Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation.

@article{Romo2000NonsenseMI,
  title={Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation.},
  author={L Rom{\~a}o and {\^A}ngela In{\'a}cio and S{\'e}rgio Leandro dos Santos and Matthew Avila and Paula Faustino and Patricia S{\'a}nez Pacheco and Jo{\~a}o Lavinha},
  journal={Blood},
  year={2000},
  volume={96 8},
  pages={2895-901}
}
Generally, nonsense codons 50 bp or more upstream of the 3'-most intron of the human beta-globin gene reduce mRNA abundance. In contrast, dominantly inherited beta-thalassemia is frequently associated with nonsense mutations in the last exon. In this work, murine erythroleukemia (MEL) cells were stably transfected with human beta-globin genes mutated within each of the 3 exons, namely at codons 15 (TGG-->TGA), 39 (C-->T), or 127 (C-->T). Primer extension analysis after erythroid differentiation… CONTINUE READING

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