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Updated: Jan 1, 2026

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development
Published on: March 25, 2022
Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development
Michal Pruski1,2,3,4,5, Ling Hu3,5, Cuiping Yang4
1Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, China.
Intraflagellar transport 172 (IFT172) is crucial for primary cilia function, impacting cell behavior and embryonic development. Mutations in IFT172 disrupt cilia, leading to developmental disorders and impaired cell signaling.
Area of Science:
- Cell Biology
- Developmental Biology
- Genetics
Background:
- Primary cilia are essential for translating extracellular signals into intracellular responses, regulating embryonic development and organ function.
- Intraflagellar transport (IFT) complexes maintain ciliary structure and function through bidirectional cargo transport.
- IFT172 mutations are linked to human diseases like Bardet-Biedl syndrome, but its precise role remains unclear.
Purpose of the Study:
- To investigate the function of IFT172 and primary cilia in cellular processes using a mouse model with an IFT172 mutation.
- To explore the role of IFT172 in brain development and neuronal migration.
Main Methods:
- Utilized the WIM cell line (Ift172 mutant mouse embryonic fibroblasts) to study ciliary function and cell behavior.
- Performed *in situ* hybridization to analyze Ift172 expression patterns in the mouse brain.
- Manipulated Ift172 expression *in vivo* in embryonic mouse brains to assess its impact on neural development.
Main Results:
- WIM cells exhibited ablated cilia and defects in directed migration, proliferation, and signaling.
- IFT172-deficient cells showed altered cell cycle progression and potential centrosome dysfunction.
- Ift172 demonstrated dynamic expression in the developing and adult mouse cortex, and its manipulation affected neural progenitor proliferation and neuronal migration.
Conclusions:
- IFT172 plays a critical role in fundamental biological processes, including cell physiology and brain development.
- Primary cilia are pivotal for regulating cell behavior and are essential for normal cerebral morphogenesis.
- Dysfunctional IFT172 and primary cilia contribute to developmental pathologies, underscoring their importance in human health.
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