An autosomal transcript in skeletal muscle with homology to dystrophin.
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.
Love
D R
DR
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
Hill
D F
DF
Dickson
G
G
Spurr
N K
NK
Byth
B C
BC
Marsden
R F
RF
Walsh
F S
FS
Edwards
Y H
YH
Davies
K E
KE
D001483:Base Sequence; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII; D016189:Dystrophin; D006801:Humans; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000032:analysis* / Q000196:embryology; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000235:genetics / Q000302:isolation & purification; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
D016189:Dystrophin; D009124:Muscle Proteins; D012333:RNA, Messenger; D004247:DNA; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015247:Deoxyribonuclease HindIII