title: Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
abstract: The skeleton affords a framework and structural support for vertebrates, while also facilitating movement, protecting vital organs, and providing a reservoir of minerals and cells for immune system and vascular homeostasis. The mechanical and biological functions of the skeleton are inextricably linked to the size and shape of individual bones, the diversity of which is dependent in part upon differential growth and proliferation. Perturbation of bone development, growth and proliferation, can result in congenital skeletal anomalies, which affect approximately 1 in 3000 live births [1]. Ribosome biogenesis is integral to all cell growth and proliferation through its roles in translating mRNAs and building proteins. Disruption of any steps in the process of ribosome biogenesis can lead to congenital disorders termed ribosomopathies. In this review, we discuss the role of ribosome biogenesis in skeletal development and in the pathogenesis of congenital skeletal anomalies. This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease.
authors.affiliation: Stowers Institute for Medical Research, Kansas City, MO, USA; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA. Electronic address: pat@stowers.org.
authors.forename: Paul A
authors.initials: PA
authors.lastname: Trainor
authors.affiliation: Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA; Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: amerrill@usc.edu.
authors.forename: Amy E
authors.initials: AE
authors.lastname: Merrill
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics / Q000473:pathology; D001846:Bone Development / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001855:Bone Marrow Diseases / Q000235:genetics / Q000473:pathology; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics / Q000473:pathology; D006197:Hair / Q000002:abnormalities / Q000473:pathology; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology; D008068:Lipomatosis / Q000235:genetics / Q000473:pathology; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000473:pathology; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics / Q000473:pathology; D000081207:Primary Immunodeficiency Diseases; D012333:RNA, Messenger / Q000235:genetics; D012270:Ribosomes / Q000235:genetics / Q000378:metabolism*; D000081003:Shwachman-Diamond Syndrome; D012863:Skeleton
chemical_list: D012333:RNA, Messenger
keywords: Cartilage hair hypoplasia; Ribosome biogenesis; Roberts syndrome; Shwachman–Diamond syndrome; Skeletal development; Treacher Collins syndrome