Ribosomes and marrow failure: coincidental association or molecular paradigm?

Blood. 2006 Jun 15;107(12):4583-8. doi: 10.1182/blood-2005-12-4831. Epub 2006 Feb 28.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / metabolism
  • Bone Marrow Diseases / therapy
  • Genes, rRNA / genetics*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Genetic Diseases, Inborn / therapy
  • Hematopoiesis / genetics*
  • Humans
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism
  • Ribosomes / genetics*
  • Ribosomes / metabolism
  • Syndrome


  • Ribosomal Proteins