Deletion of the dystrophin muscle promoter in feline muscular dystrophy.
We have characterized the mutation in a feline model of DMD that selectively eliminates expression of the muscle and Purkinje neuronal dystrophin isoforms. The cortical neuronal isoform was expressed at a detectable level in skeletal muscle in the absence of the muscle promoter and levels of PCR products representing cortical neuronal-type transcripts in dystrophic muscle were comparable to those of normal feline skeletal muscle. Although localized at the sarcolemma, cortical neuronal dystrophin apparently failed to protect skeletal muscle. Neuronal transcripts could not be amplified from feline heart, indicating that these promoters are not active in this tissue in the cat.
Winand
N J
NJ
Department of Pathology, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853.
Edwards
M
M
Pradhan
D
D
Berian
C A
CA
Cooper
B J
BJ
D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D015153:Blotting, Western; D002415:Cats; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D017353:Gene Deletion; D007091:Image Processing, Computer-Assisted; D007150:Immunohistochemistry; D007536:Isomerism; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism / Q000648:ultrastructure; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D012508:Sarcolemma / Q000378:metabolism; D014158:Transcription, Genetic
D016189:Dystrophin