Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Human molecular genetics | Mar 1, 2011

http://www.ncbi.nlm.nih.gov/pubmed/21159800

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 primarily to the basal bodies of connecting cilium and in the centrosomes of cultured cells. Morpholino-mediated silencing of topors in zebrafish embryos demonstrates in another species a comparable retinal problem as seen in humans, resulting in defective retinal development and failure to form outer segments. These defects can be rescued by mRNA encoding human TOPORS. Taken together, our data suggest that TOPORS may play a key role in regulating primary cilia-dependent photoreceptor development and function. Additionally, it is well known that mutations in other ciliary proteins cause retinal degeneration, which may explain why mutations in TOPORS result in the same phenotype.

Pubmed ID: 21159800 RIS Download

Mesh terms: Animals | Cell Line | Cells, Cultured | Centrosome | Cilia | Humans | Mice | Neoplasm Proteins | Nuclear Proteins | Photoreceptor Cells | Protein Transport | Retina | Retinal Degeneration | Ubiquitin-Protein Ligases | Zebrafish

Research resources used in this publication

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: NEI NIH HHS, Id: EY007961
  • Agency: Biotechnology and Biological Sciences Research Council, Id:

GO (Data, Gene Annotation)

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.