Key result
Large CCUG expansions in DM2 fail to decrease ZNF9 mRNA or protein expression.
Why the study?
The potential role of flanking sequences within the DMPK 3'-UTR and the effects of large CCUG expansions on ZNF9 mRNA processing and protein expression in DM2 remain debated.
Population
Cell lines haploid or homozygous for DM2 expansion and skeletal muscle biopsy tissue
Comparison
CCUG expansion transcripts with or without flanking intronic sequences
Design
Molecular analysis of nucleic acid content and expression in cell lines and tissue
Authors
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DM2 caused by CCTG expansion in ZNF9; extends RNA toxicity paradigm to tetranucleotide repeats in myotonic dystrophy.
Margolis et al. (2006) studied Myotonic dystrophy type 2 (DM2). CCTG expansion mutation in intron 1 of the ZNF9 gene was evaluated on ZNF9 mRNA processing, protein expression, and nucleic acid content of ribonuclear inclusions. Large CCUG expansions in DM2 do not decrease ZNF9 expression at the mRNA or protein level, and ribonuclear inclusions are enriched for the CCUG expansion but not intronic flanking sequences.
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