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Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity

Title
Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
Authors
SeoSeungwoonSonnSeong KeunKweonHyae YonJinJingKumeTsutomuKoJe YeongParkJong HoonOhGoo Taeg
Ewha Authors
오구택서승운
SCOPUS Author ID
오구택scopus; 서승운scopusscopus
Issue Date
2024
Journal Title
Investigative ophthalmology & visual science
ISSN
1552-5783JCR Link
Citation
Investigative ophthalmology & visual science vol. 65, no. 3, pp. 30
Indexed
SCOPUS scopus
Document Type
Article
Abstract
Purpose: Intraflagellar transport 46 (IFT46) is an integral subunit of the IFT-B complex, playing a key role in the assembly and maintenance of primary cilia responsible for transducing signaling pathways. Despite its predominant expression in the basal body of cilia, the precise role of Ift46 in ocular development remains undetermined. This study aimed to elucidate the impact of neural crest (NC)-specific deletion of Ift46 on ocular development. Methods: NC-specific conditional knockout mice for Ift46 (NC-Ift46F/F) were generated by crossing Ift46F mice with Wnt1-Cre2 mice, enabling the specific deletion of Ift46 in NC-derived cells (NCCs). Sonic Hedgehog (Shh) and Notch signaling activities in NC-Ift46F/F mice were evaluated using Gli1lacZ and CBF:H2B-Venus reporter mice, respectively. Cell fate mapping was conducted using ROSAmTmG reporter mice. Results: The deletion of Ift46 in NCCs resulted in a spectrum of ocular abnormalities, including thickened corneal stroma, hypoplasia of the anterior chamber, irregular iris morphology, and corneal neovascularization. Notably, this deletion led to reduced Shh signal activity in the periocular mesenchyme, sustained expression of key transcription factors Foxc1, Foxc2 and Pitx2, along with persistent cell proliferation. Additionally, it induced increased Notch signaling activity and the development of ectopic neovascularization within the corneal stroma. Conclusions: The absence of primary cilia due to Ift46 deficiency in NCCs is associated with anterior segment dysgenesis (ASD) and corneal neovascularization, suggesting a potential link to Axenfeld-Rieger syndrome, a disorder characterized by ASD. This underscores the pivotal role of primary cilia in ensuring proper anterior segment development and maintaining an avascular cornea.
DOI
10.1167/iovs.65.3.30
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자연과학대학 > 생명과학전공 > Journal papers
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