Ontology highlight
ABSTRACT:
SUBMITTER: Chakarova CF
PROVIDER: S-EPMC3033188 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Chakarova Christina F CF Khanna Hemant H Shah Amna Z AZ Patil Suresh B SB Sedmak Tina T Murga-Zamalloa Carlos A CA Papaioannou Myrto G MG Nagel-Wolfrum Kerstin K Lopez Irma I Munro Peter P Cheetham Michael M Koenekoop Robert K RK Rios Rosa M RM Matter Karl K Wolfrum Uwe U Swaroop Anand A Bhattacharya Shomi S SS
Human molecular genetics 20101215 5
We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS is a novel component of the photoreceptor sensory cilium, which is a modified primary cilium involved with polarized trafficking of proteins. In photoreceptors, TOPORS localizes pr ...[more]