© 2017. Published by The Company of Biologists Ltd.
Unique Cell Biological Profiles of Retinal Disease-Causing Missense
Mutations in the Polarity Protein Crumbs
Milena Pellikka and Ulrich Tepass
Department of Cell and Systems Biology, University of Toronto, Toronto, Ontario, Canada
Key words: Crumbs, CRB1, photoreceptor cells, retinal degeneration, missense mutations
Corresponding author:
Ulrich Tepass
Department of Cell and Systems Biology
University of Toronto
25 Harbord Street
Toronto, Ontario M5S 3G5
Canada
Phone: 416-978-5712
Email: u.tepass@utoronto.ca
Summary Statement
To better understand the consequences of retinal disease causing missense mutations in
human CRB1 we have recreated 4 mutations in Drosophila crb. Analysis of these mutations
identifies domains within the Crb extracellular region that control protein level and
distribution, and suggests that CRB1 missense mutations affect rhodopsin trafficking, a
known cause of retinal disease.
Journal of Cell Science Advance article
JCS Advance Online Article. Posted on 17 May 2017