A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein.
A Duchenne muscular dystrophy case showed truncated dystrophin (320 kDa) with an isoelectric point slightly shifted towards a more alkaline pH. From the polymerase chain reaction and immunochemical analysis data, the expressed dystrophin protein was predicted to lack the portion comprising the tail of the rod-like domain, the cysteine-rich domain, and the head of the C-terminal domain. These results indicated the functional importance of the cysteine-rich domain in the dystrophin protein.
Sakuraba
H
H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Hori
S
S
Ohtani
S
S
Hanaka
S
S
Abe
T
T
Shimmoto
M
M
Suzuki
Y
Y
D000293:Adolescent; D003545:Cysteine; D004247:DNA / Q000737:chemistry; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D007962:Leukocytes; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction
D016189:Dystrophin; D004247:DNA; D003545:Cysteine