# Developmental disruptions underlying brain abnormalities in ciliopathies

## TL;DR

This paper explores how disruptions in primary cilia function during brain development lead to brain abnormalities in ciliopathies.

## Contribution

The study identifies specific roles of ciliopathy genes in mouse cortical development and links these to brain abnormalities in ciliopathies.

## Key findings

- Ciliopathy genes affect key stages of mouse cortical development, including progenitor development and neuronal migration.
- Disrupted developmental events are directly linked to brain abnormalities observed in ciliopathies.
- The study provides insights into the functions of ciliopathy genes in corticogenesis.

## Abstract

Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium. The significance of cilia function for brain development and function is evident in the plethora of developmental brain disorders associated with human ciliopathies. Nevertheless, the role of primary cilia function in corticogenesis remains largely unknown. Here we delineate the functions of primary cilia in the construction of cerebral cortex and their relevance to ciliopathies, using a shRNA library targeting ciliopathy genes known to cause brain disorders, but whose roles in brain development are unclear. We used the library to query how ciliopathy genes affect distinct stages of mouse cortical development, in particular neural progenitor development, neuronal migration, neuronal differentiation, and early neuronal connectivity. Our results define the developmental functions of ciliopathy genes and delineate disrupted developmental events that are integrally related to the emergence of brain abnormalities in ciliopathies.