The primary cilium: guardian of organ development and homeostasis

Abstract

The primary cilium is an antenna-like organelle that plays a vital role in organ generation and maintenance. It protrudes from the cell surface where it receives signals from the surrounding environment and relays them into the cell. These signals are then integrated to give the required outputs in terms of proliferation, differentiation, migration and polarization that ultimately lead to organ development and homeostasis. Defects in cilia function underlie a wide range of diverse but related human developmental or degenerative diseases. Collectively known as ciliopathies, these disorders present with varying severity and multiple organ involvement. The appreciation of the medical importance of the primary cilium has stimulated a huge effort into studies of the underlying cellular mechanisms. These in turn have revealed that ciliopathies result not only from defective assembly or organization of the primary cilium, but also from impaired ciliary signaling. This special edition of Organogenesis contains a set of review articles that highlight the role of the primary cilium in organ development and homeostasis, much of which has been learnt from studies of the associated human diseases. Here, we provide an introductory overview of our current understanding of the structure and function of the cilium, with a focus on the signaling pathways that are coordinated by primary cilia to ensure proper organ generation and maintenance.

Keywords: cilia; ciliopathies; primary cilium; signaling pathways; syndromic diseases.

Figure 1. A schematic overview of the primary cilium illustrating the signaling pathways that are controlled through this organelle, and the clinical phenotypes, organ involvement and syndromic ciliopathies associated with defects in primary cilium signaling. MKS, Meckel-Gruber Syndrome; JBTS, Joubert Syndrome: BBS, Bardet Biedl Syndrome; NPHP, nephronophthisis; OFD, Oral-Facial-Digital Syndrome; SLS, Senior-Løken Syndrome; AS, Alstrom Syndrome; SRPS, Short Rib-Polydactyly Syndrome; EVS, Ellis-van Creveld Syndrome.