Cilia and development

Abstract

The role of mammalian cilia in cell signalling was first identified in embryonic development and subsequent analysis has revealed roles in multiple signalling pathways. We now understand that these developmental roles impact human health and this is evident in the class of ciliary diseases which we call the ciliopathies. By their nature cilia defects are usually pleiotropic, affecting more than one system. This often leads to early lethality, meaning that subsequent functions are harder to examine. Current studies are revealing previously unrealised cilia-related phenotypes later in embryonic development. Furthermore, they are exposing the importance of cell biology in understanding the mechanisms of cilia function. In this review, we discuss advances in the field.