Human estrogen receptor β 548 is not a common variant in three distinct populations

Li Xu, Qiang Pan-Hammarström, Asta Försti, Kari Hemminki, Lennart Hammarström, Damian Labuda, Jan Åke Gustafsson, Karin Dahlman-Wright

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Several isoforms of estrogen receptor (ER) β (also known as NR3A2) have been reported, including variants with different N-terminal ends. In rodents, two in-frame initiation codons (ATGs) are used to produce proteins of 530 and 549 amino acids, respectively. In humans, the upstream ATG is out of frame in all clones reported, until recently, when human clones with an extra A-T base pair placing the upstream ATG in frame were reported. The authors suggested that this could represent a novel polymorphism in the ERβ gene. Because human ERβ548 (hERβ548) and hER•530 display different functional characteristics in vitro, it is of interest to determine if this variant constitutes a polymorphism in human populations. We therefore determined the frequency of this novel isoform in several populations including African (n = 96), Caucasian (n = 100), and Asian (n = 128) subjects using denaturing HPLC. We did not detect any alleles that correspond to hERβ548 in these samples or in additional samples of heterogeneous origin. It is concluded that hERβ548 is not a common variant in Africans, Caucasians, or Asians.

Original languageEnglish (US)
Pages (from-to)3541-3546
Number of pages6
Issue number8
StatePublished - Aug 1 2003

ASJC Scopus subject areas

  • Endocrinology


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