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

1989; Elsevier BV; Volume: 164; Issue: 1 Linguagem: Inglês

10.1016/0006-291x(89)91695-1

1090-2104

Barbára Giglioni, Paola Comi, Antonella Ronchi, Roberto Mantovani, Sergio Ottolenghi,

Epigenetics and DNA Methylation

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.