Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.
Fu
Y H
YH
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Friedman
D L
DL
Richards
S
S
Pearlman
J A
JA
Gibbs
R A
RA
Pizzuti
A
A
Ashizawa
T
T
Perryman
M B
MB
Scarlato
G
G
Fenwick
R G
RG
D000328:Adult; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D008970:Molecular Weight; D009132:Muscles / Q000737:chemistry / Q000378:metabolism*; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000378:metabolism; D065636:Myotonin-Protein Kinase; D016133:Polymerase Chain Reaction; D011494:Protein Kinases / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D012333:RNA, Messenger / Q000235:genetics*
C585517:DMPK protein, human; D012333:RNA, Messenger; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases