Journal
JOURNAL OF CELL BIOLOGY
Volume 216, Issue 6, Pages 1849-1864Publisher
ROCKEFELLER UNIV PRESS
DOI: 10.1083/jcb.201612030
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Funding
- FAUN Stiftung (Suchert Foundation)
- LHW-Stiftung, Retina France
- European Research Council [ERC-2011-AdG 294570]
- European Union [HEALTH-F2-2010-242013]
- French Agence Nationale pour la Recherche as part of the second Investissements d'Avenir program [ANR-15-RHUS-0001]
- LabEx Lifesenses [ANR-10-LABX-65]
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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.
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