An autosomal transcript in skeletal muscle with homology to dystrophin

• Published in: Nature (London) 1989-05, Vol.339 (6219), p.55-58
• Main Authors: Love, Donald R, Hill, Diane F, Dickson, George, Spurr, Nigel K, Byth, Barbara C, Marsden, Rosalind F, Walsh, Frank S, Edwards, Yvonne H, Davies, Kay E
• Format: Article
• Language: English
• Subjects: Base Sequence; Biological and medical sciences; Cells, Cultured; Chromosome Mapping; Chromosomes, Human, Pair 6; Deoxyribonuclease EcoRI; Deoxyribonuclease HindIII; Deoxyribonucleic acid; DNA; DNA - genetics; DNA Restriction Enzymes; Dystrophin; Dystrophy; Fundamental and applied biological sciences. Psychology; Genes. Genome; Genetics; Humanities and Social Sciences; Humans; letter; Medical research; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; multidisciplinary; Muscle Proteins - genetics; Muscles - analysis; Muscles - embryology; Muscular dystrophy; Nucleic Acid Hybridization; Proteins; RNA, Messenger - genetics; RNA, Messenger - isolation & purification; Science; Science (multidisciplinary); Sequence Homology, Nucleic Acid; Transcription, Genetic
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/339055a0

THE Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp21 1–6 and codes for a 14-kilobase (kb) transcript 7 and a protein called dystrophin 8 , 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 9–13 . 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.