title: Sequence analysis of the 3' hypoxia-responsive element of the human erythropoietin gene in patients with erythrocytosis.
abstract: Erythrocytosis arises from a variety of pathogenic mechanisms. We sequenced a 256-bp region 3' to the erythropoietin (Epo) gene which included a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- and HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the HIF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms cause erythrocytosis.
authors.affiliation: Institute of Clinical Sciences, The Queen's University of Belfast, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland.
authors.forename: M J
authors.initials: MJ
authors.lastname: Percy
authors.forename: M F
authors.initials: MF
authors.lastname: McMullin
authors.forename: T R
authors.initials: TR
authors.lastname: Lappin
mesh_terms: D001665:Binding Sites; D004268:DNA-Binding Proteins / Q000378:metabolism; D004921:Erythropoietin / Q000235:genetics*; D006801:Humans; D000860:Hypoxia; D051793:Hypoxia-Inducible Factor 1; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D009687:Nuclear Proteins / Q000378:metabolism; D011086:Polycythemia / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; C497442:HIF1A protein, human; D051793:Hypoxia-Inducible Factor 1; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D009687:Nuclear Proteins; D014157:Transcription Factors; D004921:Erythropoietin