Preprint: CRISPR-edited cell lines reveal transcriptional programmes dependent on ciliary ARL13B localisation

Researchers have posted a preprint to bioRxiv describing a transcriptomic study of primary cilia biology using CRISPR-edited cell lines harbouring the ARL13BV358A variant. ARL13B is a regulatory GTPase enriched in primary cilia, structures that coordinate key developmental and homeostatic signalling pathways. Disruption of ciliary proteins causes a family of conditions collectively termed ciliopathies, which include disorders affecting the kidneys, eyes, and central nervous system.

The ARL13BV358A variant is notable because, despite retaining known biochemical activities, the protein is absent from cilia. This makes it a precise tool for separating the functions of ciliary ARL13B localisation from its broader biochemical roles. By comparing transcriptomes across multiple independently generated CRISPR-edited lines — a design choice that helps distinguish variant-specific effects from off-target editing artefacts — the authors map gene-expression changes attributable specifically to loss of ARL13B from the ciliary compartment.

The work contributes to a growing body of research attempting to define the downstream transcriptional consequences of disrupted ciliary protein localisation, a question that remains poorly characterised despite the clinical importance of ciliopathies. Because this is a preprint posted to bioRxiv, it has not yet undergone peer review and findings should be interpreted accordingly.