title: Marrow failure: a window into ribosome biology.
abstract: Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition. Genetic and molecular studies have uncovered distinct abnormalities in ribosome biogenesis underlying each of these 3 disorders. How defects in ribosomes, the essential organelles required for protein biosynthesis in all cells, cause tissue-specific abnormalities in human disease remains a question of fundamental scientific and medical importance. Here we review the overlapping and distinct clinical features of these 3 syndromes and discuss current knowledge regarding the ribosomal pathways disrupted in each of these disorders. We also explore the increasing complexity of ribosome biology and how this informs our understanding of developmental biology and human disease.
authors.affiliation: Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA;
authors.forename: Davide
authors.initials: D
authors.lastname: Ruggero
authors.affiliation: Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA; Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA; and Department of Pediatrics, University of Washington, Seattle, WA.
authors.forename: Akiko
authors.identifier: http://orcid.org/0000-0002-4683-9958
authors.initials: A
authors.lastname: Shimamura
mesh_terms: D000818:Animals; D001853:Bone Marrow / Q000473:pathology*; D001855:Bone Marrow Diseases / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008954:Models, Biological; D014176:Protein Biosynthesis; D012270:Ribosomes / Q000378:metabolism*