| Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome. | |
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MedLine Citation:
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PMID: 20716578 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CHARGE syndrome (CS, OMIM #214800) is a rare, autosomal dominant disorder, two-thirds of which are caused by haplo-insufficiency in the Chd7 gene. Here, we show that the Drosophila homolog of Chd7, kismet, is required for proper axonal pruning, guidance and extension in the developing fly's central nervous system. In addition to defects in neuroanatomy, flies with reduced kismet expression show defects in memory and motor function, phenotypes consistent with symptoms observed in CS patients. We suggest that the analysis of this disease model can complement and expand upon the existing studies for this disease, allowing a better understanding of the role of kismet in neural developmental, and Chd7 in CS pathogenesis. |
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Authors:
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David J Melicharek; Laura C Ramirez; Sukhdeep Singh; Rhea Thompson; Daniel R Marenda |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-08-17 |
Journal Detail:
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Title: Human molecular genetics Volume: 19 ISSN: 1460-2083 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-11 Completed Date: 2011-02-10 Revised Date: 2011-11-01 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
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Languages: eng Pagination: 4253-64 Citation Subset: IM |
Affiliation:
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Department of Biology, Drexel University, Philadelphia, PA 19104, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Axons* Behavior, Animal DNA Helicases / physiology* Drosophila / embryology, genetics, physiology* Drosophila Proteins / physiology* Homeodomain Proteins / physiology* Locomotion* Models, Biological* Mutation Phenotype |
| Grant Support | |
ID/Acronym/Agency:
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R21 RR026074-01A1/RR/NCRR NIH HHS; R21 RR026074-02/RR/NCRR NIH HHS; R21RR026074/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Drosophila Proteins; 0/Homeodomain Proteins; EC 3.6.1.-/DNA Helicases; EC 5.99.-/kis protein, Drosophila |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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