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Comment
. 2011 May 1;25(9):898-900.
doi: 10.1101/gad.2053011.

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Arlen W Johnson  1 , Steve R Ellis
Affiliations
Comment

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Arlen W Johnson et al. Genes Dev. .

Abstract

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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