Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

Nat Neurosci. 2011 Apr;14(4):459-68. doi: 10.1038/nn.2779. Epub 2011 Feb 27.

Abstract

We used cross-linking and immunoprecipitation coupled with high-throughput sequencing to identify binding sites in 6,304 genes as the brain RNA targets for TDP-43, an RNA binding protein that, when mutated, causes amyotrophic lateral sclerosis. Massively parallel sequencing and splicing-sensitive junction arrays revealed that levels of 601 mRNAs were changed (including Fus (Tls), progranulin and other transcripts encoding neurodegenerative disease-associated proteins) and 965 altered splicing events were detected (including in sortilin, the receptor for progranulin) following depletion of TDP-43 from mouse adult brain with antisense oligonucleotides. RNAs whose levels were most depleted by reduction in TDP-43 were derived from genes with very long introns and that encode proteins involved in synaptic activity. Lastly, we found that TDP-43 autoregulates its synthesis, in part by directly binding and enhancing splicing of an intron in the 3' untranslated region of its own transcript, thereby triggering nonsense-mediated RNA degradation.

Publication types

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

MeSH terms

  • 3' Untranslated Regions / genetics
  • Alternative Splicing / genetics*
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Animals
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics*
  • Female
  • Homeostasis / genetics
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / metabolism
  • Nerve Degeneration / physiopathology
  • Neurons / metabolism
  • Neurons / pathology*
  • Oligonucleotides, Antisense / genetics
  • RNA Precursors / antagonists & inhibitors
  • RNA Precursors / genetics*
  • RNA, Messenger / antagonists & inhibitors
  • RNA, Messenger / genetics*

Substances

  • 3' Untranslated Regions
  • DNA-Binding Proteins
  • Oligonucleotides, Antisense
  • RNA Precursors
  • RNA, Messenger

Associated data

  • OMIM/GSE2739