into the contribution of DNA repair towards indel mutagenesis in human cells.

Indexed as

DNA Breaks, Double-StrandedDNA RepairRepetitive Sequences, Nucleic AcidAmino Acid MotifsComputational BiologyDNA Mutational AnalysisDNA ReplicationGene DeletionGene Expression Regulation, NeoplasticGenetic VariationGenome, HumanGenomicsHumansINDEL MutationMutagenesisNeoplasmsPolynucleotides

Identifiers

PMID32332764
PMCPMC7181645

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Registered trials

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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.