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

S. H. Orkin, S. E. Antonarakis, H. H. Kazazian

Research output: Contribution to journalArticle

Abstract

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 languageEnglish (US)
Pages (from-to)8679-8681
Number of pages3
JournalJournal of Biological Chemistry
Volume259
Issue number14
StatePublished - Jan 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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