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.
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Protein Aliases: 50 kDa nuclear polyadenylated RNA-binding protein; Brain protein F41; bruno-like 2; Bruno-like protein 2; CELF-1; CUG RNA-binding protein; CUG triplet repeat RNA-binding protein 1; CUG triplet repeat, RNA binding protein 1; CUG triplet repeat, RNA-binding protein 1; CUG-BP- and ETR-3-like factor 1; CUG-BP1; CUGBP Ela; CUGBP Elav-like family member 1; Deadenylation factor CUG-BP; Deadenylation factor EDEN-BP; EDEN-BP homolog; embryo deadenylation element binding protein; Embryo deadenylation element-binding protein homolog; nuclear polyadenylated RNA-binding protein, 50-kD; RNA-binding protein BRUNOL-2; RP23-147D3.7
Gene Aliases: 1600010O03Rik; AA407467; BRUNOL2; CELF1; CUG-BP; CUG-BP1; CUGBP; CUGBP1; D2Wsu101e; EDEN-BP; HNAB50; NAB50; NAPOR