Splice-site pairing is an intrinsically high fidelity process

Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1766-71. doi: 10.1073/pnas.0813128106. Epub 2009 Jan 29.

Abstract

The extensive alternative splicing in higher eukaryotes has initiated a debate whether alternative mRNA isoforms are generated by an inaccurate spliceosome or are the consequence of highly degenerate splice sites within the human genome. Here, we established a quantitative assay to evaluate the accuracy of splice-site pairing by determining the number of incorrect exon-skipping events made from constitutively spliced pre-mRNA transcripts. We demonstrate that the spliceosome pairs exons with an astonishingly high degree of accuracy that may be limited by the quality of pre-mRNAs generated by RNA pol II. The error rate of exon pairing is increased by the effects of the neurodegenerative disorder spinal muscular atrophy because of reduced levels of Survival of Motor Neuron, a master assembler of spliceosomal components. We conclude that all multi-intron-containing genes are alternatively spliced and that the reduction of SMN results in a general splicing defect that is mediated through alterations in the fidelity of splice-site pairing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Cell Line
  • DNA Polymerase II
  • Exons
  • Female
  • Humans
  • Male
  • Muscular Atrophy, Spinal / pathology
  • RNA Precursors
  • RNA Splice Sites*
  • RNA Splicing*
  • Sequence Deletion
  • Survival of Motor Neuron 1 Protein / physiology*

Substances

  • RNA Precursors
  • RNA Splice Sites
  • Survival of Motor Neuron 1 Protein
  • DNA Polymerase II