Evidence map›Paper›PMID 30165384›Full record

ArticleNucleic acids research2018

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Mariangela Sabatella, Arjan F Theil, Cristina Ribeiro-Silva, Jana Slyskova, Karen Thijssen, Chantal Voskamp, Hannes Lans, Wim Vermeulen

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

24 citing papers in PubMed, 38 citations in OpenAlex.

  1. Article
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  12. Deep intronic founder mutations identified in theProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
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  15. Revisiting the Function of p21International journal of molecular sciences · 2022
    Review
  16. Article
  17. XPG: a multitasking genome caretaker.Cellular and molecular life sciences : CMLS · 2022
    Review
  18. Article
  19. Article
  20. ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2.Cellular and molecular life sciences : CMLS · 2020
    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

8 authors at 1 institution in 1 country.

Mariangela SabatellaDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Arjan F TheilDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Cristina Ribeiro-SilvaDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Jana SlyskovaDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Karen ThijssenDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Chantal VoskampDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Hannes LansDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Wim VermeulenDepartment of Molecular Genetics, Erasmus MC, University Erasmus Medical Center Rotterdam, 3000 CA, The Netherlands.
Erasmus MC · NL

Funding

European Research Council 340988
6 · The paper itself

Abstract

The structure-specific ERCC1-XPF endonuclease plays a key role in DNA damage excision by nucleotide excision repair (NER) and interstrand crosslink repair. Mutations in this complex can either cause xeroderma pigmentosum (XP) or XP combined with Cockayne syndrome (XPCS-complex) or Fanconi anemia. However, most patients carry compound heterozygous mutations, which confounds the dissection of the phenotypic consequences for each of the identified XPF alleles. Here, we analyzed the functional impact of individual pathogenic XPF alleles on NER. We show that XP-causing mutations diminish XPF recruitment to DNA damage and only mildly affect global genome NER. In contrast, an XPCS-complex-specific mutation causes persistent recruitment of XPF and the upstream core NER machinery to DNA damage and severely impairs both global genome and transcription-coupled NER. Remarkably, persistence of NER factors at DNA damage appears to be a common feature of XPCS-complex cells, suggesting that this could be a determining factor contributing to the development of additional developmental and/or neurodegenerative features in XP patients.

Indexed as

AllelesCell LineCockayne SyndromeDNA-Binding ProteinsDNA DamageDNA RepairEndonucleasesFanconi AnemiaGenome, HumanHumansMultiprotein ComplexesMutationProtein MultimerizationXeroderma PigmentosumDNA-Binding ProteinsEndonucleasesERCC1 protein, humanMultiprotein Complexesxeroderma pigmentosum group F protein

Identifiers

PMID30165384
PMCPMC6182131
OpenAlexW2889169739

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.