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

J 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.

Základní údaje

Originální název

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

Autoři

DUBAIC, Marija (688 Srbsko, domácí), Lucie PEŠKOVÁ (203 Česká republika, domácí), Marek HAMPL (203 Česká republika, domácí), Kamila WEISSOVÁ (203 Česká republika, domácí), Canan ÇELIKER (792 Turecko, domácí), Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA (203 Česká republika, domácí) a Marcela BUCHTOVÁ (203 Česká republika, garant, domácí)

Vydání

Life Science Alliance, Life Science Alliance LLC, 2023, 2575-1077

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.400 v roce 2022

Kód RIV

RIV/00216224:14310/23:00132103

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.26508/lsa.202302073

UT WoS

001094328500017

Klíčová slova anglicky

eye development; primary cilia; organoids; transmembrane protein

Štítky

14110517, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 12. 2023 10:31, Mgr. Marie Šípková, DiS.

Anotace

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.

Návaznosti

GA21-05146S, projekt VaV

Název: Úloha TMEM107 ve vývoji kraniofaciálních struktur

Investor: Grantová agentura ČR, The role of TMEM107 in craniofacial structures development

LM2023050, projekt VaV

Název: Národní infrastruktura pro biologické a medicínské zobrazování

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Czech BioImaging: Národní výzkumná infrastruktura pro biologické a medicínské zobrazování

NU22-07-00380, projekt VaV

Název: Aplikace retinálních buněk a organoidů ve funkční diagnostice a léčbě ztráty zraku u Bardet-Biedlova syndromu

Investor: Ministerstvo zdravotnictví ČR, Aplikace retinálních buněk a organoidů ve funkční diagnostice a léčbě ztráty zraku u Bardet-Biedlova syndromu, Podprogram 1 - standardní

Citovat

DUBAIC, Marija, Lucie PEŠKOVÁ, Marek HAMPL, Kamila WEISSOVÁ, Canan ÇELIKER, Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA a Marcela BUCHTOVÁ. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. Life Science Alliance. Life Science Alliance LLC, 2023, roč. 6, č. 12, s. 1-16. ISSN 2575-1077. Dostupné z: https://dx.doi.org/10.26508/lsa.202302073.

@article{2333477,
   author = {Dubaic, Marija and Pešková, Lucie and Hampl, Marek and Weissová, Kamila and Çeliker, Canan and Shylo, Natalia A. and Hruba, Eva and Kavkova, Michaela and Zikmund, Tomas and Weatherbee, Scott D and Kaiser, Jozef and Bárta, Tomáš and Buchtová, Marcela},
   article_number = {12},
   doi = {http://dx.doi.org/10.26508/lsa.202302073},
   keywords = {eye development; primary cilia; organoids; transmembrane protein},
   language = {eng},
   issn = {2575-1077},
   journal = {Life Science Alliance},
   title = {Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid},
   url = {https://doi.org/10.26508/lsa.202302073},
   volume = {6},
   year = {2023}
}

TY  - JOUR
ID  - 2333477
AU  - Dubaic, Marija - Pešková, Lucie - Hampl, Marek - Weissová, Kamila - Çeliker, Canan - Shylo, Natalia A. - Hruba, Eva - Kavkova, Michaela - Zikmund, Tomas - Weatherbee, Scott D - Kaiser, Jozef - Bárta, Tomáš - Buchtová, Marcela
PY  - 2023
TI  - Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
JF  - Life Science Alliance
VL  - 6
IS  - 12
SP  - 1-16
EP  - 1-16
PB  - Life Science Alliance LLC
SN  - 25751077
KW  - eye development
KW  - primary cilia
KW  - organoids
KW  - transmembrane protein
UR  - https://doi.org/10.26508/lsa.202302073
N2  - 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.
ER  -

DUBAIC, Marija, Lucie PEŠKOVÁ, Marek HAMPL, Kamila WEISSOVÁ, Canan $\backslash$C CELIKER, Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA a Marcela BUCHTOVÁ. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. \textit{Life Science Alliance}. Life Science Alliance LLC, 2023, roč.~6, č.~12, s.~1-16. ISSN~2575-1077. Dostupné z: https://dx.doi.org/10.26508/lsa.202302073.

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