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Dystrophin and dystrophin-related proteins: a review of protein and RNA studies

Blake, Derek 1993. Dystrophin and dystrophin-related proteins: a review of protein and RNA studies. Neuromuscular Disorders 3 (1) , pp. 5-21. 10.1016/0960-8966(93)90037-K

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Abstract

The analysis of dystrophin gene expression has led to the identification of multiple transcripts and varying isoforms. The data indicate that transcription of the dystrophin gene occurs from several promoters, which involves developmental and tissue-dependent regulation. These discoveries have complicated the interpretation of immunolocalization studies, although there is a strong correlation between the amount and size of dystrophin and the severity of the clinical phenotype. The importance of using protein-specific antibodies for dystrophin analysis has been underscored by the identification of a protein, designated utrophin, which exhibits significant sequence homology with dystrophin. This review addresses the recent studies of dystrophin and utrophin expression in an attempt to illustrate the transcriptional diversity of these large genes and the localization of their protein products within various tissues.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Duchenne muscular dystrophy, DMD, Becker muscular dystrophy, dystrophin, dystrophin-related protein, utrophin, apo-dystrophin, dystrophin-associated glycoprotein, muscle
Publisher: Elsevier
ISSN: 0960-8966
Last Modified: 09 Apr 2018 15:48
URI: http://orca-mwe.cf.ac.uk/id/eprint/50808

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