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A ciliopathy complex builds distal appendages to initiate ciliogenesis.

The Journal of cell biology (2021-07-10)
Dhivya Kumar, Addison Rains, Vicente Herranz-Pérez, Quanlong Lu, Xiaoyu Shi, Danielle L Swaney, Erica Stevenson, Nevan J Krogan, Bo Huang, Christopher Westlake, Jose Manuel Garcia-Verdugo, Bradley K Yoder, Jeremy F Reiter
ABSTRACT

Cells inherit two centrioles, the older of which is uniquely capable of generating a cilium. Using proteomics and superresolved imaging, we identify a module that we term DISCO (distal centriole complex). The DISCO components CEP90, MNR, and OFD1 underlie human ciliopathies. This complex localizes to both distal centrioles and centriolar satellites, proteinaceous granules surrounding centrioles. Cells and mice lacking CEP90 or MNR do not generate cilia, fail to assemble distal appendages, and do not transduce Hedgehog signals. Disrupting the satellite pools does not affect distal appendage assembly, indicating that it is the centriolar populations of MNR and CEP90 that are critical for ciliogenesis. CEP90 recruits the most proximal known distal appendage component, CEP83, to root distal appendage formation, an early step in ciliogenesis. In addition, MNR, but not CEP90, restricts centriolar length by recruiting OFD1. We conclude that DISCO acts at the distal centriole to support ciliogenesis by restraining centriole length and assembling distal appendages, defects in which cause human ciliopathies.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Nocodazole Ready Made Solution, 5 mg/mL, DMSO solution
Sigma-Aldrich
Gelatin solution, Type B, 2% in H2O, tissue culture grade, BioReagent, suitable for cell culture