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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




Journal article


Molecular and cellular biology

Publication Date





4679 - 4689


MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, United Kingdom.


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