Journal
FEBS LETTERS
Volume 579, Issue 21, Pages 4822-4828Publisher
WILEY
DOI: 10.1016/j.febslet.2005.07.065
Keywords
epsilon-sarcoglycan; epsilon-sarcoglycan gene; imprinting; PDZ-binding motif; myoclonus-dystonia
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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. (c) 2005 Published by Elsevier B.V. on behalf of the Federation of European Biochemical Societies.
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