Myotonic dystrophy (MD) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n repeat expansion in the 3-untranslated region of the myotonin protein kinase (Mt-PK) gene. A (CUG) n oligonucleotides triplet repeat pre-mRNA/mRNA binding protein may play an important role in DM pathogenesis. HeLa cell protein, CUG-BP1, has been purified based upon its ability to bind specifically to (CUG) 8 oligonucleotides in vitro. CUG-BP1 is the major (CUG) 8 - binding activity in normal cells. CUG-BP1 has been identified as isoforms of a novel heterogeneous nuclear ribonucleoprotein (hnRNP), hNab50. The CUG-BP/hNab50 protein is localized predominantly in the nucleus and is associated with polyadenylated RNAs in vivo. In vitro RNA-binding/photocrosslinking studies demonstrate that CUG-BP/hNab50 binds to RNAs containing the Mt-PK 3-UTR. The (CUG) n repeat region in Mt-PK mRNA is a binding site for CUG-BP/hNab50 in vivo, and triplet repeat expansion leads to sequestration of this hnRNP on mutant Mt-PK transcripts.
Related Pathway
Adipogenesis
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HEK293T cells were transfected with the pCMV6-ENTRY control or pCMV6-ENTRY CUGBP1 (RC206275) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-CUGBP1.
