title: Probing the mechanisms underlying human diseases in making ribosomes.
abstract: Ribosomes are essential, highly complex machines responsible for protein synthesis in all growing cells. Because of their importance, the process of building these machines is intricately regulated. Although the proteins involved in regulating ribosome biogenesis are just beginning to be understood, especially in human cells, the consequences for dysregulating this process have been even less studied. Such interruptions in ribosome synthesis result in a collection of human disorders known as ribosomopathies. Ribosomopathies, which occur due to mutations in proteins involved in the global process of ribosome biogenesis, result in tissue-specific defects. The questions posed by this dichotomy and the steps taken to address these questions are therefore the focus of this review: How can tissue-specific disorders result from alterations in global processes? Could ribosome specialization account for this difference?
authors.affiliation: Department of Molecular Biophysics & Biochemistry, Yale University School of Medicine, New Haven, CT 06520, U.S.A.
authors.forename: Katherine I
authors.initials: KI
authors.lastname: Farley
authors.affiliation: Department of Molecular Biophysics & Biochemistry, Yale University School of Medicine, New Haven, CT 06520, U.S.A. Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, U.S.A. Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, U.S.A. susan.baserga@yale.edu.
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Baserga
mesh_terms: D004194:Disease / Q000235:genetics*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000378:metabolism; D008957:Models, Genetic; D009154:Mutation; D014176:Protein Biosynthesis; D012335:RNA, Ribosomal / Q000235:genetics / Q000378:metabolism; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism; D012270:Ribosomes / Q000235:genetics* / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000378:metabolism
chemical_list: D012335:RNA, Ribosomal; D012269:Ribosomal Proteins; D016159:Tumor Suppressor Protein p53
keywords: ribosome biogenesis; ribosomopathies; specialized ribosomes