Cilia in hereditary cerebral anomalies. (17th June 2019)

• Record Type: Journal Article
• Authors: Thomas, Sophie; Boutaud, Lucile; Reilly, Madeline Louise; Benmerah, Alexandre
• Is Part Of: Biology of the cell. Volume 111:Number 9(2019)
• Page Start: 217
• Page End: 231
• Publication Date: 2019-06-17
• Subjects: Brain/nervous system -- Cell cycle -- Centriole -- Development -- Microtubule; Cytology -- Periodicals; Electron microscopy -- Periodicals; 571.6
• DOI: 10.1111/boc.201900012
• Languages: English
• ISSNs: 0248-4900

Abstract

Abstract: Ciliopathies are complex genetic multi‐system disorders causally related to abnormal assembly or function of motile or non‐motile cilia. While most human cells possess a non‐motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC‐associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC‐associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly. Abstract : Review : Ciliopathies are complex genetic disorders linked to primary cilia dysfunction. Cerebral anomalies are one of the manifestations observed in ciliopathies, which have mainly been linked to defective Hedgehog signalling. Additionally, in neuron progenitors, ciliary disassembly controls the duration of the G1/S transition and, therefore, proliferative versus neurogenic divisions. Increased cilium length or defects in disassembly may also contribute to microcephaly by a loss of progenitors.