|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1993-6-9
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5-30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMR-N9) in close proximity to the kinase gene. DMR-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
1061-4036
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
1
|
|
pubmed:geneSymbol |
DMR-B15,
DMR-N9
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
N
|
|
pubmed:pagination |
261-6
|
|
pubmed:dateRevised |
2009-11-19
|
|
pubmed:meshHeading |
pubmed-meshheading:1302022-Alternative Splicing,
pubmed-meshheading:1302022-Amino Acid Sequence,
pubmed-meshheading:1302022-Animals,
pubmed-meshheading:1302022-Base Sequence,
pubmed-meshheading:1302022-Brain,
pubmed-meshheading:1302022-DNA,
pubmed-meshheading:1302022-Humans,
pubmed-meshheading:1302022-Isoenzymes,
pubmed-meshheading:1302022-Male,
pubmed-meshheading:1302022-Mice,
pubmed-meshheading:1302022-Molecular Sequence Data,
pubmed-meshheading:1302022-Myocardium,
pubmed-meshheading:1302022-Myotonic Dystrophy,
pubmed-meshheading:1302022-Oligodeoxyribonucleotides,
pubmed-meshheading:1302022-Open Reading Frames,
pubmed-meshheading:1302022-Polymorphism, Genetic,
pubmed-meshheading:1302022-Protein Kinases,
pubmed-meshheading:1302022-Protein-Serine-Threonine Kinases,
pubmed-meshheading:1302022-Proteins,
pubmed-meshheading:1302022-RNA, Messenger,
pubmed-meshheading:1302022-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:1302022-Testis,
pubmed-meshheading:1302022-Transcription, Genetic
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.
|
|
pubmed:affiliation |
Department of Cell Biology and Histology, Faculty of Medical Sciences, University of Nijmegen, The Netherlands.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|
