The role of transition zone protein---MKS1 in the primary cilium

• Main Authors: Chih-Hsin Feng, 馮芝昕
• Other Authors: Jin-Wu Tsai
• Format: Others
• Language: en_US
• Published: 2016
• Online Access: http://ndltd.ncl.edu.tw/handle/91711081092816645731

碩士 === 國立陽明大學 === 腦科學研究所 === 104 === The primary cilia is a highly conserved organelle which projects from the surface of virtually all cell types in the vertebrates. The cilium consists of a microtubule-based core structure known as the axoneme and is built on the basal body template derived from the centrosome. The transition zone of the primay cilium serves as a diffusion barrier to regulate ciliogenesis and receptor localization for key signaling events, such as sonic hedgehog (Shh) signaling. However its gating mechanism is poorly understood due to its tiny volume and complexity with a large number of molecules, including MKS1, TMEM67, TCTN2, CEP290, CEP164, and RPGRIP1L. Among them, mutations of MKS1 lead to severe syndromes of autosomal recessive ciliopathy, namely, Meckel Gruber syndrome (MKS) and Bardet-Biedl syndrome (BBS).