Abstract
DUCHENNE's muscular dystrophy (DMD) is an X-linked progressive myopathy caused by a defect in the DMD gene locus1,2. The gene corresponding to the DMD locus produces a 14-kilobase (kb) messenger RNA that codes for a large cytoskeletal membrane protein, dystrophin3,4. DMD and Becker's muscular dystrophy are the consequences of dystrophin mutations4,5. The exact biological function of dystrophin remains unknown but it has been demonstrated that it is localized to the cytoplasmic face of the cell membrane and has direct interaction with several other membrane proteins6,7. We report here the synthesis of a 14-kb full-length complementary DNA for the mouse muscle dystrophin mRNA and the expression of this cDNA in COS cells. The recombinant dystrophin is indistinguishable from mouse muscle dystrophin by western blot analysis with anti-dystrophin antibodies and was shown by an immunofluorescent technique to be localized in the cell membrane. Our successful construction of a functional full-length cDNA opens opportunities for the study of structure and function of dystrophin and provides an opportunity to initiate gene therapy studies.
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Lee, C., Pearlman, J., Chamberlain, J. et al. Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349, 334–336 (1991). https://doi.org/10.1038/349334a0
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DOI: https://doi.org/10.1038/349334a0
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