Nature Communications (Aug 2021)
Somatic genetic rescue of a germline ribosome assembly defect
- Shengjiang Tan,
- Laëtitia Kermasson,
- Christine Hilcenko,
- Vasileios Kargas,
- David Traynor,
- Ahmed Z. Boukerrou,
- Norberto Escudero-Urquijo,
- Alexandre Faille,
- Alexis Bertrand,
- Maxim Rossmann,
- Beatriz Goyenechea,
- Li Jin,
- Jonathan Moreil,
- Olivier Alibeu,
- Blandine Beaupain,
- Christine Bôle-Feysot,
- Stefano Fumagalli,
- Sophie Kaltenbach,
- Jean-Alain Martignoles,
- Cécile Masson,
- Patrick Nitschké,
- Mélanie Parisot,
- Aurore Pouliet,
- Isabelle Radford-Weiss,
- Frédéric Tores,
- Jean-Pierre de Villartay,
- Mohammed Zarhrate,
- Ai Ling Koh,
- Kong Boo Phua,
- Bruno Reversade,
- Peter J. Bond,
- Christine Bellanné-Chantelot,
- Isabelle Callebaut,
- François Delhommeau,
- Jean Donadieu,
- Alan J. Warren,
- Patrick Revy
Affiliations
- Shengjiang Tan
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Laëtitia Kermasson
- Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163
- Christine Hilcenko
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Vasileios Kargas
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- David Traynor
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Ahmed Z. Boukerrou
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Norberto Escudero-Urquijo
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Alexandre Faille
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Alexis Bertrand
- Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163
- Maxim Rossmann
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Beatriz Goyenechea
- Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus
- Li Jin
- Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus
- Jonathan Moreil
- Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163
- Olivier Alibeu
- INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Blandine Beaupain
- French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital
- Christine Bôle-Feysot
- INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Stefano Fumagalli
- Institut Necker Enfants Malades
- Sophie Kaltenbach
- Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité
- Jean-Alain Martignoles
- Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique
- Cécile Masson
- INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Patrick Nitschké
- INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Mélanie Parisot
- INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Aurore Pouliet
- INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Isabelle Radford-Weiss
- Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité
- Frédéric Tores
- INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Jean-Pierre de Villartay
- Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163
- Mohammed Zarhrate
- INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute
- Ai Ling Koh
- Department of Paediatrics, KK Women’s and Children’s Hospital
- Kong Boo Phua
- Department of Paediatrics, KK Women’s and Children’s Hospital
- Bruno Reversade
- Genome Institute of Singapore, A*STAR, Biopolis
- Peter J. Bond
- Bioinformatics Institute (A*STAR)
- Christine Bellanné-Chantelot
- Department of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University
- Isabelle Callebaut
- Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC
- François Delhommeau
- Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique
- Jean Donadieu
- Service d’Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques
- Alan J. Warren
- Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd
- Patrick Revy
- Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163
- DOI
- https://doi.org/10.1038/s41467-021-24999-5
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 17
Abstract
Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from individuals with SDS and provide a selective advantage over non-modified cells.
