Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans

Resource type
Date created
2011
Authors/Contributors
Author: Mok, Calvin
Author: Héon, Elise
Author: 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.
Document
Published as
Mok CA, Healey MP, Shekhar T, Leroux MR, Héon E, et al. (2011) Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans. PLoS Genet 7(10): e1002335. doi:10.1371/journal.pgen.1002335
Publication title
PLoS Genet
Document title
Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans
Date
2011
Volume
7
Issue
10
Publisher DOI
10.1371/journal.pgen.1002335
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Copyright is held by the author(s).
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Peer reviewed?
Yes
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Member of collection
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