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The Journal of Clinical Endocrinology & Metabolism Vol. 82, No. 12 4258-4265
Copyright © 1997 by The Endocrine Society

Original Studies

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

Eva Enmark, Markku Pelto-Huikko, Kaj Grandien, Svetlana Lagercrantz, Jacob Lagercrantz, Gabriel Fried, Magnus Nordenskjöld and Jan-Åke Gustafsson

Center for Biotechnology (E.E.) and Department of Medical Nutrition (M.P-H., K.G., J-.G.), Novum, S-141 57 Huddinge, Sweden; Department of Molecular Medicine (S.L., J.L., M.N.), Karolinska Hospital, CMM, L8:01 and L8:02, S-171 76 Stockholm, Sweden; Department of Anatomy (M.P-H.), Medical School, University of Tampere and Department of Pathology (M.P-H.), Tampere University Hospital, Tampere, Finland; Department of Physiology and Pharmacology (G.F.), Karolinska Institute and Department of Woman and Child Health (G.F.), Karolinska Hospital, S-171 77 Stockholm, Sweden

Address correspondence and requests for reprints to: Jan-Åke Gustafsson, Department of Medical Nutrition, Huddinge University Hospital, NOVUM, Huddinge, Sweden S-141 86.

The estrogen receptor (ER) is a ligand-activated transcription factor that mediates the effects of the steroid hormone 17ß-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 (ERß) has caused considerable excitement amongst endocrinologists. In this article, we present data regarding the genomic structure and chromosomal localization of the human ERß gene, demonstrating that two independent ER genes do exist in the human. Furthermore, we present data regarding the tissue distribution of human ERß, showing that this receptor is expressed in multiple tissues. For instance, ERß 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 ERß in ovarian granulosa cells, indicating that estrogens also participate in the regulation of follicular growth in the human.




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