Centrosomes, Cilia, and Microcephaly

The centrosome, composed of centrioles embedded in a protein-rich pericentriolar matrix, is the key microtubule organizing center. As such, centrosomes are important for processes such as cell division, cell polarity, and migration. Upon exiting from the cell cycle, most human cell types convert their centrioles into basal bodies of primary cilia, involved in signal transduction from the cell surface. Mutations in centrosome and cilia genes cause numerous developmental disorders, ranging from diseases that exclusively affect brain development via more general growth failure syndromes to pleiotropic pathologies associated with ciliary malfunction that affect predominantly brain, kidney, eye, and liver. In this talk, I will give a brief overview of centrosome and ciliary diseases associated with microcephaly.