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 progressive myoclonus epilepsy of Lafora type.EPM2Ais predicted to encode a putative protein-tyrosine phosphatase but its specific role in normal brain function and in the Lafora disease is not known. As a first step towards und...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1999-04, Vol.257 (1), p.24-28
Main Authors: Ganesh, Subramaniam, Amano, Kenji, Delgado-Escueta, Antonio V., Yamakawa, Kazuhiro
Format: Article
Language:English
Subjects:
3' Untranslated Regions - genetics
Amino Acid Sequence
Animals
Base Sequence
Blotting, Northern
Chromosomes, Human, Pair 6 - genetics
Cloning, Molecular
Codon, Initiator - genetics
DNA, Complementary - genetics
Dual-Specificity Phosphatases
Epilepsies, Myoclonic - genetics
Exons - genetics
Gene Expression - genetics
Genomic Library
Humans
Mice
Molecular Sequence Data
Open Reading Frames - genetics
Physical Chromosome Mapping
Protein Tyrosine Phosphatases - chemistry
Protein Tyrosine Phosphatases - genetics
Protein Tyrosine Phosphatases, Non-Receptor
RNA, Messenger - metabolism
Sequence Alignment
Sequence Homology, Amino Acid
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Summary:Mutations in the novel gene,EPM2A,have been shown recently to cause the progressive myoclonus epilepsy of Lafora type.EPM2Ais predicted to encode a putative protein-tyrosine phosphatase but its specific role in normal brain function and in the Lafora disease is not known. As a first step towards understanding the cellular function ofEPM2Ain an animal model, we have isolated cDNA clones for mouseEPM2Aand analyzed its expression. Sequence analyses of the mouse cDNA clones revealed a complete ORF that supports the 5′ coding sequence predicted for humanEPM2Afrom the genomic sequence. When compared toEPM2A,the mouse homologue, namedEpm2a,shows 86% identity at the nucleotide level and 88% identity and 93% similarity at the amino acid level. Similar to the human counterpart,Epm2ashowed ubiquitous expression in Northern with a major transcript size of 3.5 kb. We have mapped theEpm2ato the proximal region of mouse chromosome 10 which is the syntenic region for human chromosome band, 6q24. Our results suggest thatEPM2Ais highly conserved in mammals and might have a conserved function.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1999.0402