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J. Biol. Chem., Vol. 259, Issue 14, 8679-8681, Jul, 1984

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC

SH Orkin, SE Antonarakis and HH Kazazian Jr

A base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-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 beta-globin mRNA production. RNA processing was normal. The -88 beta- thalassemia mutation lends further support for the in vivo role of the distal element in transcription.
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