title: The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development.
abstract: Fairly recently, it was recognized that human ribosomopathies-developmental defects caused by mutations in ribosome biogenesis proteins-can exhibit tissue-specific defects rather than the expected global defects. This apparent anomaly-that seemingly ubiquitously expressed and required ribosomal proteins can have distinct functions in cell and tissue differentiation-has spurred new areas of research focused on better understanding translational mechanisms, biogenesis, and function in diverse cell types. This renewed appreciation for, and need to better understand, roles for ribosomal proteins in human development and disease has identified surprising similarities and differences in a variety of human ribosomopathies. Here, we discuss ribosomal protein functions in health and disease, focusing on the ribosome biogenesis protein Utp5/WDR43. New and exciting research in this field is anticipated to provide insight into a variety of previously understudied craniofacial dysostoses and result in significantly improved knowledge and understanding of roles for translational machinery in human craniofacial development and disease.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: S B
authors.initials: SB
authors.lastname: Sondalle
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT, USA Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: S J
authors.initials: SJ
authors.lastname: Baserga
authors.affiliation: Department of Orthodontics, Division of Craniofacial and Molecular Genetics, Tufts University, Boston, MA, USA pamela.yelick@tufts.edu.
authors.forename: P C
authors.initials: PC
authors.lastname: Yelick
mesh_terms: D000818:Animals; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005147:Facial Bones / Q000254:growth & development*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology; D012269:Ribosomal Proteins / Q000235:genetics / Q000502:physiology*; D012270:Ribosomes / Q000378:metabolism / Q000502:physiology; D012886:Skull / Q000254:growth & development*; D029961:Zebrafish Proteins / Q000235:genetics / Q000502:physiology
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D012269:Ribosomal Proteins; C000588911:Wdr43 protein, zebrafish; D029961:Zebrafish Proteins
keywords: cell biology; craniofacial anomalies; craniofacial biology/genetics; developmental biology; genetics; zebrafish