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

The Journal of Cell Biology
Cataldo SchietromaChristine Petit

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 inXenopus 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 ofCdh23, 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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Citations

Jul 18, 2018·Current Eye Research·Anne KurtenbachEberhart Zrenner
Aug 30, 2017·Cold Spring Harbor Perspectives in Biology·Avinash JaiganeshMarcos Sotomayor
Nov 23, 2019·Ophthalmic Genetics·Moreno MenghiniRobert E MacLaren
Jul 4, 2019·Documenta Ophthalmologica. Advances in Ophthalmology·Katarina StinglEberhart Zrenner
Mar 27, 2020·The Journal of Biological Chemistry·Myoung Soo ChoiScott W Crawley
Jul 15, 2017·Proceedings of the National Academy of Sciences of the United States of America·Baptiste Libé-PhilippotChristine Petit
Aug 1, 2020·Frontiers in Cellular Neuroscience·Lucy S FrenchLivia S Carvalho
Mar 16, 2021·Frontiers in Cell and Developmental Biology·Joseph A CiriloChristopher M Yengo
Apr 16, 2021·BMC Bioinformatics·Baptiste Colcombet-CazenaveNicolas Wolff
May 19, 2021·Orphanet Journal of Rare Diseases·Ana B Garcia-DelgadoBerta de la Cerda
Jul 3, 2021·International Journal of Molecular Sciences·Carla Fuster-GarcíaGema García-García
Mar 23, 2020·Hearing Research·Gwenaelle G S Géléoc, Aziz El-Amraoui
Sep 30, 2021·International Ophthalmology Clinics·Astra DinculescuDavid A Saperstein
Oct 31, 2020·Experimental Eye Research·Lyes ToualbiMariya Moosajee

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Methods Mentioned

BETA
antisense oligonucleotides
transmission electron microscopy
scanning electron microscopy
electrophoresis
PCR

Software Mentioned

Photoshop CS3
MC Rack
Matlab
Xenbase
MathWorks
DOG
GraphPad Prism
ImageJ
GeneTools
OceanView

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