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Publication : Identification and characterization of epsilon-sarcoglycans in the central nervous system.

First Author  Nishiyama A Year  2004
Journal  Brain Res Mol Brain Res Volume  125
Issue  1-2 Pages  1-12
PubMed ID  15193417 Mgi Jnum  J:91226
Mgi Id  MGI:3046142 Doi  10.1016/j.molbrainres.2004.01.012
Citation  Nishiyama A, et al. (2004) Identification and characterization of epsilon-sarcoglycans in the central nervous system. Brain Res Mol Brain Res 125(1-2):1-12
abstractText  Alpha-, beta-, gamma-, and delta-sarcoglycans (SGs) are transmembrane glycoprotein components of the dystrophin-associated protein (DAP) complex, which is critical for the stability of the striated muscle cell membrane. Epsilon-SG was found as a homologue of alpha-SG, but unlike other SG members, it is ubiquitously expressed in various tissues as well as in striated muscle. Moreover, mutations in the epsilon-SG gene cause myoclonus-dystonia, indicating the importance of epsilon-SG for the function in the central nervous system. To gain insight into the role of epsilon-SG, its expression and subcellular distribution in mouse tissues and especially in the mouse brain were investigated. Analysis by reverse transcription-polymerase chain reaction showed four splice variants of epsilon-SG transcripts in the mouse brain, two of which are major transcript forms. One is a conventional form including exon 8 (epsilon-SG1), and the other is a novel form excluding exon 8 but including a previously unknown exon, 11b (epsilon-SG2). Immunoblot analysis using various mouse tissues indicated a broad expression pattern for epsilon-SG1, but epsilon-SG2 was expressed exclusively in the brain. Therefore, both epsilon-SG isoforms coexist in various regions of the brain. Furthermore, these isoforms were found in neuronal cells using immunohistochemical analysis. Subcellular fractionation of brain homogenates, however, indicated that epsilon-SG1 and epsilon-SG2 are relatively enriched in post- and pre-synaptic membrane fractions, respectively. These results suggest that the two epsilon-SG isoforms might play different roles in synaptic functions of the central nervous system.
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