TY - JOUR
T1 - Human estrogen receptor β 548 is not a common variant in three distinct populations
AU - Xu, Li
AU - Pan-Hammarström, Qiang
AU - Försti, Asta
AU - Hemminki, Kari
AU - Hammarström, Lennart
AU - Labuda, Damian
AU - Gustafsson, Jan Åke
AU - Dahlman-Wright, Karin
N1 - Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2003/8/1
Y1 - 2003/8/1
N2 - 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.
AB - 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.
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U2 - 10.1210/en.2002-0118
DO - 10.1210/en.2002-0118
M3 - Article
C2 - 12865336
AN - SCOPUS:0042816501
VL - 144
SP - 3541
EP - 3546
JO - Endocrinology
JF - Endocrinology
SN - 0013-7227
IS - 8
ER -