Regional and developmental expression of Epm2a gene and its evolutionary conservation

Ganesh, Subramaniam ; Agarwala, Kishan Lal ; Amano, Kenji ; Suzuki, Toshimitsu ; Delgado-Escueta, Antonio V. ; Yamakawa, Kazuhiro (2001) Regional and developmental expression of Epm2a gene and its evolutionary conservation Biochemical and Biophysical Research Communications, 283 (5). pp. 1046-1053. ISSN 0006-291X

Full text not available from this repository.

Official URL:

Related URL:


Lafora's disease, an autosomal recessive progressive myoclonus epilepsy, is caused by mutations in the EPM2A gene encoding a dual-specificity phosphatase (DSP) named laforin. Here, we analyzed the developmental and regional expression of murine Epm2a and discussed its evolutionary conservation. A phylogenetic analysis indicated that laforin is evolutionarily distant from other DSPs. Southern zoo blot analysis suggested that conservation of Epm2a gene is limited to mammals. Laforin orthologs (human, mouse, and rat) display more than 94% similarity. All missense mutations known in Lafora disease patients affect conserved residues, suggesting that they may be essential for laforin's function. Epm2a is expressed widely in various organs but not homogeneously in brain. The levels of Epm2a transcripts in mice brains increase postnatally, attaining its highest level in adults. The most intense signal was detected in the cerebellum, hippocampus, cerebral cortex, and the olfactory bulb. Our results suggest that Epm2a is functionally conserved in mammals and is involved in growth and maturation of neural networks.

Item Type:Article
Source:Copyright of this article belongs to Elsevier Science.
Keywords:Laforin; Lafora's Disease; Epilepsy; Dual-Specificity Phosphatase; Homologue; Expression; Conservation; Evolution
ID Code:102829
Deposited On:01 Feb 2017 16:55
Last Modified:01 Feb 2017 16:55

Repository Staff Only: item control page