First Author | Yokoi F | Year | 2005 |
Journal | FEBS Lett | Volume | 579 |
Issue | 21 | Pages | 4822-8 |
PubMed ID | 16099459 | Mgi Jnum | J:101332 |
Mgi Id | MGI:3603854 | Doi | 10.1016/j.febslet.2005.07.065 |
Citation | Yokoi F, et al. (2005) Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. FEBS Lett 579(21):4822-8 |
abstractText | Mutations of SGCE encoding epsilon-sarcoglycan cause myoclonus-dystonia. SGCE is paternally expressed; however, 5-10% of patients show maternal inheritance of the disease. We found Sgce was exclusively paternally expressed in mice by using a novel polymorphism marker. The result was confirmed in Sgce heterozygous knockout mice. This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE. Furthermore, we report a new family of alternatively spliced Sgce mRNA expressed in the brain coding for different C-terminal sequences possessing a PDZ-binding motif. Our results provide a better basis for diagnosis and understanding of the pathogenesis of myoclonus-dystonia. |