학술논문
Somatic genetic rescue of a germline ribosome assembly defect
Document Type
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
Source
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Subject
Language
English
ISSN
2041-1723
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.