Evidence map›Paper›PMID 36385105›Full record

ArticleNature communications2022

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

Aurélie de Thonel, Johanna K Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris and 28 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 17% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
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  3. Review
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  5. Review
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  7. Five novelFrontiers in genetics · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

38 authors at 8 institutions in 7 countries.

Aurélie de ThonelUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France. aurelie.dethonel@univ-paris-diderot.fr.ORCID http://orcid.org/0000-0003-0405-0745
Johanna K Ahlskog *Faculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.
Kevin Daupin *Université de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.ORCID http://orcid.org/0000-0003-3303-2319
Véronique DubreuilUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Jérémy BertheletUniversité de Paris, CNRS, Unité de Biologie Fonctionnelle et Adaptative, Paris, France.
Carole ChaputUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.ORCID http://orcid.org/0000-0003-4493-000X
Geoffrey PiresUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Camille LeonettiUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Ryma AbaneUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Lluís Cordón BarrisLaboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, CHU Sart Tilman, Liège, Belgium.
Isabelle LerayUniversité de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France.
Anna L AaltoFaculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.ORCID http://orcid.org/0000-0001-5503-6447
Sarah NaceriUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Marine CordonnierINSERM, UMR1231, Laboratoire d'Excellence LipSTIC, Dijon, France.
Carène BenasoloUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Matthieu SanialCNRS, UMR 7592 Institut Jacques Monod, F-75205, Paris, France.ORCID http://orcid.org/0000-0002-0301-4710
Agathe DuchateauUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.
Anniina VihervaaraFaculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.ORCID http://orcid.org/0000-0001-6256-4694
Mikael C PuustinenFaculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.
Federico MiozzoUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.ORCID http://orcid.org/0000-0003-0818-9525
Patricia FergelotDepartment of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France and INSERM U1211, University of Bordeaux, Bordeaux, France.
Élise LebigotService de Biochimie-pharmaco-toxicologie, Hôpital Bicêtre, Hopitaux Universitaires Paris-Sud, 94270 Le Kremlin Bicêtre, Paris-Sud, France.ORCID http://orcid.org/0000-0003-0419-8547
Alain VerloesUniversité de Paris, INSERM, NeuroDiderot, Robert-Debré Hospital, F-75019, Paris, France.
Pierre GressensUniversité de Paris, INSERM, NeuroDiderot, Robert-Debré Hospital, F-75019, Paris, France.ORCID http://orcid.org/0000-0002-0909-4221
Didier LacombeDepartment of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France and INSERM U1211, University of Bordeaux, Bordeaux, France.
Jessica GobboINSERM, UMR1231, Laboratoire d'Excellence LipSTIC, Dijon, France.
Carmen GarridoINSERM, UMR1231, Laboratoire d'Excellence LipSTIC, Dijon, France.
Sandy D WesterheideDepartment of Cell Biology, Microbiology, and Molecular Biology, College of Arts and Sciences, University of South Florida, Tampa, FL, USA.
Laurent DavidUniversité de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France.ORCID http://orcid.org/0000-0003-3594-0353
Michel PetitjeanUniversité de Paris, CNRS, Unité de Biologie Fonctionnelle et Adaptative, Paris, France.ORCID http://orcid.org/0000-0002-1745-5402
Olivier TaboureauUniversité de Paris, CNRS, Unité de Biologie Fonctionnelle et Adaptative, Paris, France.
Fernando Rodrigues-LimaUniversité de Paris, CNRS, Unité de Biologie Fonctionnelle et Adaptative, Paris, France.
Sandrine PassemardUniversité de Paris, INSERM, NeuroDiderot, Robert-Debré Hospital, F-75019, Paris, France.
Délara Sabéran-DjoneidiUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France.ORCID http://orcid.org/0000-0002-2757-6419
Laurent NguyenLaboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, CHU Sart Tilman, Liège, Belgium.
Madeline LancasterMRC Laboratory of Molecular Biology, Cambridge Biomedical, Campus, Cambridge, UK.ORCID http://orcid.org/0000-0003-2324-8853
Lea SistonenFaculty of Science and Engineering, Cell Biology, Åbo Akademi University, Turku, Finland.ORCID http://orcid.org/0000-0003-1341-2867
Valérie MezgerUniversité de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France. valerie.mezger@univ-paris-diderot.fr.ORCID http://orcid.org/0000-0003-1623-6213
Centre National de la Recherche Scientifique · FRInserm · FRÅbo Akademi University · FIUniversité de Bordeaux · FRUniversity of Liège · BEBicêtre Hospital · FRMRC Laboratory of Molecular Biology · GBUniversity of South Florida · US

Funding

Medical Research Council MC_UP_1201/9
6 · The paper itself

Abstract

Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). The biological pathways underlying these neurodevelopmental defects remain elusive. Here, we unravel the contribution of a stress-responsive pathway to RSTS. We characterize the structural and functional interaction between CBP/EP300 and heat-shock factor 2 (HSF2), a tuner of brain cortical development and major player in prenatal stress responses in the neocortex: CBP/EP300 acetylates HSF2, leading to the stabilization of the HSF2 protein. Consequently, RSTS patient-derived primary cells show decreased levels of HSF2 and HSF2-dependent alteration in their repertoire of molecular chaperones and stress response. Moreover, we unravel a CBP/EP300-HSF2-N-cadherin cascade that is also active in neurodevelopmental contexts, and show that its deregulation disturbs neuroepithelial integrity in 2D and 3D organoid models of cerebral development, generated from RSTS patient-derived iPSC cells, providing a molecular reading key for this complex pathology.

Indexed as

CREB-Binding ProteinHeat-Shock ProteinsNeurodevelopmental DisordersRubinstein-Taybi SyndromeTranscription FactorsE1A-Associated p300 ProteinHistonesHumansMutationCREB-Binding ProteinE1A-Associated p300 ProteinEP300 protein, humanHeat-Shock ProteinsHistonesHSF2 protein, humanTranscription Factors

Identifiers

PMID36385105
PMCPMC9668993
OpenAlexW4309127797

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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.