Renal cystic diseases are conditions in which parts of or entire nephrons become enlarged and create fluid-filled cysts. These cysts occur in many genetic diseases. Most of the products of causative genes, termed cysto-proteins, are localized in cilia and/or centrioles. In addition, mutant mice lacking cilia develop renal cysts. Therefore, cilia are thought to have an important role in renal cystogenesis. The cilium is a tiny projection from the cell surface; however, it can be divided into several subcompartments. These subcompartments have specific roles. This review attempts to classify cysto-proteins based on their localization in ciliary subcompartments with the aim of defining relationships among them and of identifying their exact intraciliary functions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12565-015-0302-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system.
Biol Open
November 2024
Department of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland.
Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated with additional neurological features. JBTS displays prominent genetic heterogeneity with >40 causative genes that encode proteins localising to the primary cilium, a sensory organelle that is essential for transduction of signalling pathways during neurodevelopment, among other vital functions. JBTS proteins localise to distinct ciliary subcompartments, suggesting diverse functions in cilium biology.
View Article and Find Full Text PDFControl of protein and lipid composition of photoreceptor outer segments-Implications for retinal disease.
Curr Top Dev Biol
December 2023
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland; Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland; University Research Priority Program AdaBD, University of Zurich, Zurich, Switzerland. Electronic address:
Vision is arguably our most important sense, and its loss brings substantial limitations to daily life for affected individuals. Light is perceived in retinal photoreceptors (PRs), which are highly specialized neurons subdivided into several compartments with distinct functions. The outer segments (OSs) of photoreceptors represent highly specialized primary ciliary compartments hosting the phototransduction cascade, which transforms incoming light into a neuronal signal.
View Article and Find Full Text PDFCCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity.
J Cell Biol
December 2023
Department of Molecular Biology and Genetics, Koç University, Istanbul, Turkey.
Centrioles are microtubule-based organelles responsible for forming centrosomes and cilia, which serve as microtubule-organizing, signaling, and motility centers. Biogenesis and maintenance of centrioles with proper number, size, and architecture are vital for their functions during development and physiology. While centriole number control has been well-studied, less is understood about their maintenance as stable structures with conserved size and architecture during cell division and ciliary motility.
View Article and Find Full Text PDFExpansion Microscopy of Mouse Photoreceptor Cilia.
Adv Exp Med Biol
July 2023
Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
The small size of ciliary structures that underlies photoreceptor function and inherited ciliopathies requires imaging techniques adapted to visualizing them at the highest possible resolution. In addition to powerful super-resolution imaging modalities, emerging approaches to sample preparation, including expansion microscopy (ExM), can provide a robust route to imaging specific molecules at the nanoscale level in the retina. We describe a protocol for applying ExM to whole retinas in order to achieve nanoscale fluorescence imaging of ciliary markers, including tubulin, CEP290, centrin, and CEP164.
View Article and Find Full Text PDFCompartmentalised cAMP signalling in the primary cilium.
Front Physiol
May 2023
Department of Physiology, Anatomy and Genetics, The University of Oxford, Oxford, United Kingdom.
cAMP is a universal second messenger that relies on precise spatio-temporal regulation to control varied, and often opposing, cellular functions. This is achieved via selective activation of effectors embedded in multiprotein complexes, or signalosomes, that reside at distinct subcellular locations. cAMP is also one of many pathways known to operate within the primary cilium.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!