کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2051352 1074197 2005 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Exclusive paternal expression and novel alternatively spliced variants of ε-sarcoglycan mRNA in mouse brain
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک دانش گیاه شناسی
پیش نمایش صفحه اول مقاله
Exclusive paternal expression and novel alternatively spliced variants of ε-sarcoglycan mRNA in mouse brain
چکیده انگلیسی

Mutations of SGCE encoding ε-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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: FEBS Letters - Volume 579, Issue 21, 29 August 2005, Pages 4822–4828
نویسندگان
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