Article
Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1992
Baserga S J, Benz E J
Abstract excerpt
A common mutation causing thalassemia in Mediterranean populations is an amber (UAG) nonsense mutation at the 39th codon of the human beta-globin gene, the beta-39 mutation. Studies of mRNA metabolism in erythroblasts from patients with beta-39 thalassemia and studies using heterologous transfection systems have suggested the possibility that this mutation not only affects protein synthesis but also alters mRNA...
Topics
- Blotting, Northern
- Blotting, Southern
- Cytoplasm
- Gene Expression
- Globins
- Humans
- Mutation
- Poly A
- RNA Splicing
- RNA, Messenger
- Thalassemia
- Transcription, Genetic