Ciliary Gate and Ciliopathies

Unlike other cellular organelles, the ciliary lumen is open to the cytoplasm. Mounting evidence suggests that gating mechanisms regulate the selective ciliary entry of membrane and soluble proteins, whose coordinated function makes the cilium a distinct functional entity.

Most known ciliopathy proteins localize to cilia basal structures but not cilia proper, hinting the importance of cilia gating. Dr. Hu's team is one of the first labs to show that transition fibers (TFs), the poorly characterized cilia basal structures, are a critical part of the ciliary gate to regulate the ciliary import of both membrane and soluble proteins. Disrupted cilia gating leads to defective ciliogenesis, cilia signaling, and human and mouse ciliopathies. Dr. Hu's team is studying the role of TFs in the context of cilia function and pathogenesis ARLs in ciliopathies and aims to devise means to modulate cilia function by adjusting the gating.