A base substitution (C → T) at position -88 relative to the cap site was identified in the β-globin gene cloned from an individual with a mild form of β-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in β-globin mRNA production. RNA processing was normal. The -88 β-thalassemia mutation lends further support for the in vivo role of the distal element in transcription.
|Original language||English (US)|
|Number of pages||3|
|Journal||Journal of Biological Chemistry|
|State||Published - 1984|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology