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The major positive regulatory activity of the human alpha-globin gene complex has been localized to an element associated with a strong erythroid-specific DNase I hypersensitive site (HS -40) located 40 kb upstream of the zeta 2-globin mRNA cap site. Footprint and gel shift analyses of the element have demonstrated the presence of four binding sites for the nuclear factor GATA-1 and two sites corresponding to the AP-1 consensus binding sequence. This region resembles one of the major elements of the beta-globin locus control region in its constitution and characteristics; this together with evidence from expression studies suggests that HS -40 is a primary element controlling alpha-globin gene expression.

Original publication

DOI

10.1128/mcb.11.9.4679-4689.1991

Type

Journal article

Journal

Mol Cell Biol

Publication Date

09/1991

Volume

11

Pages

4679 - 4689

Keywords

Base Sequence, DNA, Deoxyribonuclease I, Drug Resistance, Electrophoresis, Polyacrylamide Gel, Gene Expression Regulation, Globins, Humans, Molecular Sequence Data, Multigene Family, Neomycin, Regulatory Sequences, Nucleic Acid, Restriction Mapping, Transformation, Genetic