| Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. | |
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MedLine Citation:
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PMID: 22022287 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Calvin A Mok; Michael P Healey; Tanvi Shekhar; Michel R Leroux; Elise Héon; Mei Zhen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-10-13 |
Journal Detail:
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Title: PLoS genetics Volume: 7 ISSN: 1553-7404 ISO Abbreviation: PLoS Genet. Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-24 Completed Date: 2012-02-10 Revised Date: 2013-05-23 |
Medline Journal Info:
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Nlm Unique ID: 101239074 Medline TA: PLoS Genet Country: United States |
Other Details:
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Languages: eng Pagination: e1002335 Citation Subset: IM |
Affiliation:
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The Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Animals, Genetically Modified Bardet-Biedl Syndrome / genetics*, metabolism Body Size / genetics Caenorhabditis elegans / genetics* Caenorhabditis elegans Proteins / genetics*, metabolism Cilia / genetics, metabolism Cyclic GMP / genetics, metabolism Cyclic GMP-Dependent Protein Kinases / genetics*, metabolism Disease Models, Animal Guanylate Cyclase / genetics*, metabolism Humans Mutation Nerve Tissue Proteins / genetics*, metabolism Phenotype Protein Transport / genetics Sensory Receptor Cells / metabolism Signal Transduction / genetics |
| Grant Support | |
ID/Acronym/Agency:
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MOP-93619//Canadian Institutes of Health Research; MOP-97956//Canadian Institutes of Health Research |
| Chemical | |
Reg. No./Substance:
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0/BBS-7 protein, C elegans; 0/Caenorhabditis elegans Proteins; 0/Nerve Tissue Proteins; 7665-99-8/Cyclic GMP; EC 2.7.11.12/Cyclic GMP-Dependent Protein Kinases; EC 2.7.11.12/EGL-4 protein, C elegans; EC 4.6.1.2/GCY-35 protein, C elegans; EC 4.6.1.2/GCY-36 protein, C elegans; EC 4.6.1.2/Guanylate Cyclase |
| Comments/Corrections | |
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