論文 - 詳細
RRC ID | 46293 |
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著者 | Mok CA, Healey MP, Shekhar T, Leroux MR, Héon E, Zhen M. |
タイトル | Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. |
ジャーナル | PLoS Genet |
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. |
巻・号 | 7(10) |
ページ | e1002335 |
公開日 | 2011-10-1 |
DOI | 10.1371/journal.pgen.1002335 |
PII | PGENETICS-D-11-01033 |
PMID | 22022287 |
PMC | PMC3192831 |
MeSH | Animals Animals, Genetically Modified Bardet-Biedl Syndrome / genetics* Bardet-Biedl Syndrome / metabolism Body Size / genetics Caenorhabditis elegans / genetics* Caenorhabditis elegans Proteins / genetics* Caenorhabditis elegans Proteins / metabolism Cilia / genetics Cilia / metabolism Cyclic GMP / genetics Cyclic GMP / metabolism Cyclic GMP-Dependent Protein Kinases / genetics* Cyclic GMP-Dependent Protein Kinases / metabolism Disease Models, Animal Guanylate Cyclase / genetics* Guanylate Cyclase / metabolism Humans Mutation Nerve Tissue Proteins / genetics* Nerve Tissue Proteins / metabolism Phenotype Protein Transport / genetics Sensory Receptor Cells / metabolism Signal Transduction / genetics |
IF | 5.175 |
引用数 | 11 |
WOS 分野 | GENETICS & HEREDITY |
リソース情報 | |
線虫 | tm1653 tm901 tm2411 tm4300 tm2669 tm1449 tm2816 tm2364 tm324 |