Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila

Nat Commun. 2020 Nov 5;11(1):5608. doi: 10.1038/s41467-020-19451-z.

Abstract

The minor spliceosome is evolutionarily conserved in higher eukaryotes, but its biological significance remains poorly understood. Here, by precise CRISPR/Cas9-mediated disruption of the U12 and U6atac snRNAs, we report that a defective minor spliceosome is responsible for spinal muscular atrophy (SMA) associated phenotypes in Drosophila. Using a newly developed bioinformatic approach, we identified a large set of minor spliceosome-sensitive splicing events and demonstrate that three sensitive intron-containing neural genes, Pcyt2, Zmynd10, and Fas3, directly contribute to disease development as evidenced by the ability of their cDNAs to rescue the SMA-associated phenotypes in muscle development, neuromuscular junctions, and locomotion. Interestingly, many splice sites in sensitive introns are recognizable by both minor and major spliceosomes, suggesting a new mechanism of splicing regulation through competition between minor and major spliceosomes. These findings reveal a vital contribution of the minor spliceosome to SMA and to regulated splicing in animals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Drosophila
  • Drosophila Proteins / genetics*
  • Introns*
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • RNA Splice Sites
  • RNA Splicing / genetics
  • RNA, Small Nuclear / genetics
  • RNA, Small Nuclear / metabolism
  • RNA-Binding Proteins / genetics
  • Spliceosomes / genetics
  • Spliceosomes / pathology*

Substances

  • Drosophila Proteins
  • Nerve Tissue Proteins
  • RNA Splice Sites
  • RNA, Small Nuclear
  • RNA-Binding Proteins
  • Smn protein, Drosophila