Cilia, neural development and disease

Abstract

Neural development requires a series of cellular events starting with cell specification, proliferation, and migration. Subsequently, axons and dendrites project from the cell surface to form connections to other neurons, interneurons and glia. Anomalies in any one of these steps can lead to malformation or malfunction of the nervous system. Here we review the critical role the primary cilium plays in the fundamental steps of neurodevelopment. By highlighting human diseases caused by mutations in cilia-associated proteins, it is clear that cilia are essential to multiple neural processes. Furthermore, we explore whether additional aspects of cilia regulation, most notably post-translational modification of the tubulin scaffold in cilia, play underappreciated roles in neural development. Finally, we discuss whether cilia-associated proteins function outside the cilium in some aspects of neurodevelopment. These data underscore both the importance of cilia in the nervous system and some outstanding questions in the field.

Keywords: Axon; Cilia; Ciliopathy; Microtubule; Neurodevelopment.