Section of Molecular Genetics and Microbiology, The University of Texas at Austin, Texas 78712, USA.
Genes Dev. 2011 May 1;25(9):898-900. doi: 10.1101/gad.2053011.
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.
人类 SBDS（Shwachman-Bodian-Diamond 综合征）基因突变是 Shwachman-Diamond 综合征（一种遗传性骨髓衰竭综合征）的最常见原因。在本期《基因与发育》中，Finch 及其同事（第 917-929 页）证实 SBDS 通过以 GTP 依赖性方式促进真核起始因子 6（eIF6）的循环利用，在核糖体合成中发挥作用。这项工作支持了核糖体病可能是该综合征基础的观点。
