mutations in a guanylate cyclase gcy-35gcy-36 modify bardet-biedl syndrome–associated phenotypes in caenorhabditis elegans鸟苷酸环化酶变异gcy-35gcy-36修改bardet-biedl syndrome-associated在秀丽隐杆线虫表型.pdfVIP

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mutations in a guanylate cyclase gcy-35gcy-36 modify bardet-biedl syndrome–associated phenotypes in caenorhabditis elegans鸟苷酸环化酶变异gcy-35gcy-36修改bardet-biedl syndrome-associated在秀丽隐杆线虫表型.pdf

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mutations in a guanylate cyclase gcy-35gcy-36 modify bardet-biedl syndrome–associated phenotypes in caenorhabditis elegans鸟苷酸环化酶变异gcy-35gcy-36修改bardet-biedl syndrome-associated在秀丽隐杆线虫表型

Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans 1,2,3 4 1 4 ´ 1,3 2,3,5 Calvin A. Mok , Michael P. Healey , Tanvi Shekhar , Michel R. Leroux , Elise Heon *, Mei Zhen * 1The Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada, 2 Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada, 3 Institute of Medical Science, University of Toronto, Toronto, Canada, 4 Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, Canada, 5 Department of Molecular Genetics, University of Toronto, Toronto, Canada 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. ´ Citation: Mok CA