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Reference: Moore JB 4th, et al. (2010) Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica 95(1):57-64

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Abstract


Background Diamond Blackfan anemia (DBA) and Shwachman Diamond syndrome (SDS) are inherited bone marrow failure syndromes linked to defects in ribosome synthesis. The purpose of this study was to determine if yeast models for DBA and SDS differed in the mechanism by which ribosome synthesis was affected. DESIGN AND METHODS: Northern blotting, pulse-chase analysis, and polysome profiling were used to study ribosome synthesis in yeast models. Localization of 60S ribosomal subunits was assessed using RPL25eGFP. RESULTS: Relative to wild-type controls, each disease model showed defects in 60S subunit maturation, but with distinct underlying mechanisms. In the DBA model, 60S subunit maturation was disrupted at a relatively early stage with abortive complexes subject to rapid degradation. 5S rRNA, unlike other large subunit rRNAs in this model, accumulated as an extra-ribosomal species. In contrast, subunit maturation in the SDS model was affected at a later step, giving rise to relatively stable pre-60S particles with associated 5S rRNA retained in the nucleus. Conclusions These differences between the yeast DBA and SDS models have implications for signaling mechanisms linking abortive ribosome assembly to cell fate decisions and may contribute to the divergent clinical presentations of DBA and SDS.

Reference Type
Journal Article
Authors
Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR
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