title: The centrosome in human genetic disease.
abstract: The centrosome is an indispensable component of the cell-cycle machinery of eukaryotic cells, and the perturbation of core centrosomal or centrosome-associated proteins is linked to cell-cycle misregulation and cancer. Recent work has expanded our understanding of the functional complexity and importance of this organelle. The centrosomal localization of proteins that are involved in human genetic disease, and the identification of novel centrosome-associated proteins, has shown that numerous, seemingly unrelated, cellular processes can be perturbed by centrosomal dysfunction. Here, we review the mechanistic relationship between human disease phenotypes and the function of the centrosome, and describe some of the newly-appreciated functions of this organelle in animal cells.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, John Hopkins University, 533 Broadway Research Building, 733 N. Broadway, Baltimore, Maryland 21205, USA.
authors.forename: Jose L
authors.initials: JL
authors.lastname: Badano
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Teslovich
authors.forename: Nicholas
authors.initials: N
authors.lastname: Katsanis
mesh_terms: D000818:Animals; D001692:Biological Transport; D002465:Cell Movement; D018385:Centrosome / Q000502:physiology*; D002923:Cilia / Q000502:physiology; D002925:Ciliary Motility Disorders / Q000503:physiopathology; D030342:Genetic Diseases, Inborn / Q000503:physiopathology*; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000502:physiology; D022101:Microtubule-Organizing Center / Q000502:physiology; D009474:Neurons / Q000502:physiology; D046988:Proteasome Endopeptidase Complex / Q000378:metabolism; D025801:Ubiquitin / Q000378:metabolism
chemical_list: D008869:Microtubule-Associated Proteins; D025801:Ubiquitin; D046988:Proteasome Endopeptidase Complex