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ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed for phototransduction and vision. Though ciliary formation and function has been well characterized, little is known about the role of cilia...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The American Society for Cell Biology
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080659/ https://www.ncbi.nlm.nih.gov/pubmed/29718757 http://dx.doi.org/10.1091/mbc.E18-01-0040 |
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author | Moye, Abigail R. Singh, Ratnesh Kimler, Victoria A. Dilan, Tanya L. Munezero, Daniella Saravanan, Thamaraiselvi Goldberg, Andrew F. X. Ramamurthy, Visvanathan |
author_facet | Moye, Abigail R. Singh, Ratnesh Kimler, Victoria A. Dilan, Tanya L. Munezero, Daniella Saravanan, Thamaraiselvi Goldberg, Andrew F. X. Ramamurthy, Visvanathan |
author_sort | Moye, Abigail R. |
collection | PubMed |
description | The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed for phototransduction and vision. Though ciliary formation and function has been well characterized, little is known about the role of cilia in the development of photoreceptor OS. Nevertheless, progress has been made by studying mutations in ciliary proteins, which often result in malformed OSs and lead to blinding diseases. To investigate how ciliary proteins contribute to OS formation, we generated a knockout (KO) mouse model for ARL2BP, a ciliary protein linked to retinitis pigmentosa. The KO mice display an early and progressive reduction in visual response. Before photoreceptor degeneration, we observed disorganization of the photoreceptor OS, with vertically aligned disks and shortened axonemes. Interestingly, ciliary doublet microtubule (MT) structure was also impaired, displaying open B-tubule doublets, paired with loss of singlet MTs. On the basis of results from this study, we conclude that ARL2BP is necessary for photoreceptor ciliary doublet formation and axoneme elongation, which is required for OS morphogenesis and vision. |
format | Online Article Text |
id | pubmed-6080659 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | The American Society for Cell Biology |
record_format | MEDLINE/PubMed |
spelling | pubmed-60806592018-09-16 ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure Moye, Abigail R. Singh, Ratnesh Kimler, Victoria A. Dilan, Tanya L. Munezero, Daniella Saravanan, Thamaraiselvi Goldberg, Andrew F. X. Ramamurthy, Visvanathan Mol Biol Cell Articles The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed for phototransduction and vision. Though ciliary formation and function has been well characterized, little is known about the role of cilia in the development of photoreceptor OS. Nevertheless, progress has been made by studying mutations in ciliary proteins, which often result in malformed OSs and lead to blinding diseases. To investigate how ciliary proteins contribute to OS formation, we generated a knockout (KO) mouse model for ARL2BP, a ciliary protein linked to retinitis pigmentosa. The KO mice display an early and progressive reduction in visual response. Before photoreceptor degeneration, we observed disorganization of the photoreceptor OS, with vertically aligned disks and shortened axonemes. Interestingly, ciliary doublet microtubule (MT) structure was also impaired, displaying open B-tubule doublets, paired with loss of singlet MTs. On the basis of results from this study, we conclude that ARL2BP is necessary for photoreceptor ciliary doublet formation and axoneme elongation, which is required for OS morphogenesis and vision. The American Society for Cell Biology 2018-07-01 /pmc/articles/PMC6080659/ /pubmed/29718757 http://dx.doi.org/10.1091/mbc.E18-01-0040 Text en © 2018 Moye et al. “ASCB®,” “The American Society for Cell Biology®,” and “Molecular Biology of the Cell®” are registered trademarks of The American Society for Cell Biology. http://creativecommons.org/licenses/by-nc-sa/3.0 This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License. |
spellingShingle | Articles Moye, Abigail R. Singh, Ratnesh Kimler, Victoria A. Dilan, Tanya L. Munezero, Daniella Saravanan, Thamaraiselvi Goldberg, Andrew F. X. Ramamurthy, Visvanathan ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title | ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title_full | ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title_fullStr | ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title_full_unstemmed | ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title_short | ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
title_sort | arl2bp, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080659/ https://www.ncbi.nlm.nih.gov/pubmed/29718757 http://dx.doi.org/10.1091/mbc.E18-01-0040 |
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