Evidence map›Paper›PMID 26595769›Full record

ArticleNature genetics2016

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Margaret E Harley, Olga Murina, Andrea Leitch, Martin R Higgs, Louise S Bicknell, Gökhan Yigit, Andrew N Blackford, Anastasia Zlatanou, Karen J Mackenzie, Kaalak Reddy and 20 more

Open access · bronzeAbstract read
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed
4.1field-weighted citation impact, top 5% 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

59 citing papers in PubMed, 97 citations in OpenAlex.

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  20. A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022
    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

30 authors at 11 institutions in 5 countries.

Margaret E Harley *MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Olga Murina *MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Andrea LeitchMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Martin R HiggsInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Louise S BicknellMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Gökhan YigitInstitute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Andrew N BlackfordThe Gurdon Institute, University of Cambridge, Cambridge, CB2 1QN, UK.
Anastasia ZlatanouInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Karen J MackenzieMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Kaalak ReddyMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Mihail HalachevMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Sarah McGlassonMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Martin A M ReijnsMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Adeline FluteauMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Carol-Anne MartinMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Simone SabbionedaIstituto di Genetica Molecolare, CNR, 27100 Pavia, Italy.
Nursel H ElciogluDepartment of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Janine AltmüllerInstitute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
Lynn GreenhalghCheshire and Merseyside Clinical Genetics Service, Liverpool Women's Hospital, Liverpool, L12 2AP, UK.
Luciana ChessaDepartment of Clinical and Molecular Medicine, University Sapienza, A.O.S. Andrea, I-00189 Roma, Italy.
Mohamad MaghnieDepartment of Pediatrics, IRCCS, Giannina Gaslini, University of Genova, 16147 Genova, Italy.
Mahmoud SalimDepartment of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Michael B BoberNemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
Peter NürnbergCenter for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
Stephen P JacksonThe Gurdon Institute, University of Cambridge, Cambridge, CB2 1QN, UK.
Matthew E HurlesWellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.
Bernd WollnikInstitute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Grant S StewartInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Andrew P JacksonMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Institute of Genetics and Cancer · GBUniversity of Cologne · DEUniversity of Birmingham · GBMarmara University · TRUniversity of Cambridge · GBAlfred I. duPont Hospital for Children · USAzienda Ospedaliera Sant'Andrea · ITIstituto di Genetica Molecolare · ITIstituto Giannina Gaslini · ITUniversity of Liverpool · GBWellcome Sanger Institute · GB

Funding

Cancer Research UK 11224Cancer Research UK 13030Cancer Research UK 18796Cancer Research UK C17183/A13030Cancer Research UK C6/A11224European Research Council 281847Medical Research Council MC_PC_U127580972Wellcome Trust
6 · The paper itself

Abstract

DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions.

Indexed as

DNA DamageMutationAmino Acid SequenceCell ProliferationChild, PreschoolDwarfismFaciesHistonesHumansMicrocephalyMolecular Sequence DataPhosphorylationReplication Protein AS PhaseTumor Necrosis Factor Receptor-Associated Peptides and ProteinsUbiquitin-Protein LigasesH2AX protein, humanHistonesReplication Protein ARPA2 protein, humanTRAIP protein, humanTumor Necrosis Factor Receptor-Associated Peptides and ProteinsUbiquitin-Protein Ligases

Identifiers

PMID26595769
PMCPMC4697364
OpenAlexW2200960418

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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.