NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

Genes Dev. 2008 May 15;22(10):1381-96. doi: 10.1101/gad.468808.

Abstract

Nonsense-mediated mRNA decay (NMD) is a post-transcriptional surveillance process that eliminates mRNAs containing premature termination codons (PTCs). NMD has been hypothesized to impact on several aspects of cellular function; however, its importance in the context of a mammalian organism has not been addressed in detail. Here we use mouse genetics to demonstrate that hematopoietic-specific deletion of Upf2, a core NMD factor, led to the rapid, complete, and lasting cell-autonomous extinction of all hematopoietic stem and progenitor populations. In contrast, more differentiated cells were only mildly affected in Upf2-null mice, suggesting that NMD is mainly essential for proliferating cells. Furthermore, we show that UPF2 loss resulted in the accumulation of nonproductive rearrangement by-products from the Tcrb locus and that this, as opposed to the general loss of NMD, was particularly detrimental to developing T-cells. At the molecular level, gene expression analysis showed that Upf2 deletion led to a profound skewing toward up-regulated mRNAs, highly enriched in transcripts derived from processed pseudogenes, and that NMD impacts on regulated alternative splicing events. Collectively, our data demonstrate a unique requirement of NMD for organismal survival.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Carrier Proteins / genetics
  • Cells, Cultured
  • Codon, Nonsense / genetics
  • Codon, Nonsense / physiology*
  • Gene Expression Profiling
  • Gene Rearrangement / genetics
  • Gene Rearrangement / physiology*
  • Hematopoietic Stem Cells / metabolism*
  • Humans
  • Lymphoid Progenitor Cells / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Models, Biological
  • Oligonucleotide Array Sequence Analysis
  • RNA Stability / genetics*
  • RNA-Binding Proteins
  • Sequence Deletion / physiology*

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • RNA-Binding Proteins
  • Upf2 protein, mouse