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Ceruloplasmin gene defect associated with epilepsy in EL mice

Nature Genetics volume 6, pages 426–431 (1994)Cite this article

A Retraction to this article was published on 01 September 1995

Abstract

Epilepsy is a dominant trait in EL mice, a model for human complex partial seizures. We recently mapped the major gene, EI–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.

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Authors and Affiliations

  1. Department of Biology, Boston College, Chestnut Hill, Massachusetts, 02167, USA

    Caroline E. Garey, Alexander L. Schwarzman, Matthew L. Rise & Thomas N. Seyfried

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  1. Caroline E. Garey
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  2. Alexander L. Schwarzman
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  3. Matthew L. Rise
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  4. Thomas N. Seyfried
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Garey, C., Schwarzman, A., Rise, M. et al. Ceruloplasmin gene defect associated with epilepsy in EL mice. Nat Genet 6, 426–431 (1994). https://doi.org/10.1038/ng0494-426

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