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δ°-Thalassemia incisof βKnossos-globin gene Normal structure and normal transient expression of the δ-globin gene

Authors
Journal
FEBS Letters
0014-5793
Publisher
Wiley Blackwell (John Wiley & Sons)
Publication Date
Volume
252
Identifiers
DOI: 10.1016/0014-5793(89)80888-9
Keywords
  • Gene
  • δ-Globin
  • Dna Sequence Polymorphism
  • Thalassemia
  • Transient Expression

Abstract

Abstract We have previously described the first homozygous cases of Hb Knossos in an Algerian family. The Hb A 2 was completely absent, ascertaining the presence of a δ°-thalassemia determinant in cis of the β Knossoss gene. Here, we investigate the affected δ-globin gene. The complete DNA sequence of the gene and its 5′ and 3′ flanking regions was determined. Only two nucleotide changes were recorded: a C → T substitution at −199 and an AT insertion at −448 upstream from the cap site. To examine the involvement of these changes in gene function, the δ-gene was subcloned in an expression vector and introduced into COS cells. Analysis of RNA derived from these cells, using an S 1 protection assay and dot-blot hybridization, revealed qualitatively and quantitatively normal transcription. The loss of δ-globin gene activity in vivo may be due to the alteration of a tissue-specific control.

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