Our review on challenges for ciliopathies linking genotypes to patient phenotypes and cilia function is out!
Thrilled to announce that our collaborative effort led by the amazing Lotte Pedersen and Søren Christiansen is now our in Nature Reviews Genetics, a long time coming but we hope it is useful for the community- Primary cilia as dynamic and diverse signalling hubs in development and disease.
Diversity of the mammalian cilia
We had an outstanding editor Linda Koch and hugely constructive reviewers to help make this piece the accessible conversation-started that we wanted- we are very grateful for all their inputs.
We know that mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. While we are just scratching the surface of the huge structural and functional diversity of the mammalian cilia repertoire, there remains a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. We discuss recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. We examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.
