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Humans, Osteogenesis, Cilia, Ciliopathies, Embryonic Development, Cell Differentiation

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Development. 2023;150(8):dev201237.







Research was supported by the National Institute of General Medical Sciences (R01 GM124251 to K.A.P.), the National Institutes of Health Office of the Director (UM1 OD023222 to S.A.M.) and the National Institute of Dental and Craniofacial Research (R35 DE027557 to S.A.B.; R01 DE031750 to K.A.P. and S.A.B.). Open access funding provided by the National Institutes of Health. Deposited in PMC for immediate release.


Primary cilia are nearly ubiquitous organelles that transduce molecular and mechanical signals. Although the basic structure of the cilium and the cadre of genes that contribute to ciliary formation and function (the ciliome) are believed to be evolutionarily conserved, the presentation of ciliopathies with narrow, tissue-specific phenotypes and distinct molecular readouts suggests that an unappreciated heterogeneity exists within this organelle. Here, we provide a searchable transcriptomic resource for a curated primary ciliome, detailing various subgroups of differentially expressed genes within the ciliome that display tissue and temporal specificity. Genes within the differentially expressed ciliome exhibited a lower level of functional constraint across species, suggesting organism and cell-specific function adaptation. The biological relevance of ciliary heterogeneity was functionally validated by using Cas9 gene-editing to disrupt ciliary genes that displayed dynamic gene expression profiles during osteogenic differentiation of multipotent neural crest cells. Collectively, this novel primary cilia-focused resource will allow researchers to explore longstanding questions related to how tissue and cell-type specific functions and ciliary heterogeneity may contribute to the range of phenotypes associated with ciliopathies.


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