Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A

Mutations in the novel gene, EPM2A, have been shown recently to cause the p rogressive myoclonus epilepsy of Lafora type. EPM2A is predicted to encode a putative protein-tyrosine phosphatase but its specific role in normal bra in function and in the Lafora disease is not known. As a first step towards understanding the cellular function of EPM2A in an animal model, we have i solated cDNA clones for mouse EPM2A and analyzed its expression, Sequence a nalyses of the mouse cDNA clones revealed a complete ORF that supports the 5' coding sequence predicted for human EPM2A from the genomic sequence. Whe n compared to EPM2A, the mouse homologue, named Epa2a, shows 86% identity a t the nucleotide level and 88% identity and 93% similarity at the amino aci d level. Similar to the human counterpart, Epm2a showed ubiquitous expressi on in Northern with a major transcript size of 3.5 kb. We have mapped the E pm2a to the proximal region of mouse chromosome 10 which is the syntenic re gion for human chromosome band, 6q24. Our results suggest that EPM2A is hig hly conserved in mammals and might have a conserved function. (C) 1999 Acad emic Press.