Journal Article

Kismet/CHD7 regulates axon morphology, memory and locomotion in a <i>Drosophila</i> model of CHARGE syndrome

David J. Melicharek, Laura C. Ramirez, Sukhdeep Singh, Rhea Thompson and Daniel R. Marenda

in Human Molecular Genetics

Volume 19, issue 21, pages 4253-4264
Published in print November 2010 | ISSN: 0964-6906
Published online August 2010 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddq348
Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome

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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.

Journal Article.  8042 words.  Illustrated.

Subjects: Genetics and Genomics

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