title: Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?
abstract: Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.
authors.affiliation: Section of Molecular Genetics and Microbiology, The University of Texas at Austin, Texas 78712, USA. arlen@mail.utexas.edu
authors.forename: Arlen W
authors.initials: AW
authors.lastname: Johnson
authors.forename: Steve R
authors.initials: SR
authors.lastname: Ellis
mesh_terms: D000818:Animals; D001855:Bone Marrow Diseases / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D001842:Bone and Bones / Q000473:pathology; D004195:Disease Models, Animal; D010188:Exocrine Pancreatic Insufficiency / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008068:Lipomatosis; D020653:Peptide Elongation Factor G / Q000378:metabolism; D010766:Phosphorylation; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D050783:Proto-Oncogene Proteins c-ets / Q000378:metabolism; D054683:Ribosome Subunits, Large, Eukaryotic / Q000378:metabolism; D012270:Ribosomes / Q000473:pathology*; D000081003:Shwachman-Diamond Syndrome
chemical_list: D020653:Peptide Elongation Factor G; D011506:Proteins; D050783:Proto-Oncogene Proteins c-ets; C470521:SBDS protein, human