Journal
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
Volume 110, Issue -, Pages 70-88Publisher
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2020.07.013
Keywords
Sensory cilia; Ciliogenesis; Photoreceptor; Retinal degeneration; CEP290; Intracellular transport
Categories
Funding
- National Eye Institute Intramural Research Program [ZIAEY000450, ZIAEY000474, ZIAEY000490, ZIAEY000546]
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The primary cilium is a microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues; ciliopathies are a spectrum of clinical entities caused by aberrant ciliogenesis or ciliary transport, leading to overlapping yet highly variable phenotypes; dysfunction and degeneration of light sensing photoreceptors in the retina are highly penetrant in ciliopathies.
The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues. The cilium originates from the mother centriole through a complex set of cellular events requiring hundreds of distinct components. Aberrant ciliogenesis or ciliary transport leads to a broad spectrum of clinical entities with overlapping yet highly variable phenotypes, collectively called ciliopathies, which include sensory defects and syndromic disorders with multi-organ pathologies. For efficient light detection, photoreceptors in the retina elaborate a modified cilium known as the outer segment, which is packed with membranous discs enriched for components of the phototransduction machinery. Retinopathy phenotype involves dysfunction and/or degeneration of the light sensing photoreceptors and is highly penetrant in ciliopathies. This review will discuss primary cilia biogenesis and ciliopathies, with a focus on the retina, and the role of CP110-CEP290-CC2D2A network. We will also explore how recent technologies can advance our understanding of cilia biology and discuss new paradigms for developing potential therapies of retinal ciliopathies.
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