Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts

ACS Chem Biol. 2012 Mar 16;7(3):496-505. doi: 10.1021/cb200413a. Epub 2012 Jan 17.

Abstract

Recently, it was reported that expanded r(CAG) triplet repeats (r(CAG)(exp)) associated with untreatable neurological diseases cause pre-mRNA mis-splicing likely due to sequestration of muscleblind-like 1 (MBNL1) splicing factor. Bioactive small molecules that bind the 5'CAG/3'GAC motif found in r(CAG)(exp) hairpin structure were identified by using RNA binding studies and virtual screening/chemical similarity searching. Specifically, a benzylguanidine-containing small molecule was found to improve pre-mRNA alternative splicing of MBNL1-sensitive exons in cells expressing the toxic r(CAG)(exp). The compound was identified by first studying the binding of RNA 1 × 1 nucleotide internal loops to small molecules known to have affinity for nucleic acids. Those studies identified 4',6-diamidino-2-phenylindole (DAPI) as a specific binder to RNAs with the 5'CAG/3'GAC motif. DAPI was then used as a query molecule in a shape- and chemistry alignment-based virtual screen to identify compounds with improved properties, which identified 4-guanidinophenyl 4-guanidinobenzoate, a small molecule that improves pre-mRNA splicing defects associated with the r(CAG)(exp)-MBNL1 complex. This compound may facilitate the development of therapeutics to treat diseases caused by r(CAG)(exp) and could serve as a useful chemical tool to dissect the mechanisms of r(CAG)(exp) toxicity. The approach used in these studies, defining the small RNA motifs that bind small molecules with known affinity for nucleic acids and then using virtual screening to optimize them for bioactivity, may be generally applicable for designing small molecules that target other RNAs in the human genomic sequence.

Publication types

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

MeSH terms

  • Benzoates / chemistry
  • Benzoates / pharmacology*
  • Guanidines / chemistry
  • Guanidines / pharmacology*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Ligands
  • RNA Splicing / drug effects
  • RNA Splicing / genetics*
  • RNA, Messenger / chemistry
  • RNA, Messenger / drug effects
  • RNA, Messenger / genetics*
  • RNA-Binding Proteins / antagonists & inhibitors
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / genetics*
  • Small Molecule Libraries / chemistry
  • Small Molecule Libraries / pharmacology*
  • Structure-Activity Relationship
  • Transcription, Genetic / drug effects
  • Transcription, Genetic / genetics*
  • Trinucleotide Repeats / drug effects
  • Trinucleotide Repeats / genetics*
  • Tumor Cells, Cultured

Substances

  • 4-guanidinophenyl 4-guanidinobenzoate
  • Benzoates
  • Guanidines
  • Ligands
  • MBNL1 protein, human
  • RNA, Messenger
  • RNA-Binding Proteins
  • Small Molecule Libraries