ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I

UMMS Affiliation

Department of Cell Biology

Publication Date


Document Type



Alternative Splicing; Blotting, Western; Brain; Cell Line, Tumor; Electrophoresis, Polyacrylamide Gel; *Exons; Humans; Middle Aged; Muscle, Skeletal; Myotonic Dystrophy; Nerve Tissue Proteins; Neuroblastoma; Nuclear Proteins; RNA, Messenger; RNA-Binding Proteins; Reverse Transcriptase Polymerase Chain Reaction; Transfection; tau Proteins


Cell Biology


Altered splicing of transcripts, including the insulin receptor (IR) and the cardiac troponin (cTNT), is a key feature of myotonic dystrophy type I (DM1). CELF and MBNL splicing factor members regulate the splicing of those transcripts. We have previously described an alteration of Tau exon 2 splicing in DM1 brain, resulting in the favored exclusion of exon 2. However, the factors required for alternative splicing of Tau exon 2 remain undetermined. Here we report a decreased expression of CELF family member and MBNL transcripts in DM1 brains as assessed by RT-PCR. By using cellular models with a control- or DM1-like splicing pattern of Tau transcripts, we demonstrate that ETR-3 promotes selectively the exclusion of Tau exon 2. These results together with the analysis of Tau exon 6 and IR exon 11 splicing in brain, muscle, and cell models suggest that DM1 splicing alteration of several transcripts involves various factors.

DOI of Published Version



J Neurosci Res. 2006 Sep;84(4):852-9. Link to article on publisher's site

Journal/Book/Conference Title

Journal of neuroscience research

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Link to Article in PubMed

PubMed ID