期刊
GENES & DEVELOPMENT
卷 25, 期 9, 页码 898-900出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gad.2053011
关键词
bone marrow failure syndromes; ribosome assembly; eIF6; human genetics; leukemia; ribosomopathy; NMR
资金
- NIH [GM53622]
- Swachman Diamond Project
Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.
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