Primary cilia in nervous system development

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Project Description

Primary cilia are antenna-like structures projecting off polarized cell surfaces. In humans, many different cell types are ciliated, including neurons, where cilia represent an extra-synaptic signaling hub. Ciliopathies are characterized by defective cilia and comprise various disease states, including brain phenotypes. The biological pathways behind these brain phenotypes are largely unknown. We established the first human neuronal ciliated model (LUHMES) where cilia can be investigated in proliferating neuronal progenitor cells, differentiating neurons and mature differentiated neurons. Moreover, we generated mutation in the ciliogenic transcription factor RFX2, leading to shorter (and potentially less functional) cilia.

Tags: Fluorescence microscopy, Cell analysis