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Ciliary and non-ciliary functions of CEP104 in Xenopus

Louka, P.; Potamiti, L.; Panayiotidis, M. I.; Skourides, P.

2025-06-15 cell biology
10.1101/2025.06.12.659327 bioRxiv
Show abstract

Cep104 is a conserved protein essential for centriole and cilia function, with mutations linked to Joubert Syndrome. We investigated its role in Xenopus embryonic development, revealing that Cep104 is crucial for neural tube closure (NTC) through regulating apical constriction. We show that the role of Cep104 in cilia and hedgehog signaling cannot alone explain the elicited defects. We go on to show that Cep104 localizes to the ends of cytoplasmic microtubules, influencing their stability. Downregulation of CEP104 led to microtubule instability and defects in multiciliated cell intercalation, a process dependent on stable microtubules. Our findings demonstrate that Cep104 functions beyond cilia, playing a significant role in cytoplasmic microtubule dynamics, suggesting that both ciliary and non-ciliary roles are important for neurodevelopment and the pathogenesis of ciliopathies.

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