The primary cilium gene CPLANE1 is required for peripheral nervous system development.

Abstract

Ciliopathies are a group of neurodevelopmental disorders characterized by the dysfunction of the primary cilium. This small protrusion from most cells of our body serves as a signaling hub for cell-to-cell communication during development. Cell proliferation, differentiation, migration, and neural circuit formation have been demonstrated to depend on functional primary cilia. In the context of ciliopathies, the focus has been on the development of the central nervous system, while the peripheral nervous system has not been studied in depth. In line with phenotypes seen in patients, the absence of a functional primary cilium was shown to affect the migration of cranial and vagal neural crest cells, which contribute to the development of craniofacial features and the heart, respectively. We show here that the ciliopathy gene Cplane1 is required for the development of the peripheral nervous system. Loss of Cplane1 function in chicken embryos induces defects in dorsal root ganglia, which vary in size and fail to localize symmetrically along the spinal cord. These defects may help to understand the alteration in somatosensory perceptions described in some ciliopathy patients.