Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

ABSTRACT: Ciliopathies are genetic disorders that are caused by dysfunctional cilia and affect multiple organs. One type of ciliopathy, Bardet-Biedl syndrome, is a rare disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation and susceptibility to cardiovascular diseases. The Wnt/Planar cell polarity (PCP) has been associated with cilia function and ciliogenesis in directing the orientation of cilia and basal bodies. Yet the exact relationship between PCP and ciliopathy is not well understood. Here, we examine interactions between a core PCP component, Prickle2 (Pk2), and a central BBS gene, Bbs7, using gene knockdown in the zebrafish. pk2 and bbs7 knockdown both disrupt the formation of a ciliated organ, the Kupffer׳s vesicle (KV), but do not display a synergistic in

SUBMITTER: Mei X 

PROVIDER: S-EPMC4114335 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature