Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing

Mol Ther. 2001 Aug;4(2):105-14. doi: 10.1006/mthe.2001.0426.

Abstract

The functional repertoire of the human genome is amplified by the differential assortment of exons. Spliceosome-mediated RNA trans-splicing can mobilize these packets of genetic information to reprogram mRNAs. In principle, this process could repair defective transcripts in loss-of-function genetic disorders in humans. We developed a tractable lacZ repair system to serve as a model for these genetic disorders. Targeted pre-trans-splicing RNA molecules efficiently and specifically repaired mutated lacZ transcripts and restored enzymatic activity in human cells. The development of this model confirms the potential for spliceosome-mediated RNA trans-splicing in genetic repairs and provides a powerful tool for rational design and in vitro evolution of pre-trans-splicing molecules.

Publication types

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

MeSH terms

  • Cell Fractionation
  • Cell Line
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Humans
  • Immunoblotting
  • Lac Operon*
  • Polymerase Chain Reaction / methods
  • RNA Splicing / physiology*
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism
  • Spliceosomes / metabolism*
  • Transfection
  • beta-Galactosidase / metabolism

Substances

  • CFTR protein, human
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • beta-Galactosidase