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Primary cilia are customized subcellular signaling compartments leveraged to detect signals in diverse physiological contexts. Although prevalent throughout mammalian tissues, primary cilia are not universal. Many non-ciliated cells derive from developmental lineages that include ciliated progenitors; however, little is known about how primary cilia are lost as cells differentiate. Here, we examine how ciliated and non-ciliated states emerge during development and are actively maintained. We highlight several pathways for primary cilia loss, including cilia resorption in pre-mitotic cells, cilia deconstruction in post-mitotic cells, cilia shortening via remodeling, and cilia disassembly preceding multiciliogenesis. Lack of ciliogenesis is known to decrease primary cilia frequency and cause ciliopathies. Failure to maintain cilia can also cause primary cilia to be absent. Conversely, defects in primary cilia suppression or disassembly can lead to the presence of primary cilia in non-ciliated cells. We examine how changes in ciliation states could contribute to tumorigenesis and neurodegeneration.
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http://dx.doi.org/10.1002/bies.70060 | DOI Listing |
J Cell Sci
September 2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
The microtubule motor dynein-2 is responsible for retrograde intraflagellar transport (IFT), a process critical for cilia assembly and cilium-dependent signaling. Mutations in genes encoding dynein-2 subunits interfere with ciliogenesis and are among the most frequent causes of skeletal ciliopathies. Despite its importance, little is known regarding dynein-2 assembly and regulation.
View Article and Find Full Text PDFPhilos Trans A Math Phys Eng Sci
September 2025
Interdisciplinary Centre for Mathematical Modelling and Department of Mathematical Sciences, Loughborough University, Loughborough LE11 3TU, UK.
Nature uses elongated shapes and filaments to build stable structures, generate motion and allow complex geometric interactions. In this review, we examine the role of biological filaments across different length scales. From the molecular scale, where cytoskeletal filaments provide a robust but dynamic cellular scaffolding, over the scale of cellular appendages like cilia and flagella, to the scale of filamentous microorganisms like cyanobacteria, among the most successful genera on Earth, and even to the scale of elongated animals like worms and snakes, whose motility modes inspire robotic analogues.
View Article and Find Full Text PDFHGG Adv
September 2025
Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany. Electronic address:
Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene still remains unknown. Using massively parallel sequencing, we here identified a pathogenic bi-allelic variant in the gene encoding PALS1-Associated Tight Junction Protein (PATJ; also known as Inactivation-No-Afterpotential D-Like, INADL) in an individual with ciliopathy.
View Article and Find Full Text PDFNat Commun
September 2025
Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
Radial spokes (RSs) are conserved multimolecular structures attached to the axonemal microtubule doublets and are essential for the motility control of both cilia and sperm flagella. CFAP91, an RS3 protein, is implicated in human male infertility, yet its molecular function remains poorly understood. Here, we demonstrate that Cfap91 knockout (KO) mice exhibit impaired sperm flagellum formation and male infertility.
View Article and Find Full Text PDFBrain Res Bull
September 2025
Department of Neuroscience of Disease, Brain Research Institute, Niigata University, Niigata, 951-8585, Japan. Electronic address:
Mutations in the UBE3A gene are responsible for neurodevelopmental disorders (NDDs), including Angelman syndrome (AS), which is characterized by developmental delays, impaired motor coordination, and cognitive disabilities. In recent years, UBE3A mutations have also been linked to autism spectrum disorders (ASD), due to their significant role in synaptic plasticity and cognitive function. Although substantial research has utilized mammalian models, the zebrafish (Danio rerio) provides unique opportunities to investigate gene functions owing to their transparent embryos, rapid development, and suitability for large-scale genetic and behavioral studies.
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