| First Author | Love DR | Year | 1989 |
| Journal | Nature | Volume | 339 |
| Issue | 6219 | Pages | 55-8 |
| PubMed ID | 2541343 | Mgi Jnum | J:28687 |
| Mgi Id | MGI:76230 | Doi | 10.1038/339055a0 |
| Citation | Love DR, et al. (1989) An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339(6219):55-8 |
| abstractText | The Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp21 and codes for a 14-kilobase (kb) transcript and a protein called dystrophin, 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 attachment. 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. |
