Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

@article{Incio2004NonsenseMI,
  title={Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.},
  author={{\^A}ngela In{\'a}cio and Ana Lu{\'i}sa Silva and Joana Pinto and Xinjun Ji and Ana Morgado and F. L. de Almeida and Paula Faustino and Jo{\~a}o Lavinha and S. A. Liebhaber and Lu{\'i}sa Rom{\~a}o},
  journal={The Journal of biological chemistry},
  year={2004},
  volume={279 31},
  pages={32170-80}
}
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction. We have described a set of naturally occurring human beta-globin gene mutations that apparently contradict this rule. The corresponding beta-thalassemia genes contain nonsense mutations within exon 1… CONTINUE READING