Abstract
THE Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp211–6 and codes for a 14-kilobase (kb) transcript7 and a protein called dystrophin8, of relative molecular mass 427,000. Dystrophin is associated with the cytoplasmic face of muscle fibre membranes and its C-terminal domain is thought to mediate membrane attachment9–13. Although N-terminal and central domain structures share common features with other cytoskeletal components, no significant sequence similarity between the C-terminal region of dystrophin and other previously characterized proteins has been described. Here we report that fragments from the C-terminal domain of the DMD complementary DNA detect a closely related sequence which exhibits nucleic-acid and predicted amino-acid identities with dystrophin of approximately 65 and 80%, respectively. The dystrophin-related sequence identifies a 13-kb transcript in human fetal muscle and maps to chromosome 6. Thus, dystrophin may be a member of a family of functionally related large structural proteins in muscle.
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Love, D., Hill, D., Dickson, G. et al. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339, 55–58 (1989). https://doi.org/10.1038/339055a0
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DOI: https://doi.org/10.1038/339055a0
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