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

M Puttaraju, J DiPasquale, CC Baker, LG Mitchell… - Molecular Therapy, 2001 - cell.com
M Puttaraju, J DiPasquale, CC Baker, LG Mitchell, MA Garcia-Blanco
Molecular Therapy, 2001cell.com
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 …
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.
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