The same nuclear proteins bind the proximal CACCC box of the human beta-globin promoter and a similar sequence in the enhancer

Biochem Biophys Res Commun. 1989 Oct 16;164(1):149-55. doi: 10.1016/0006-291x(89)91695-1.

Abstract

Using in vitro assays, we show that nuclear proteins related to the Sp1 and GT-1 factors bind to a CACCC box sequence in the human beta-globin enhancer, adjacent to binding sites for the erythroid-specific factor NFE1 and the ubiquitous factor CP1. The same proteins are known to bind to the proximal, but not to the distal, CACCC, box in the human beta-globin promoter. A C G mutation in the promoter CACCC box, known to cause beta-thalassemia, greatly decreases protein binding to the CACCC box; the same effect is obtained when this mutation is introduced into the enhancer CACCC box.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cell Line
  • Electrophoresis, Agar Gel
  • Globins / genetics*
  • Globins / metabolism
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins / metabolism*
  • Promoter Regions, Genetic*
  • Sequence Homology, Nucleic Acid
  • Thalassemia / genetics
  • Transcription, Genetic

Substances

  • Nuclear Proteins
  • Globins