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

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.

SUBMITTER: Melicharek DJ

PROVIDER: S-EPMC2951870 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature

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

Melicharek David J DJ Ramirez Laura C LC Singh Sukhdeep S Thompson Rhea R Marenda Daniel R DR

Human molecular genetics 20100817 21

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 ...[more]

PMID: 20716578

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