The role of TMEM107 in craniofacial structures development

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Project Identification
GA21-05146S
Project Period
1/2021 - 12/2023
Investor / Pogramme / Project type
Czech Science Foundation
MU Faculty or unit
Faculty of Science
Cooperating Organization
Institute of Animal Physiology and Genetics of thr ASCR, v. v. i.
Vysoké učení technické v Brně/Středoevropský technologický institut

Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone acting as a key regulator of protein content and composition of the cilium. Mutations in TMEM107 were previously associated with human syndromes exhibiting a wide range of ciliopathic defects. In the proposed project, we will analyze the role of Tmem107 in craniofacial structures development with a special focus on eye and teeth. The project aims to examine craniofacial phenotype in Tmem107-deficient mice and to reveal cellular and molecular mechanisms underlying it. The direct role of Tmem107 in retinal differentiation will be assessed using 3D retinal organoids derived from human pluripotent stem cells and zebrafish model. Tmem107 protein involvement in primary cilia-dependent Hh signaling will be determined on molecular level in both selected models to closely investigate phenotypes associated with region-specific response of craniofacial structures to Tmem107 deficiency. Combination of different approaches will not only help us to understand processes, which are responsible for craniofacial defects initiation in animal and human patients, but also to specifically address the molecular pathways involved in Tmem107-asscociated ciliopathies.

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