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Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid.
Dubaic, Marija; Peskova, Lucie; Hampl, Marek; Weissova, Kamila; Celiker, Canan; Shylo, Natalia A; Hruba, Eva; Kavkova, Michaela; Zikmund, Tomas; Weatherbee, Scott D; Kaiser, Jozef; Barta, Tomas; Buchtova, Marcela.
Afiliación
  • Dubaic M; Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
  • Peskova L; https://ror.org/02j46qs45 Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Hampl M; https://ror.org/02j46qs45 Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Weissova K; Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
  • Celiker C; https://ror.org/02j46qs45 Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Shylo NA; Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
  • Hruba E; https://ror.org/02j46qs45 Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Kavkova M; https://ror.org/02j46qs45 Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Zikmund T; Department of Genetics, Yale University, School of Medicine, New Haven, CT, USA.
  • Weatherbee SD; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Kaiser J; Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic.
  • Barta T; https://ror.org/03613d656 CEITEC - Central European Institute of Technology, Brno University of Technology, Brno, Czech Republic.
  • Buchtova M; https://ror.org/03613d656 CEITEC - Central European Institute of Technology, Brno University of Technology, Brno, Czech Republic.
Life Sci Alliance ; 6(12)2023 12.
Article en En | MEDLINE | ID: mdl-37863656
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos de la Motilidad Ciliar / Enfermedades Renales Poliquísticas Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Life Sci Alliance Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Trastornos de la Motilidad Ciliar / Enfermedades Renales Poliquísticas Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Life Sci Alliance Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos