Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F23%3A00580417" target="_blank" >RIV/67985904:_____/23:00580417 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/23:00132103 RIV/00216305:26620/23:PU149216
Result on the web
<a href="https://www.life-science-alliance.org/content/6/12/e202302073" target="_blank" >https://www.life-science-alliance.org/content/6/12/e202302073</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.26508/lsa.202302073" target="_blank" >10.26508/lsa.202302073</a>

Result language
angličtina
Original language name
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
Original language description
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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10605 - Developmental biology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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