Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?
It is becoming clear that exonic sequences can act as determinants of their own fate: the inclusion or exclusion from mature mRNA. Indeed, even silent nucleotide substitutions can cause aberrant exon skipping, resulting in a disease phenotype. It might be possible to restore essential splicing functions, lost through mutations, using molecular therapy at the RNA level. A variety of methods have been attempted, the most promising being the recent use of chimeric compounds that localize splicing-functional peptides by base complementarity.
Buratti
Emanuele
E
International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.
Baralle
Francisco E
FE
Pagani
Franco
F
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D004742:Enhancer Elements, Genetic; D005091:Exons / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D017354:Point Mutation; D012322:RNA Precursors / Q000145:classification / Q000378:metabolism*; D022821:RNA Splice Sites / Q000235:genetics; D012326:RNA Splicing; D020506:Untranslated Regions / Q000235:genetics
D012322:RNA Precursors; D022821:RNA Splice Sites; D020506:Untranslated Regions