Therapeutic activity of modified U1 core spliceosomal particles

Nat Commun. 2016 Apr 4:7:11168. doi: 10.1038/ncomms11168.

Abstract

Modified U1 snRNAs bound to intronic sequences downstream of the 5' splice site correct exon skipping caused by different types of mutations. Here we evaluate the therapeutic activity and structural requirements of these exon-specific U1 snRNA (ExSpeU1) particles. In a severe spinal muscular atrophy, mouse model, ExSpeU1, introduced by germline transgenesis, increases SMN2 exon 7 inclusion, SMN protein production and extends life span. In vitro, RNA mutant analysis and silencing experiments show that while U1A protein is dispensable, the 70K and stem loop IV elements mediate most of the splicing rescue activity through improvement of exon and intron definition. Our findings indicate that precise engineering of the U1 core spliceosomal RNA particle has therapeutic potential in pathologies associated with exon-skipping mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Genetic Therapy
  • Mice
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Nucleic Acid Conformation
  • Phenotype
  • RNA Splice Sites
  • RNA Splicing*
  • RNA, Small Nuclear / chemistry
  • RNA, Small Nuclear / physiology*
  • Spliceosomes / chemistry
  • Spliceosomes / genetics
  • Spliceosomes / physiology

Substances

  • RNA Splice Sites
  • RNA, Small Nuclear
  • U1 small nuclear RNA