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Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart
- Source :
- Human Molecular Genetics. 9:2167-2173
- Publication Year :
- 2000
- Publisher :
- Oxford University Press (OUP), 2000.
-
Abstract
- Myotonic dystrophy (DM) is a multisystemic disorder caused by an inherited CTG repeat expansion which affects three genes encoding the DM protein kinase (DMPK), a homeobox protein Six5 and a protein containing WD repeats. Using a panel of 16 monoclonal antibodies against several different DMPK epitopes we detected DMPK, as a single protein of approximately 80 kDa, only in skeletal muscle, cardiac muscle and, to a lesser extent, smooth muscle. Many earlier reports of DMPK with different sizes and tissue distributions appear to be due to antibody cross-reactions with more abundant proteins. One such antibody, MANDM1, was used to isolate two related protein kinases, MRCK alpha and beta, from a human brain cDNA library and the shared epitope was located at the catalytic site of DMPK using a phage-displayed random peptide library. The peptide library also identified an epitope shared between DMPK and a 55 kDa muscle-specific protein. The results suggest that effects of the repeat expansion on the DMPK gene may be responsible for muscle and heart features of DM, whereas clinical changes in other tissues may be due to effects on the other two genes.
- Subjects :
- Homeobox Protein SIX5
DNA, Complementary
Blotting, Western
Molecular Sequence Data
Protein Serine-Threonine Kinases
Biology
Myotonic dystrophy
Myotonin-Protein Kinase
Epitope
Epitopes
Peptide Library
Catalytic Domain
Genetics
medicine
Humans
Myotonic Dystrophy
Tissue Distribution
Amino Acid Sequence
Muscle, Skeletal
Peptide library
Protein kinase A
Molecular Biology
Genetics (clinical)
Gene Library
Base Sequence
Sequence Homology, Amino Acid
Muscles
Myocardium
Myotonin-protein kinase
Antibodies, Monoclonal
Brain
Skeletal muscle
Muscle, Smooth
General Medicine
medicine.disease
Molecular biology
Protein Structure, Tertiary
medicine.anatomical_structure
Electrophoresis, Polyacrylamide Gel
Trinucleotide Repeat Expansion
Trinucleotide repeat expansion
Subjects
Details
- ISSN :
- 14602083
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....8ec3484d81239ade6496eb64773d3442