CERULOPLASMIN GENE DEFECT ASSOCIATED WITH EPILEPSY IN EL MICE

Epilepsy is a dominant trait in EL mice, a model for human complex par tial seizures. We recently mapped the major gene, El-1, to chromosome 9 near the predicted location for the ceruloplasmin (Cp) gene. We now present evidence for a partial duplication in the Cp gene in EL mice. This Cp duplication is coinherited with seizures in backcross generati ons and is associated with enhanced expression of Cp mRNA and increase d Cp oxidase activity. Moreover, the duplication is associated with an enhanced frequency of double recombinants, simulating negative interf erence. The findings are relevant to the basic mechanisms of epilepsy and to theories of genetic recombination and gene mapping.