دورية أكاديمية
أعرض في EDS

Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.

التفاصيل البيبلوغرافية
العنوان: Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.
المؤلفون: Mok CA; The Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Healey MP, Shekhar T, Leroux MR, Héon E, Zhen M
المصدر: PLoS genetics [PLoS Genet] 2011 Oct; Vol. 7 (10), pp. e1002335. Date of Electronic Publication: 2011 Oct 13.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science, c2005-
مواضيع طبية MeSH: Bardet-Biedl Syndrome/*genetics , Caenorhabditis elegans/*genetics , Caenorhabditis elegans Proteins/*genetics , Cyclic GMP-Dependent Protein Kinases/*genetics , Guanylate Cyclase/*genetics , Nerve Tissue Proteins/*genetics, Animals ; Animals, Genetically Modified ; Bardet-Biedl Syndrome/metabolism ; Body Size/genetics ; Caenorhabditis elegans Proteins/metabolism ; Cilia/genetics ; Cilia/metabolism ; Cyclic GMP/genetics ; Cyclic GMP/metabolism ; Cyclic GMP-Dependent Protein Kinases/metabolism ; Disease Models, Animal ; Guanylate Cyclase/metabolism ; Humans ; Mutation ; Nerve Tissue Proteins/metabolism ; Phenotype ; Protein Transport/genetics ; Sensory Receptor Cells/metabolism ; Signal Transduction/genetics
مستخلص: 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.
Competing Interests: The authors have declared that no competing interests exist.
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معلومات مُعتمدة: MOP-93619 Canada Canadian Institutes of Health Research; MOP-97956 Canada Canadian Institutes of Health Research
المشرفين على المادة: 0 (Caenorhabditis elegans Proteins)
0 (Nerve Tissue Proteins)
0 (osm-12 protein, C elegans)
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)
H2D2X058MU (Cyclic GMP)
تواريخ الأحداث: Date Created: 20111025 Date Completed: 20120210 Latest Revision: 20211020
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC3192831
DOI: 10.1371/journal.pgen.1002335
PMID: 22022287
قاعدة البيانات: MEDLINE
الوصف
تدمد:1553-7404
DOI:10.1371/journal.pgen.1002335