ArticleHaematologica2010
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
Article in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- How interdiction of inositol pyrophosphate catabolism perturbs the fission yeast response to phosphate starvation.Nucleic acids research · 2026Article
- Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.Molecular medicine (Cambridge, Mass.) · 2026Article
- Review
- RNF10 and RIOK3 facilitate 40S ribosomal subunit degradation upon 60S biogenesis disruption or amino acid starvation.Cell reports · 2025Article
- The RNA-Binding Function of Ribosomal Proteins and Ribosome Biogenesis Factors in Human Health and Disease.Biomedicines · 2023Review
- Wide mutational analysis to ascertain the functional roles of eL33 in ribosome biogenesis and translation initiation.Current genetics · 2022Article
- Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.Cell reports · 2022Article
- Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.Human mutation · 2020Article
- Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.Cell & bioscience · 2020Article
- Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.PLoS genetics · 2017Article
- Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation.Protein & cell · 2016Article
- Ribosomopathies: Global process, tissue specific defects.Rare diseases (Austin, Tex.) · 2015Review
- Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.Biochimica et biophysica acta · 2014Review
- Ribosome biogenesis in the yeast Saccharomyces cerevisiae.Genetics · 2013Review
- Yeast polypeptide exit tunnel ribosomal proteins L17, L35 and L37 are necessary to recruit late-assembling factors required for 27SB pre-rRNA processing.Nucleic acids research · 2013Article
- Article
- Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.Annals of the New York Academy of Sciences · 2011Article
- Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?Genes & development · 2011Article
- Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.Seminars in hematology · 2011Review
- Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.Current opinion in hematology · 2011Review
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Authors and funding
5 authors.
Funding
Abstract
backgroundDiamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis. The purpose of this study was to determine whether yeast models for Diamond-Blackfan anemia and Shwachman-Diamond syndrome differed in the mechanism by which ribosome synthesis was affected. DESIGN AND
methodsNorthern 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.
resultsRelative to wild-type controls, each disease model showed defects in 60S subunit maturation, but with distinct underlying mechanisms. In the model of Diamond-Blackfan anemia, 60S subunit maturation was disrupted at a relatively early stage with abortive complexes subject to rapid degradation. 5S ribosomal RNA, unlike other large subunit ribosomal RNA in this model, accumulated as an extra-ribosomal species. In contrast, subunit maturation in the Shwachman-Diamond syndrome model was affected at a later step, giving rise to relatively stable pre-60S particles with associated 5S ribosomal RNA retained in the nucleus. Conclusions These differences between the yeast Diamond-Blackfan anemia and Shwachman-Diamond syndrome models have implications for signaling mechanisms linking abortive ribosome assembly to cell fate decisions and may contribute to the divergent clinical presentations of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
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