Detailed Information on Publication Record
2023
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
DUBAIC, Marija, Lucie PEŠKOVÁ, Marek HAMPL, Kamila WEISSOVÁ, Canan ÇELIKER et. al.Basic information
Original name
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
Authors
DUBAIC, Marija (688 Serbia, belonging to the institution), Lucie PEŠKOVÁ (203 Czech Republic, belonging to the institution), Marek HAMPL (203 Czech Republic, belonging to the institution), Kamila WEISSOVÁ (203 Czech Republic, belonging to the institution), Canan ÇELIKER (792 Turkey, belonging to the institution), Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA (203 Czech Republic, belonging to the institution) and Marcela BUCHTOVÁ (203 Czech Republic, guarantor, belonging to the institution)
Edition
Life Science Alliance, Life Science Alliance LLC, 2023, 2575-1077
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
10603 Genetics and heredity
Country of publisher
United States of America
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
Impact factor
Impact factor: 4.400 in 2022
RIV identification code
RIV/00216224:14310/23:00132103
Organization unit
Faculty of Science
UT WoS
001094328500017
Keywords in English
eye development; primary cilia; organoids; transmembrane protein
Tags
International impact, Reviewed
Změněno: 5/12/2023 10:31, Mgr. Marie Šípková, DiS.
Abstract
V originále
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.
Links
GA21-05146S, research and development project |
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LM2023050, research and development project |
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NU22-07-00380, research and development project |
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