title: [Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].
abstract: Diamond-Blackfan anemia (DBA), a rare congenital erythroblastopenia, has recently become a paradigm for a growing set of genetic diseases linked to mutations in genes encoding ribosomal proteins or factors involved in ribosome biogenesis. Recent studies of the structure and the function of ribosomal proteins affected in DBA indicate that their mutation in DBA primarily impacts ribosome biogenesis. Accordingly, cells from DBA patients display anomalies in the maturation of ribosomal RNAs. The explanation of this unexpected link between ribosome biogenesis, a ubiquitous process, and a disease mostly affecting erythroid differentiation may stem in part from the emerging concept of ribosomal stress response, a signaling pathway triggering cell cycle arrest in response to a defect in ribosome synthesis. Future studies of DBA and other diseases related to defects in ribosome biogenesis are likely to rapidly provide important insights into the regulatory mechanisms linking cell cycle progression to this major metabolic pathway.
authors.affiliation: Laboratoire de Biologie Moléculaire Eucaryote, Université de Toulouse et CNRS, 118, route de Narbonne, 31062 Toulouse, France. aguissa@ibcg.biotoul.fr
authors.forename: Almass-Houd
authors.initials: AH
authors.lastname: Aguissa-Touré
authors.forename: Lydie
authors.initials: L
authors.lastname: Da Costa
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Sébastien
authors.initials: S
authors.lastname: Fribourg
authors.forename: Pierre-Emmanuel
authors.initials: PE
authors.lastname: Gleizes
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics / Q000503:physiopathology*; D004920:Erythropoiesis / Q000235:genetics / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D001678:Organelle Biogenesis; D012313:RNA / Q000235:genetics; D012335:RNA, Ribosomal / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D012270:Ribosomes / Q000235:genetics*
chemical_list: D012335:RNA, Ribosomal; D012269:Ribosomal Proteins; D012313:RNA