Schietroma, C;
Parain, K;
Estivalet, A;
Aghaie, A;
Boutet de Monvel, J;
Picaud, S;
Sahel, J-A;
... Petit, C; + view all
(2017)
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
J Cell Biol
, 216
(6)
pp. 1849-1864.
10.1083/jcb.201612030.
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Abstract
Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments. Rod basal outer disks displayed excessive outgrowth, and cone outer segments were curved, with lamellae of heterogeneous sizes, defects also observed upon knockdown of Cdh23, encoding cadherin-23 (USH1D protein). The calyceal processes were virtually absent in cones and displayed markedly reduced F-actin content in rods, suggesting that protocadherin-15-containing links are essential for their development and/or maintenance. We propose that calyceal processes, together with their associated links, control the sizing of rod disks and cone lamellae throughout their daily renewal.
| Type: | Article |
|---|---|
| Title: | Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1083/jcb.201612030 |
| Publisher version: | http://doi.org/10.1083/jcb.201612030 |
| Language: | English |
| Additional information: | This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/). |
| Keywords: | Actin Cytoskeleton, Animals, Cadherins, Gene Expression Regulation, Developmental, Gene Knockdown Techniques, Larva, Retinal Cone Photoreceptor Cells, Retinal Photoreceptor Cell Outer Segment, Rod Cell Outer Segment, Usher Syndromes, Xenopus, Xenopus Proteins |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10054218 |
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