RNU4ATAC

Cilia effects upon perturbation of RNU4ATAC

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Abnormal / altered cilia

Ciliopathy associations

• Joubert Syndrome
• Skeletal Ciliopathy

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the RNU4ATAC gene cause Joubert Syndrome. Regarding ciliogenesis, we analyzed the percentage of ciliated cells and cilium length, based on immunostainings of cilia with an antibody anti-Arl13b, which revealed slight ciliogenesis alterations in the TALS cell line but not in P1 patient cells Hence, altogether, these results indicate that loss of U4atac function impairs primary cilium function (AC3-dependant cAMP signaling, Hh) rather than cilium formation. This could be explained by the fact that six U12 genes encode components of the transition zone, an essential filter barrier that controls the entry and exit of ciliary proteins in and out of the cilium. (PMID: 36802443).