Somatic genetic rescue of a germline ribosome assembly defect
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...
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Nature Portfolio
2021
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oai:doaj.org-article:a48dd70c00914ebb83beed70d65306d72021-12-02T16:45:42ZSomatic genetic rescue of a germline ribosome assembly defect10.1038/s41467-021-24999-52041-1723https://doaj.org/article/a48dd70c00914ebb83beed70d65306d72021-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24999-5https://doaj.org/toc/2041-1723Shwachman-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.Shengjiang TanLaëtitia KermassonChristine HilcenkoVasileios KargasDavid TraynorAhmed Z. BoukerrouNorberto Escudero-UrquijoAlexandre FailleAlexis BertrandMaxim RossmannBeatriz GoyenecheaLi JinJonathan MoreilOlivier AlibeuBlandine BeaupainChristine Bôle-FeysotStefano FumagalliSophie KaltenbachJean-Alain MartignolesCécile MassonPatrick NitschkéMélanie ParisotAurore PoulietIsabelle Radford-WeissFrédéric ToresJean-Pierre de VillartayMohammed ZarhrateAi Ling KohKong Boo PhuaBruno ReversadePeter J. BondChristine Bellanné-ChantelotIsabelle CallebautFrançois DelhommeauJean DonadieuAlan J. WarrenPatrick RevyNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-17 (2021) |
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DOAJ |
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DOAJ |
| language |
EN |
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Science Q |
| spellingShingle |
Science Q 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 Somatic genetic rescue of a germline ribosome assembly defect |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Shengjiang Tan |
| title |
Somatic genetic rescue of a germline ribosome assembly defect |
| title_short |
Somatic genetic rescue of a germline ribosome assembly defect |
| title_full |
Somatic genetic rescue of a germline ribosome assembly defect |
| title_fullStr |
Somatic genetic rescue of a germline ribosome assembly defect |
| title_full_unstemmed |
Somatic genetic rescue of a germline ribosome assembly defect |
| title_sort |
somatic genetic rescue of a germline ribosome assembly defect |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7 |
| work_keys_str_mv |
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1718383470957297664 |