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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Ribosomes and marrow failure: coincidental association or molecular paradigm?

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia ( CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome ( SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome synthesis may contribute to each of these bone marrow failure syndromes (and perhaps others), precisely which feature of each disease is a consequence of failure to produce adequate amounts of ribosomes is obscured by the tendency of each gene product to have extraribosomal functions. Delineation of the precise role of each gene product in ribosomal biogenesis and in hematopoietic development may have both therapeutic and prognostic importance and perhaps even direct the search for new bone marrow failure genes.[1]


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