Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.

@article{Danckwardt2002AbnormallySB,
  title={Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.},
  author={S. Danckwardt and G. Neu-Yilik and R. Thermann and U. Frede and M. Hentze and A. Kulozik},
  journal={Blood},
  year={2002},
  volume={99 5},
  pages={
          1811-6
        }
}
Nonsense-mediated mRNA decay (NMD) represents a phylogenetically widely conserved splicing- and translation-dependent mechanism that eliminates transcripts with premature translation stop codons and suppresses the accumulation of C-terminally truncated peptides. Elimination of frameshifted transcripts that result from faulty splicing may be an important function of NMD. To test this hypothesis directly, this study used the IVS1 + 5 G>A thalassemia mutation of the human beta-globin gene as a… Expand
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