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- Title
Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome--Associated Phenotypes in Caenorhabditis elegans.
- Authors
Mok, Calvin A.; Healey, Michael P.; Shekhar, Tanvi; Leroux, Michel R.; Héon, Elise; Zhen, Mei
- Abstract
Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. Here we report the identification of mutations in guanylate cyclases (GCYs) as modifiers of Caenorhabditis elegans bbs endophenotypes. The loss of GCY-35 or GCY-36 results in suppression of the small body size, developmental delay, and exploration defects exhibited by multiple bbs mutants. Moreover, an effector of cGMP signalling, a cGMP-dependent protein kinase, EGL-4, also modifies bbs mutant defects. We propose that a misregulation of cGMP signalling, which underlies developmental and some behavioural defects of C. elegans bbs mutants, may also contribute to some BBS features in other organisms.
- Subjects
CAENORHABDITIS elegans; SENSORY neurons; BODY cavities; NEURONS; LAURENCE-Moon-Biedl syndrome; GUANYLATE cyclase
- Publication
PLoS Genetics, 2011, Vol 7, Issue 10, p1
- ISSN
1553-7390
- Publication type
Article
- DOI
10.1371/journal.pgen.1002335