Non-ATG-initiated translation directed by microsatellite expansions

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):260-5. doi: 10.1073/pnas.1013343108. Epub 2010 Dec 20.

Abstract

Trinucleotide expansions cause disease by both protein- and RNA-mediated mechanisms. Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polyglutamine, polyalanine, and polyserine proteins in the absence of an ATG start codon. This repeat-associated non-ATG translation (RAN translation) occurs across long, hairpin-forming repeats in transfected cells or when expansion constructs are integrated into the genome in lentiviral-transduced cells and brains. Additionally, we show that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of SCA8 polyalanine and DM1 polyglutamine expansion proteins in previously established SCA8 and DM1 mouse models and human tissue. These results have implications for understanding fundamental mechanisms of gene expression. Moreover, these toxic, unexpected, homopolymeric proteins now should be considered in pathogenic models of microsatellite disorders.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Blotting, Northern
  • Cell Line
  • Cloning, Molecular
  • Codon, Initiator / genetics
  • DNA Primers / genetics
  • Fluorescent Antibody Technique
  • Genetic Vectors
  • Humans
  • Immunoblotting
  • Immunohistochemistry
  • Immunoprecipitation
  • Lentivirus
  • Mass Spectrometry
  • Molecular Sequence Data
  • Mutagenesis
  • Myotonic Dystrophy / genetics
  • Peptides / genetics
  • Peptides / metabolism
  • Protein Biosynthesis / genetics*
  • Protein Biosynthesis / physiology
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinocerebellar Ataxias / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Codon, Initiator
  • DNA Primers
  • Peptides
  • polyalanine
  • polyserine
  • polyglutamine