Sequence analysis of the 3' hypoxia-responsive element of the human erythropoietin gene in patients with erythrocytosis

M J Percy, M F McMullin, T R Lappin

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13 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)132-4
Number of pages3
JournalBiochemical and Molecular Medicine
Volume62
Issue number1
Publication statusPublished - Oct 1997

Bibliographical note

Copyright 1997 Academic Press.

Keywords

  • Anoxia
  • Binding Sites
  • DNA-Binding Proteins
  • Erythropoietin
  • Humans
  • Hypoxia-Inducible Factor 1
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • Nuclear Proteins
  • Polycythemia
  • Transcription Factors

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