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Published on: February 21, 2016
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
Marija Dubaic1,2, Lucie Peskova3, Marek Hampl1,2
1Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
Abstract:
Primary cilia are cellular surface projections enriched in receptors and signaling molecules, acting as signaling hubs that respond to stimuli. Malfunctions in primary cilia have been linked to human diseases, including retinopathies and ocular defects. Here, we focus on TMEM107, a protein localized to the transition zone of primary cilia. TMEM107 mutations were found in patients with Joubert and Meckel-Gruber syndromes. A mouse model lacking Tmem107 exhibited eye defects such as anophthalmia and microphthalmia, affecting retina differentiation. Tmem107 expression during prenatal mouse development correlated with phenotype occurrence, with enhanced expression in differentiating retina and optic stalk. TMEM107 deficiency in retinal organoids resulted in the loss of primary cilia, down-regulation of retina-specific genes, and cyst formation. Knocking out TMEM107 in human ARPE-19 cells prevented primary cilia formation and impaired response to Smoothened agonist treatment because of ectopic activation of the SHH pathway. Our data suggest TMEM107 plays a crucial role in early vertebrate eye development and ciliogenesis in the differentiating retina.
Insights
TMEM107 protein is essential for primary cilia formation and function in developing retinas. Its deficiency causes severe eye defects and impacts retinal development, highlighting its role in ciliogenesis.
Area of Science:
- Cell Biology
- Developmental Biology
- Ophthalmology
Background:
- Primary cilia are critical signaling hubs involved in cellular processes.
- Ciliary dysfunction is implicated in various human diseases, including ocular defects.
- TMEM107 is a protein localized to the primary cilia transition zone, with mutations linked to developmental disorders.
Purpose of the Study:
- To investigate the role of TMEM107 in vertebrate eye development.
- To understand the function of TMEM107 in retinal ciliogenesis and differentiation.
- To explore the impact of TMEM107 deficiency on the SHH signaling pathway.
Main Methods:
- Analysis of a mouse model lacking Tmem107.
- Generation and study of retinal organoids from Tmem107-deficient mice.
- In vitro studies using human ARPE-19 cells with TMEM107 knockout.
- Assessment of primary cilia formation, gene expression, and signaling pathway activation.
Main Results:
- Tmem107 deficiency in mice led to severe eye defects (anophthalmia, microphthalmia) and impaired retina differentiation.
- TMEM107 deficiency in retinal organoids resulted in loss of primary cilia, reduced retina-specific gene expression, and cyst formation.
- TMEM107 knockout in ARPE-19 cells inhibited primary cilia formation and disrupted SHH pathway signaling.
- Tmem107 expression levels correlated with ocular phenotype severity during prenatal development.
Conclusions:
- TMEM107 is crucial for proper eye development in vertebrates.
- The protein plays a vital role in ciliogenesis within the differentiating retina.
- TMEM107 is essential for maintaining primary cilia integrity and SHH pathway regulation in retinal cells.
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