biostudies-literatureYamaguchi HNIDCR NIH HHSNIDDK NIH HHS151063https://www.ebi.ac.uk/biostudies/studies/S-EPMC12011135biostudies-literatureUnknown741The primary cilium is a cellular antenna to orchestrate cell growth and differentiation. Deficient or dysfunctional cilia are frequently linked to skeletal abnormalities. Previous research demonstrated that ciliary proteins regulating axoneme elongation are essential for skeletogenesis. However, the role of the ciliary proteins responsible for initiating cilium assembly in skeletal development remains unknown. Here, we investigate the function of centrosomal protein of 164 kDa (CEP164), a key ciliogenesis regulator that localizes at the distal appendages of the mother centriole, during skeletal development in mice. Interestingly, the mesodermal cell-specific Cep164 deletion resulted in severe bone defects and osteoblast-specific deletion of Cep164 affected bone development. In contrast, chBiochemical and biophysical research communicationsDisruption of distal appendage protein CEP164 causes skeletal malformation in mice.PMC12011135R01 DE025897R01 DK123641Komatsu YSwaminathan SKitami MTakemaru KIYamaguchi HDarabi RLi MfalseDisruption of distal appendage protein CEP164 causes skeletal malformation in mice.The primary cilium is a cellular antenna to orchestrate cell growth and differentiation. Deficient or dysfunctional cilia are frequently linked to skeletal abnormalities. Previous research demonstrated that ciliary proteins regulating axoneme elongation are essential for skeletogenesis. However, the role of the ciliary proteins responsible for initiating cilium assembly in skeletal development remains unknown. Here, we investigate the function of centrosomal protein of 164 kDa (CEP164), a key ciliogenesis regulator that localizes at the distal appendages of the mother centriole, during skeletal development in mice. Interestingly, the mesodermal cell-specific Cep164 deletion resulted in severe bone defects and osteoblast-specific deletion of Cep164 affected bone development. In contrast, ch2024-01-01T00:00:00Z2024 Dec2026-06-06T19:48:49.59Z2026-06-04T03:12:24.746ZS-EPMC120111353961264410.1016/j.bbrc.2024.151063