Human Estrogen Receptor β-Gene Structure, Chromosomal Localization, and Expression Pattern1

作者：Eva Enmark, Markku Pelto‐Huikko, Kaj Grandien, Svetlana Bajalica‐Lagercrantz, Jacob Lagercrantz, Gabriel Fried, Magnus Nordenskjöld, Jan-Ακε Gustafsson · 发表于：The Journal of Clinical Endocrinology & Metabolism · 年份：1997 · DOI：10.1210/jcem.82.12.4470 · 被引用次数：1073 · 研究领域：Estrogen and related hormone effects、Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sperm and Testicular Function

The estrogen receptor (ER) is a ligand-activated transcription factor that mediates the effects of the steroid hormone 17 beta-estradiol, in both males and females. Since the isolation and cloning of ER, the consensus has been that only one such receptor exists. The finding of a second subtype of ER (ER beta) has caused considerable excitement amongst endocrinologists. In this article, we present data regarding the genomic structure and chromosomal localization of the human ER beta gene, demonstrating that two independent ER genes do exist in the human. Furthermore, we present data regarding the tissue distribution of human ER beta, showing that this receptor is expressed in multiple tissues. For instance, ER beta is found in developing spermatids of the testis, a finding of potential relevance for the ongoing debate on the effects of environmental estrogens on sperm counts. In addition, we find ER beta in ovarian granulosa cells, indicating that estrogens also participate in the regulation of follicular growth in the human.