Regulation of splicing by MBNL and CELF family of RNA-binding protein.
Myotonic Dystrophy (DM), the most common form of adult-onset muscular dystrophy, comprises at least 2 subtypes, DM1 and DM2. DM1 is caused by the expansion of a CTG repeat located in the 3' untranslated region of the DM protein kinase (DMPK) gene. Recently, the expansion of a CCTG tetranucleotide repeat located in the first intron of the ZNF9 gene was identified as the mutation responsible for DM2. Since both DM1 and DM2 are caused by the expansion of repetitive sequences, some common factors that interact with these sequences might be involved in the pathogenesis of DM. MBNL1 is a candidate for such factors and is thought to be sequestered by the expanded forms of DM transcripts.
Ishiura
S
S
Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Japan.
Kino
Y
Y
Nezu
Y
Y
Onishi
H
H
Ohno
E
E
Sasagawa
N
N
D000818:Animals; D051743:CCAAT-Enhancer-Binding Protein-delta / Q000235:genetics / Q000502:physiology*; D024202:Electrophoretic Mobility Shift Assay; D006801:Humans; D007333:Insulin Resistance; D019154:Protein Splicing / Q000502:physiology*; D016601:RNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D020349:Surface Plasmon Resonance
C497252:CEBPD protein, human; C493663:MBNL1 protein, human; D016601:RNA-Binding Proteins; D051743:CCAAT-Enhancer-Binding Protein-delta