Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.

ABSTRACT:

Background

Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ciliopathies. Several ciliopathy proteins influence developmental signalling and aberrant signalling explains many ciliopathy phenotypes. Ciliary compartmentalisation is essential for function, and the transition zone (TZ), found at the proximal end of the cilium, has recently emerged as a key player in regulating this process. Ciliary compartmentalisation is linked to two protein complexes, the MKS and NPHP complexes, at the TZ that consist largely of ciliopathy proteins, leading to the hypothesis that ciliopathy proteins affect signalling by regulating ciliary content. However, there is no consensus on complex composition, formation,

SUBMITTER: Barker AR 

PROVIDER: S-EPMC4092220 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature