Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment - Institut Pasteur Access content directly
Journal Articles Journal of Cell Biology Year : 2017

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

Aziz El-Amraoui

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.
Fichier principal
Vignette du fichier
Schrietroma_2017.pdf (3.87 Mo) Télécharger le fichier
Origin : Publication funded by an institution
Loading...

Dates and versions

pasteur-01534475 , version 1 (07-06-2017)

Licence

Attribution - NonCommercial - ShareAlike

Identifiers

Cite

Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, et al.. Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment. Journal of Cell Biology, 2017, 216 (6), pp.1849 - 1864. ⟨10.1083/jcb.201612030⟩. ⟨pasteur-01534475⟩
1187 View
438 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More