[Cilia and renal cysts].
Advances in genomics, bioinformatics and the creation of model organisms have identified many genes associated with polycystic kidney diseases. Historically, these genes were not necessarily associated with ciliopathies, but it appeared that many connections can be made between the cystic kidney disease and function of the primary cilium. Indeed, the proteins encoded by these genes are localized to the cilium itself, to the basal body or are known to regulate the expression and localization of ciliary proteins. The goal of this article is to describe the multiple cellular processes that may lead to the development of renal cysts if they are deregulated. These include changes in proliferation rate, cell polarity or signaling pathways involved in embryonic kidney development. To highlight the role of the primary cilium in cystogenesis, I will discuss several studies investigating the function of ciliary genes and cilia in the kidneys of different model organisms.
Sorbonne universités, université Paris 6 UPMC, UMR 7622 CNRS, Inserm U1156, IBPS (institut de biologie Paris Seine), laboratoire de biologie du développement, 9, quai Saint-Bernard, 75005 Paris, France.
Mélanie
M
Paces-Fessy
D000818:Animals; D002455:Cell Division; D002465:Cell Movement; D016764:Cell Polarity; D002923:Cilia / Q000502:physiology*; D002925:Ciliary Motility Disorders / Q000235:genetics / Q000473:pathology*; D004195:Disease Models, Animal; D004847:Epithelial Cells / Q000648:ultrastructure; D053823:Hedgehog Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D007668:Kidney / Q000196:embryology / Q000648:ultrastructure; D052177:Kidney Diseases, Cystic / Q000145:classification / Q000235:genetics / Q000473:pathology*; D051379:Mice; D008938:Mitosis; D008954:Models, Biological; D009024:Morphogenesis; D051381:Rats; D015398:Signal Transduction / Q000502:physiology; D051153:Wnt Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology
D053823:Hedgehog Proteins; D047908:Intracellular Signaling Peptides and Proteins; D051153:Wnt Proteins