CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Nat Commun. 2018 Jan 11;9(1):152. doi: 10.1038/s41467-017-02643-5.

Abstract

Expansion of G4C2 repeats in the C9ORF72 gene is the most prevalent inherited form of amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo repeat-associated non-AUG (RAN) translation producing dipeptide repeat proteins from all reading frames. We determined cis-factors and trans-factors influencing translation of the human C9ORF72 transcripts. G4C2 translation operates through a 5'-3' cap-dependent scanning mechanism, requiring a CUG codon located upstream of the repeats and an initiator Met-tRNAMeti. Production of poly-GA, poly-GP, and poly-GR proteins from the three frames is influenced by mutation of the same CUG start codon supporting a frameshifting mechanism. RAN translation is also regulated by an upstream open reading frame (uORF) present in mis-spliced C9ORF72 transcripts. Inhibitors of the pre-initiation ribosomal complex and RNA antisense oligonucleotides selectively targeting the 5'-flanking G4C2 sequence block ribosomal scanning and prevent translation. Finally, we identified an unexpected affinity of expanded transcripts for the ribosomal subunits independently from translation.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • C9orf72 Protein / biosynthesis*
  • C9orf72 Protein / genetics*
  • Cell Line
  • Dipeptides / genetics
  • Eukaryotic Initiation Factor-4F / genetics
  • Frameshifting, Ribosomal / genetics*
  • Frontotemporal Dementia / genetics*
  • HEK293 Cells
  • Humans
  • Microsatellite Repeats / genetics
  • Oligonucleotides, Antisense / genetics
  • Open Reading Frames / genetics
  • Peptide Chain Initiation, Translational / genetics*
  • RNA, Antisense / genetics
  • RNA, Transfer, Met / genetics
  • Ribosomes / metabolism

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Dipeptides
  • Eukaryotic Initiation Factor-4F
  • Oligonucleotides, Antisense
  • RNA, Antisense
  • RNA, Transfer, Met