Primary cilia biogenesis and associated retinal ciliopathies

[Display omitted] 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...

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Published inSeminars in cell & developmental biology Vol. 110; pp. 70 - 88
Main Authors Chen, Holly Y., Kelley, Ryan A., Li, Tiansen, Swaroop, Anand
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.02.2021
Subjects
Animals
Antigens, Neoplasm - genetics
Antigens, Neoplasm - metabolism
Biological Transport
Cell Cycle Proteins - genetics
Cell Cycle Proteins - metabolism
Centrioles - metabolism
Centrioles - ultrastructure
CEP290
Cilia - metabolism
Cilia - ultrastructure
Ciliogenesis
Ciliopathies - genetics
Ciliopathies - metabolism
Ciliopathies - pathology
Cytoskeletal Proteins - genetics
Cytoskeletal Proteins - metabolism
Disease Models, Animal
Gene Expression Regulation
Humans
Intracellular transport
Light Signal Transduction
Mice
Microtubule-Associated Proteins - genetics
Microtubule-Associated Proteins - metabolism
Microtubules - metabolism
Microtubules - ultrastructure
Phosphoproteins - genetics
Phosphoproteins - metabolism
Photoreceptor
Photoreceptor Cells, Vertebrate - metabolism
Photoreceptor Cells, Vertebrate - pathology
Retinal degeneration
Retinal Degeneration - genetics
Retinal Degeneration - metabolism
Retinal Degeneration - pathology
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - metabolism
Retinitis Pigmentosa - pathology
Sensory cilia
TZ
Sensory cilia
CLS
SDA
BBS
MC
mTOR
JSRD
SLS
CEP290
Hh
iPSC
OMIM
IS
LCA
MEF
PCD
Cryo-ET
TGF
AV
AAV
GPCR
SEM
PCM
PTC
RP
BB
PCV
RPE
Photoreceptor
JS
IFT
PDGFR
Wnt
AON
CC
Intracellular transport
OS
STED
Ciliogenesis
sgRNAs
NPHP
FIB-SEM
STORM
TF
CV
MKS
Retinal degeneration
DA
TEM
DC
Online AccessGet full text

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Abstract [Display omitted] 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.
AbstractList 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.
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.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.
[Display omitted] 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.
Author Li, Tiansen
Kelley, Ryan A.
Chen, Holly Y.
Swaroop, Anand
Author_xml – sequence: 1
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IEDL.DBID .~1
ISSN 1084-9521
1096-3634
IngestDate Thu Aug 21 14:11:06 EDT 2025
Wed Jul 30 10:50:17 EDT 2025
Mon Jul 21 06:06:40 EDT 2025
Tue Jul 01 04:33:13 EDT 2025
Thu Apr 24 23:10:08 EDT 2025
Fri Feb 23 02:48:34 EST 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Keywords TZ
Sensory cilia
CLS
SDA
BBS
MC
mTOR
JSRD
SLS
CEP290
Hh
iPSC
OMIM
IS
LCA
MEF
PCD
Cryo-ET
TGF
AV
AAV
GPCR
SEM
PCM
PTC
RP
BB
PCV
RPE
Photoreceptor
JS
IFT
PDGFR
Wnt
AON
CC
Intracellular transport
OS
STED
Ciliogenesis
sgRNAs
NPHP
FIB-SEM
STORM
TF
CV
MKS
Retinal degeneration
DA
TEM
DC
Language English
License This is an open access article under the CC BY license.
Published by Elsevier Ltd.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/)
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PublicationTitle Seminars in cell & developmental biology
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Snippet [Display omitted] The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in...
The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell...
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SubjectTerms Animals
Antigens, Neoplasm - genetics
Antigens, Neoplasm - metabolism
Biological Transport
Cell Cycle Proteins - genetics
Cell Cycle Proteins - metabolism
Centrioles - metabolism
Centrioles - ultrastructure
CEP290
Cilia - metabolism
Cilia - ultrastructure
Ciliogenesis
Ciliopathies - genetics
Ciliopathies - metabolism
Ciliopathies - pathology
Cytoskeletal Proteins - genetics
Cytoskeletal Proteins - metabolism
Disease Models, Animal
Gene Expression Regulation
Humans
Intracellular transport
Light Signal Transduction
Mice
Microtubule-Associated Proteins - genetics
Microtubule-Associated Proteins - metabolism
Microtubules - metabolism
Microtubules - ultrastructure
Phosphoproteins - genetics
Phosphoproteins - metabolism
Photoreceptor
Photoreceptor Cells, Vertebrate - metabolism
Photoreceptor Cells, Vertebrate - pathology
Retinal degeneration
Retinal Degeneration - genetics
Retinal Degeneration - metabolism
Retinal Degeneration - pathology
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - metabolism
Retinitis Pigmentosa - pathology
Sensory cilia
Title Primary cilia biogenesis and associated retinal ciliopathies
URI https://dx.doi.org/10.1016/j.semcdb.2020.07.013
https://www.ncbi.nlm.nih.gov/pubmed/32747192
https://www.proquest.com/docview/2430370733
https://pubmed.ncbi.nlm.nih.gov/PMC7855621
Volume 110
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