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

Abstract

Primary cilia, enriched in receptors and signaling molecules, serve as vital signaling hubs responsive to stimuli and are implicated in human diseases like retinopathies. TMEM107, localized to the transition zone of primary cilia, is linked to conditions such as Joubert and Meckel–Gruber syndromes, and its deficiency hinders cilia formation and early vertebrate eye development in retinal organoids.Primary cilia, enriched in receptors and signaling molecules, serve as vital signaling hubs responsive to stimuli and are implicated in human diseases like retinopathies. TMEM107, localized to the transition zone of primary cilia, is linked to conditions such as Joubert and Meckel–Gruber syndromes, and its deficiency hinders cilia formation and early vertebrate eye development in retinal organoids.