Journal article
Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome
Human molecular genetics, v 19(21), pp 4253-4264
01 Nov 2010
PMID: 20716578
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome
- Creators
- David J Melicharek - Department of Biology, Drexel University, Philadelphia, PA 19104, USALaura C RamirezSukhdeep SinghRhea ThompsonDaniel R Marenda
- Publication Details
- Human molecular genetics, v 19(21), pp 4253-4264
- Publisher
- Oxford University Press; England
- Grant note
- R21 RR026074 / NCRR NIH HHS R21 RR026074-01A1 / NCRR NIH HHS R21 RR026074-02 / NCRR NIH HHS R21RR026074 / NCRR NIH HHS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Biology
- Web of Science ID
- WOS:000282751500012
- Scopus ID
- 2-s2.0-77957887613
- Other Identifier
- 991014878237804721
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- Web of Science research areas
- Biochemistry & Molecular Biology
- Genetics & Heredity