Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs

EMBO J. 2001 Feb 1;20(3):532-40. doi: 10.1093/emboj/20.3.532.

Abstract

Premature translation termination codons are common causes of genetic disorders. mRNAs with such mutations are degraded by a surveillance mechanism termed nonsense-mediated decay (NMD), which represents a phylogenetically widely conserved post-transcriptional mechanism for the quality control of gene expression. How NMD-competent mRNPs are formed and specified remains a central question. Here, we have used human beta-globin mRNA as a model system to address the role of splicing and polyadenylation for human NMD. We show that (i) splicing is an indispensable component of the human beta-globin NMD pathway, which cannot be compensated for by exonic beta-globin 'failsafe' sequences; (ii) the spatial requirements of human beta-globin NMD, as signified by the maximal distance of the nonsense mutation to the final exon-exon junction, are less constrained than in yeast; and (iii) non-polyadenylated mRNAs with a histone 3' end are NMD competent. Thus, the formation of NMD-competent mRNP particles critically depends on splicing but does not require the presence of a poly(A) tail.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon, Nonsense / genetics
  • DNA Primers / genetics
  • Globins / genetics*
  • HeLa Cells
  • Humans
  • In Vitro Techniques
  • Mutation
  • Poly A / metabolism
  • RNA Splicing / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Ribonucleoproteins / genetics*
  • Ribonucleoproteins / metabolism*
  • Saccharomyces cerevisiae / genetics
  • Saccharomyces cerevisiae / metabolism
  • Transfection

Substances

  • Codon, Nonsense
  • DNA Primers
  • RNA, Messenger
  • Ribonucleoproteins
  • messenger ribonucleoprotein
  • Poly A
  • Globins