Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

  title={Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.},
  author={Xiaoyan Lin and Jill W Miller and Ami Mankodi and Rahul N Kanadia and Yuan Yuan and Richard T. Moxley and Maurice S. Swanson and Charles A. Thornton},
  journal={Human molecular genetics},
  volume={15 13},
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing transcripts accumulate in nuclear foci, together with proteins in the muscleblind family, MBNL1 and MBNL2. In transgenic mice that express expanded CUG repeats, we show that the splicing defect selectively targets a group of exons that share a common temporal pattern of developmental regulation. These exons undergo a synchronized… CONTINUE READING
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