Wednesday, July 29, 2015

New fly model of Meier-Gorlin syndrome

Maxim Balasov, Katarina Akhmetova andIgor Chesnokov. Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6. Article first published online: 2 JUL 2015. DOI: 10.1002/ajmg.a.37214

From the abstract: "Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears, and skeletal abnormalities. Patients with MGS often carry mutations in the genes encoding the components of the pre-replicative complex such as Origin Recognition Complex (ORC) subunits Orc1, Orc4, Orc6, and helicase loaders Cdt1 and Cdc6. ... we introduced MGS mutation in Orc6 and established Drosophila model of MGS ..."

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