XB-ART-53678

J Cell Biol.
June 5, 2017;
216
(6):
1849-1864.
## Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

Schietroma C
,
Parain K
,
Estivalet A
,
Aghaie A
,
Boutet de Monvel J
,
Picaud S
,
Sahel JA
,
Perron M
,
El-Amraoui A
,
Petit C
.

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.

PubMed ID: 28495838

PMC ID: PMC5461027

Article link: J Cell Biol.

Genes referenced: cdh23 myo7a pcdh15 ush1c ush1g

Morpholinos referenced: cdh23 MO1 cdh23 MO2 cdh23 MO3 myo7a MO1 pcdh15 MO1 pcdh15 MO2 pcdh15 MO3 pcdh15 MO4 ush1c MO1 ush1g MO1

Article Images: [+] show captions

References:

Adato, 2005, Pubmed
[-]

Ahmed, 2001, Pubmed

Alagramam, 2007, Pubmed

Alagramam, 2001, Pubmed

Bahloul, 2010, Pubmed

Bibb, 1974, Pubmed

Bitner-Glindzicz, 2000, Pubmed

Boesze-Battaglia, 2002, Pubmed

Bolz, 2001, Pubmed

Bonilha, 2000, Pubmed

Bork, 2001, Pubmed

Boëda, 2002, Pubmed

Caberlotto, 2011, Pubmed

Chang, 1998, Pubmed, Xenbase

Corless, 2012, Pubmed, Xenbase

Crawley, 2014, Pubmed

Crawley, 2016, Pubmed

Dong, 2009, Pubmed, Xenbase

Dosé, 2003, Pubmed

Eckmiller, 2004, Pubmed

Eckmiller, 2001, Pubmed, Xenbase

El-Amraoui, 2014, Pubmed

Evans, 1993, Pubmed

Flores-Guevara, 2009, Pubmed

Furness, 1985, Pubmed

Gale, 2001, Pubmed

Germroth, 1995, Pubmed

Gillespie, 2004, Pubmed

Goldberg, 2006, Pubmed, Xenbase

Goodyear, 2010, Pubmed

Hanaichi, 1987, Pubmed

Hirsch, 2002, Pubmed, Xenbase

Hollyfield, 1974, Pubmed

Indzhykulian, 2013, Pubmed

James-Zorn, 2015, Pubmed, Xenbase

Jaramillo, 1993, Pubmed

Kazmierczak, 2007, Pubmed

Lagziel, 2005, Pubmed, Xenbase

Larraín, 2001, Pubmed, Xenbase

Lefèvre, 2008, Pubmed

MOLLENHAUER, 1964, Pubmed

Maeda, 2014, Pubmed

Malm, 2011, Pubmed

Malm, 2011, Pubmed

Marcy, 2004, Pubmed

Mathur, 2015, Pubmed

Michel, 2005, Pubmed

Miloudi, 2015, Pubmed

Moreau-Fauvarque, 2003, Pubmed

Naka, 1966, Pubmed

Nawrot, 2004, Pubmed

Pepermans, 2014, Pubmed

Prost, 2007, Pubmed

Ren, 2009, Pubmed

Riazuddin, 2012, Pubmed

Richardson, 2011, Pubmed

Safieddine, 2012, Pubmed

Sahly, 2012, Pubmed

Seiler, 2005, Pubmed

Siemens, 2002, Pubmed

Sindelka, 2006, Pubmed, Xenbase

Sotomayor, 2012, Pubmed

Steinberg, 1980, Pubmed

Stiemke, 1994, Pubmed, Xenbase

Stuck, 2016, Pubmed

Szikra, 2014, Pubmed

Söllner, 2004, Pubmed

Takahashi, 2016, Pubmed

Verpy, 2000, Pubmed

Volland, 2015, Pubmed

Weil, 1995, Pubmed

Weil, 2003, Pubmed

Williams, 2008, Pubmed

Wilson, 2009, Pubmed

Witkovsky, 2000, Pubmed, Xenbase

Young, 1967, Pubmed

Ahmed, 2001, Pubmed

Alagramam, 2007, Pubmed

Alagramam, 2001, Pubmed

Bahloul, 2010, Pubmed

Bibb, 1974, Pubmed

Bitner-Glindzicz, 2000, Pubmed

Boesze-Battaglia, 2002, Pubmed

Bolz, 2001, Pubmed

Bonilha, 2000, Pubmed

Bork, 2001, Pubmed

Boëda, 2002, Pubmed

Caberlotto, 2011, Pubmed

Chang, 1998, Pubmed, Xenbase

Corless, 2012, Pubmed, Xenbase

Crawley, 2014, Pubmed

Crawley, 2016, Pubmed

Dong, 2009, Pubmed, Xenbase

Dosé, 2003, Pubmed

Eckmiller, 2004, Pubmed

Eckmiller, 2001, Pubmed, Xenbase

El-Amraoui, 2014, Pubmed

Evans, 1993, Pubmed

Flores-Guevara, 2009, Pubmed

Furness, 1985, Pubmed

Gale, 2001, Pubmed

Germroth, 1995, Pubmed

Gillespie, 2004, Pubmed

Goldberg, 2006, Pubmed, Xenbase

Goodyear, 2010, Pubmed

Hanaichi, 1987, Pubmed

Hirsch, 2002, Pubmed, Xenbase

Hollyfield, 1974, Pubmed

Indzhykulian, 2013, Pubmed

James-Zorn, 2015, Pubmed, Xenbase

Jaramillo, 1993, Pubmed

Kazmierczak, 2007, Pubmed

Lagziel, 2005, Pubmed, Xenbase

Larraín, 2001, Pubmed, Xenbase

Lefèvre, 2008, Pubmed

MOLLENHAUER, 1964, Pubmed

Maeda, 2014, Pubmed

Malm, 2011, Pubmed

Malm, 2011, Pubmed

Marcy, 2004, Pubmed

Mathur, 2015, Pubmed

Michel, 2005, Pubmed

Miloudi, 2015, Pubmed

Moreau-Fauvarque, 2003, Pubmed

Naka, 1966, Pubmed

Nawrot, 2004, Pubmed

Pepermans, 2014, Pubmed

Prost, 2007, Pubmed

Ren, 2009, Pubmed

Riazuddin, 2012, Pubmed

Richardson, 2011, Pubmed

Safieddine, 2012, Pubmed

Sahly, 2012, Pubmed

Seiler, 2005, Pubmed

Siemens, 2002, Pubmed

Sindelka, 2006, Pubmed, Xenbase

Sotomayor, 2012, Pubmed

Steinberg, 1980, Pubmed

Stiemke, 1994, Pubmed, Xenbase

Stuck, 2016, Pubmed

Szikra, 2014, Pubmed

Söllner, 2004, Pubmed

Takahashi, 2016, Pubmed

Verpy, 2000, Pubmed

Volland, 2015, Pubmed

Weil, 1995, Pubmed

Weil, 2003, Pubmed

Williams, 2008, Pubmed

Wilson, 2009, Pubmed

Witkovsky, 2000, Pubmed, Xenbase

Young, 1967, Pubmed