The same nuclear proteins bind the proximal CACCC box of the human beta-globin promoter and a similar sequence in the enhancer.
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.
Giglioni
B
B
Centro per lo Studio sulla Patologia Cellulare, C.N.R., Milano, Italy.
Comi
P
P
Ronchi
A
A
Mantovani
R
R
Ottolenghi
S
S
D001483:Base Sequence; D002460:Cell Line; D004587:Electrophoresis, Agar Gel; D005914:Globins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000378:metabolism*; D011401:Promoter Regions, Genetic; D012689:Sequence Homology, Nucleic Acid; D013789:Thalassemia / Q000235:genetics; D014158:Transcription, Genetic
D009687:Nuclear Proteins; D005914:Globins