Mutations in the retinitis pigmentosa GTPase regulator (RPGR) protein cause one of the most common and severe forms of inherited retinal dystrophy. In spite of numerous studies, the precise function of RPGR remains unclear, as is the mechanism by which RPGR mutations cause retinal degeneration. We have analysed the function of RPGR by RNA interference-mediated translational suppression [knockdown (KD)] using a model cellular system for studying the formation, maintenance and function of primary cilia (human telomerase-immortalized retinal pigmented epithelium 1 cells).
- cilia formation
- inherited retinal dystrophy
- gene mutations
Gakovic, M., Shu, X., Kasioulis, I., Carpanini, S., Moraga, I., & Wright, A. F. (2011). The role of RPGR in cilia formation and actin stability. Human Molecular Genetics, 20(24), 4840-4850. https://doi.org/10.1093/hmg/ddr423