Ceruloplasmin gene defect associated with epilepsy in EL mice.
Epilepsy is a dominant trait in EL mice, a model for human complex partial 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 generations and is associated with enhanced expression of Cp mRNA and increased Cp oxidase activity. Moreover, the duplication is associated with an enhanced frequency of double recombinants, simulating negative interference. The findings are relevant to the basic mechanisms of epilepsy and to theories of genetic recombination and gene mapping.
Garey
C E
CE
Department of Biology, Boston College, Chestnut Hill, Massachusetts 02167.
Schwarzman
A L
AL
Rise
M L
ML
Seyfried
T N
TN
D000818:Animals; D002570:Ceruloplasmin / Q000096:biosynthesis / Q000235:genetics*; D002874:Chromosome Mapping; D003300:Copper / Q000502:physiology; D003433:Crosses, Genetic; D003434:Crossing Over, Genetic; D004195:Disease Models, Animal; D017029:Epilepsy, Complex Partial / Q000201:enzymology / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D008099:Liver / Q000201:enzymology; D051379:Mice; D008810:Mice, Inbred C57BL; D008811:Mice, Inbred DBA; D008815:Mice, Inbred Strains / Q000235:genetics*; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D005810:Multigene Family; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D009419:Nerve Tissue Proteins; D003300:Copper; D002570:Ceruloplasmin