98%
921
2 minutes
20
Primary cilia are conserved sensory hubs essential for signaling transduction and embryonic development. Ciliary dysfunction causes a variety of developmental syndromes with neurological features and cognitive impairment whose basis mostly remains unknown. Despite connections to neural function, the primary cilium remains an overlooked organelle in the brain. Most neurons have a primary cilium; however, it is still unclear how this organelle modulates brain architecture and function, given the lack of any systemic dissection of neuronal ciliary signaling. Here, we present the first in vivo glance at the molecular composition of cilia in the mouse brain. We have adapted in vivo proximity-dependent biotin identification (iBioID), targeting the biotin ligase BioID2 to primary cilia in neurons of male and female mice. We identified tissue-specific signaling networks residing in neuronal cilia, including Eph/Ephrin signaling. We also uncovered a novel connection between primary cilia and gamma-aminobutyric acid signaling. Our iBioID ciliary network presents a wealth of new and neural-specific ciliary signaling proteins and yields new insights into neurological disorders. Our findings are a promising first step in defining the fundamentals of ciliary signaling and their roles in shaping neural circuits and behavior. In the future, this work can be extended to pathological conditions of the brain, with the goal of identifying ciliary signaling pathways disrupted in these disorders and the ultimate aim of finding novel therapeutic strategies.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352538 | PMC |
http://dx.doi.org/10.1523/JNEUROSCI.0800-24.2025 | DOI Listing |
Curr Biol
September 2025
Department of Biology, University of Copenhagen, Universitetsparken 13, 2100 Copenhagen Ø, Denmark. Electronic address:
Dynamic control of ciliary membrane protein content is crucial for the organelle's homeostasis and signaling function and involves removal of ciliary components by intraflagellar transport (IFT) and BBSome-mediated export, endocytic retrieval, and/or extracellular vesicle (EV) shedding. We report that the kinesin-3 motor KIF13B regulates ciliary protein composition and EV shedding in cultured kidney epithelial cells, with effects that vary over time. In early stages of ciliation, Kif13b cells aberrantly accumulate polycystin-2 (PC2) within cilia and release large EVs enriched with CCDC198 and the centriole distal appendage protein CCDC92, which also localizes to the ciliary tip.
View Article and Find Full Text PDFJ Am Soc Nephrol
September 2025
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Background: Genetic modifiers are believed to play an important role in the onset and severity of polycystic kidney disease (PKD), but identifying these modifiers has been challenging due to the lack of effective methodologies.
Methods: We generated zebrafish mutants of IFT140, a skeletal ciliopathy gene and newly identified autosomal dominant PKD (ADPKD) gene, to examine skeletal development and kidney cyst formation in larval and juvenile mutants. Additionally, we utilized ift140 crispants, generated through efficient microhomology-mediated end joining (MMEJ)-based genome editing, to compare phenotypes with mutants and conduct a pilot genetic modifier screen.
Cytoskeleton (Hoboken)
September 2025
College of Life Sciences, Shandong Normal University, Jinan, China.
Cilia, evolutionarily conserved organelles on eukaryotic cell surfaces, depend on the intraflagellar transport (IFT) system for their assembly, maintenance, and signaling. The IFT system orchestrates bidirectional trafficking of structural components and signaling molecules through coordinated actions of protein complexes and molecular motors. IFT complexes assemble into anterograde trains at the ciliary base and undergo structural remodeling at the ciliary tip to form retrograde trains, with bidirectional motility regulated by modifications on the trains per se and the microtubule tracks.
View Article and Find Full Text PDFAsian J Androl
September 2025
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired motility of cilia and flagella. Mutations in cilia- and flagella-associated protein 300 (CFAP300) are associated with human PCD and male infertility; however, the underlying pathogenic mechanisms remain poorly understood. In a consanguineous Chinese family, we identified a homozygous CFAP300 loss-of-function variant (c.
View Article and Find Full Text PDFbioRxiv
August 2025
Department of Biology and Biotechnology, Worcester Polytechnic Institute, Worcester, MA 01609.
Heterotrimeric G proteins transduce signals from G protein coupled receptors, which mediate key aspects of neuronal development and function. Mutations in the gene, which encodes Gαi1, cause a disorder characterized by developmental delay, intellectual disability, hypotonia, and epilepsy. However, the mechanistic basis for this disorder remains unknown.
View Article and Find Full Text PDF