Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.

@article{Orkin1983InactivationOA,
  title={Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.},
  author={Stuart H Orkin and Julianne P. Sexton and Sabra C. Goff and Haig H. Kazazian},
  journal={The Journal of biological chemistry},
  year={1983},
  volume={258 12},
  pages={7249-51}
}
The cloned beta-globin gene of an Indian patient with beta-thalassemia revealed a 25-nucleotide deletion at the 3'-end of the first intervening sequence, including the acceptor RNA splicing site. RNA transcripts of this mutant gene produced following transfection into HeLa cells remained unspliced at both the first intervening sequence donor and acceptor sites. This beta-thalassemic gene is the first in which critical sequences of an acceptor splice junction are mutated and associated with… CONTINUE READING