Somatic genetic rescue of a germline ribosome assembly defect.

doi:10.1038/s41467-021-24999-5

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Article

Somatic genetic rescue of a germline ribosome assembly defect.

Nature communications - 19 Aug 2021

Tan Shengjiang, Kermasson Laëtitia, Hilcenko Christine, Kargas Vasileios, Traynor David, Boukerrou Ahmed Z, Escudero-Urquijo Norberto, Faille Alexandre, Bertrand Alexis, Rossmann Maxim, Goyenechea Beatriz, Jin Li, Moreil Jonathan, Alibeu Olivier, Beaupain Blandine, Bôle-Feysot Christine, Fumagalli Stefano, Kaltenbach Sophie, Martignoles Jean-Alain, Masson Cécile, Nitschké Patrick, Parisot Mélanie, Pouliet Aurore, Radford-Weiss Isabelle, Tores Frédéric, de Villartay Jean-Pierre, Zarhrate Mohammed, Koh Ai Ling, Phua Kong Boo, Reversade Bruno, Bond Peter J, Bellanné-Chantelot Christine, Callebaut Isabelle, Delhommeau François, Donadieu Jean, Warren Alan J, Revy Patrick

Abstract excerpt

Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a leukemia predisposition disorder caused by a germline defect in ribosome assembly. Biallelic mutations in the SBDS or EFL1 genes in SDS impair release of the...

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PMID: 34413298
DOI: 10.1038/s41467-021-24999-5
PMCID: PMC8377010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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