Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Institute: MPI für molekulare Zellbiologie und Genetik     Collection: Publikationen MPI-CBG 2008     Display Documents



ID: 414370.0, MPI für molekulare Zellbiologie und Genetik / Publikationen MPI-CBG 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Authors:Yang, Zhenglin; Chen, Yali; Lillo, Concepcion; Chien, Jeremy; Yu, Zhengya; Michaelides, Michel; Klein, Martin; Howes, Kim A; Li, Yang; Kaminoh, Yuuki; Chen, Haoyu; Zhao, Chao; Chen, Yuhong; Al-Sheikh, Youssef Tawfik; Karan, Goutam; Corbeil, Denis; Escher, Pascal; Kamaya, Shin; Li, Chunmei; Johnson, Samantha; Frederick, Jeanne M; Zhao, Yu; Wang, Changguan; Cameron, D Joshua; Huttner, Wieland B; Schorderet, Daniel F; Munier, Frances L; Moore, Anthony T; Birch, David G; Baehr, Wolfgang; Hunt, David M; Williams, David S; Zhang, Kang
Date of Publication (YYYY-MM-DD):2008
Title of Journal:Journal of Clinical Investigation
Volume:118
Issue / Number:8
Start Page:2908
End Page:2916
Copyright:not available
Audience:Experts Only
Intended Educational Use:No
Abstract / Description:Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized. Moreover, the outer segment disk membranes were greatly overgrown and misoriented, indicating defective disk morphogenesis. Immunoprecipitation studies showed that PROM1 interacted with protocadherin 21 (PCDH21), a photoreceptor-specific cadherin, and with actin filaments, both of which play critical roles in disk membrane morphogenesis. Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration.
External Publication Status:published
Document Type:Article
Communicated by:n.n.
Affiliations:MPI f�r molekulare Zellbiologie und Genetik
Identifiers:LOCALID:1133
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.