A mechanistic study of motile ciliopathy caused by RPGR defect

Abstract

The RPGR gene has been associated with both retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD). RPGR was initially discovered to be situated within the sensory cilia of photoreceptors. According to this finding, it had a function in linking the outer segment of the photoreceptor with the cell body. Later on, it was demonstrated that a certain group of people with RP also had PCD. The research findings suggest that mutations in the RPGR gene may be the causative cause for both RP and PCD. RPGR is highly likely to substantially impact both motile and non-motile cilia. However, it appears that RPGR may have distinct function s in each kind of cilia, and the isoforms it generates may change across various cells. This is because certain individuals with RPGR mutations are not predisposed to develop PCD. Our present knowledge of the relationship between RP and PCD in patients with RPGR mutations is limited. Here, we employ super-resolution microscopy to get improved accuracy, which overcomes the difficulty of cilia observation due to the structure size. With the utilisation of this technology, we possess the capacity to observe cilia with an unparalleled degree of accuracy. We illustrated the localization of RGPR proteins in both the multiciliated cells and cycling cells. We also explored the impact that RPGR defect may have on cells. Through all these experiments, we obtained a better understanding of the role RPGR plays in multiciliogenesis and regulation of PCD. We raised our hypothesis that this regulation was processed with the interaction of actin, which requires fu1ther verification.

Date of Award	2024
Original language	English
Awarding Institution	The Hong Kong University of Science and Technology
Supervisor	Zhen LIU (Supervisor)