Caenorhabditis elegans as a model organism for ciliopathies and related forms of photoreceptor degeneration

Abstract

Ciliopathies are a growing class of potentially pleiotropic disorders involving defective function, maintenance or biogenesis of primary cilia. Of the numerous features involved, photoreceptor degeneration is often reported and is a primary feature of Bardet-Biedl syndrome (OMIM #209900) and other ciliopathies such as Leber's congenital amaurosis and Senior-Løken syndrome. A number of animal models ranging from Chlamydomonas reinhardtii to Caenorhabditis elegans, to Mus musculus have helped to elucidate the possible molecular functions of BBS proteins among other ciliopathies. Using BBS as a disease model, we assessed the possible roles of BBS proteins in intraflagellar transport, protein regulation and vesicle transport using C. elegans as a model of phototransduction and cilia-related retinopathies. © 2012 Springer Science+Business Media, LLC.