부산대학교 도서관

Muscular dystrophy model Facioscapulohumeral muscular dystrophy is a human muscle disorder linked to deletions of a repeat unit on chromosome 4. An experiment in which transgenic mice were engineered to overexpress three skeletal muscle genes linked to this deletion shows that overexpression of one of them, FRG1, causes the signs of muscular dystrophy. Too much FRG1 leads to abnormal splicing of pre-mRNAs in skeletal muscle. Future studies will explore how this leads to abnormal spine curvature and other symptoms. And the availability of a mouse model for this type of muscular dystrophy will be of value in evaluating therapeutic strategies.