Functional characterization of a novel variant of estrogen receptor beta identified in screening of DNA derived from African Americans

Pharmacogenetics and Genomics

Volumn 16, Issue 5, 2006, Pages 379-383

  Zhao, Chunyan ^a   Gustafsson, Jan Åke ^a   Dahlman Wright, Karin ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Estrogen receptor beta; Ligand; Transactivation; Variant

Indexed keywords

AMINO ACID; DNA; ESTRADIOL; ESTROGEN; ESTROGEN RECEPTOR BETA; LEUCINE; LIGAND; PHENYLALANINE;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; BINDING ASSAY; CONTROLLED STUDY; DNA FLANKING REGION; DNA SCREENING; ENDOCRINE DISEASE; GENE ACTIVITY; GENE IDENTIFICATION; GENETIC CODE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HORMONE RESPONSE; HUMAN; IN VITRO STUDY; INTRON; LIGAND BINDING; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN VARIANT; RECEPTOR BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSACTIVATION; WILD TYPE;

AFRICAN AMERICANS; AMINO ACID SUBSTITUTION; DNA; DOSE-RESPONSE RELATIONSHIP, DRUG; ESTRADIOL; ESTROGEN RECEPTOR BETA; GENETIC SCREENING; HUMANS; LEUCINE; LIGANDS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 33645931374     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/01.fpc.0000204996.76559.d0     Document Type: Article

References (28)

1. Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson J-Å. Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci U S A 1996; 93:5925-5930.
2. Nilsson S, Makela S, Treuter E, Tujague M, Thomsen J, Andersson G, et al. Mechanisms of estrogen action. Physiol Rev 2001; 81:1535-1565.
3. Fawell SE, Lees JA, White R, Parker MG. Characterization and colocalization of steroid binding and dimerization activities in the mouse estrogen receptor. Cell 1990; 60:953-962.
4. Webb P, Nguyen P, Valentine C, Lopez GN, Kwok GR, McInerney E, et al. The estrogen receptor enhances AP-1 activity by two distinct mechanisms with different requirements for receptor transactivation functions. Mol Endocrinol 1999; 13:1672-1685.
5. Kang HJ, Kim SW, Kim HJ, Ahn SJ, Bae JY, Park SK, et al. Polymorphisms in the estrogen receptor-alpha gene and breast cancer risk. Cancer Lett 2002; 178:175-180.
6. Weiderpass E, Persson I, Melhus H, Wedren S, Kindmark A, Baron JA. Estrogen receptor alpha gene polymorphisms and endometrial cancer risk. Carcinogenesis 2000; 21:623-627.
7. Sundarrajan C, Liao WX, Roy AC, Ng SC. Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders. J Clin Endocrinol Metab 2001; 86:135-139.
8. Brandi ML, Becherini L, Gennari L, Racchi M, Bianchetti A, Nacmias B, et al. Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease. Biochem Biophys Res Commun 1999; 265:335-338.
9. Ongphiphadhanakul B, Chanprasertyothin S, Payattikul P, Saetung S, Piaseu N, Chailurkit L, et al. Association of a G2014A transition in exon 8 of the estrogen receptor-alpha gene with postmenopausal osteoporosis. Osteoporos Int 2001; 12:1015-1019.
10. Lu H, Higashikata T, Inazu A, Nohara A, Yu W, Shimizu M, et al. Association of estrogen receptor-alpha gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2002; 22:817-823.
11. Ogawa S, Emi M, Shiraki M, Hosoi T, Ouchi Y, Inoue S. Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure. J Hum Genet 2000; 45:327-330.
12. Ogawa S, Hosoi T, Shiraki M, Orimo H, Emi M, Muramatsu M, et al. Association of estrogen receptor beta gene polymorphism with bone mineral density. Biochem Biophys Res Commun 2000; 269:537-541.
13. Nilsson M, Naessen S, Dahlman I, Linden Hirschberg A, Gustafsson J-Å, Dahlman-Wright K. Association of estrogen receptor beta gene polymorphisms with bulimic disease in women. Mol Psychiatry 2004; 9:28-34.
14. Westberg L, Baghaei F, Rosmond R, Hellstrand M, Landen M, Jansson M, et al. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab 2001; 86:2562-2568.
15. Nelson DA, Vande Vord PJ, Wooley PH. Polymorphism in the vitamin D receptor gene and bone mass in African-American and white mothers and children: a preliminary report. Ann Rheum Dis 2000; 59:626-630.
16. Bennett CL, Price DK, Kim S, Liu D, Jovanovic BD, Nathan D, et al. Racial variation in CAG repeat lengths within the androgen receptor gene among prostate cancer patients of lower socioeconomic status. J Clin Oncol 2002; 20:3599-3604.
17. Rebbeck TR, Jaffe JM, Walker AH, Wein AJ, Malkowicz SB. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1998; 90:1225-1229.
18. Zhao C, Xu L, Otsuki M, Toresson G, Koehler K, Pan-Hammarstrom Q, et al. Identification of a functional variant of estrogen receptor beta in an African population. Carcinogenesis 2004; 25:2067-2073.
19. Forsti A, Zhao C, Israelsson E, Dahlman-Wright K, Gustafsson J-Å, Hemminki K. Polymorphisms in the estrogen receptor beta gene and risk of breast cancer: no association. Breast Cancer Res Treat 2003; 79:409-413.
20. Rosenkranz K, Hinney A, Ziegler A, Hermann H, Fichter M, Mayer H, et al. Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants. J Clin Endocrinol Metab 1998; 83:4524-4527.
21. Hasegawa S, Miyoshi Y, Ikeda N, Egawa C, Tamaki Y, Monden M, et al. Mutational analysis of estrogen receptor-beta gene in human breast cancers. Breast Cancer Res Treat 2003; 78:133-134.
22. Pike AC, Brzozowski AM, Hubbard RE, Bonn T, Thorsell AG, Engstrom O, et al. Structure of the ligand-binding domain of oestrogen receptor beta in the presence of a partial agonist and a full antagonist. Embo J 1999; 18:4608-4618.
23. Elmore JG, Moceri VM, Carter D, Larson EB. Breast carcinoma tumor characteristics in black and white women. Cancer 1998; 83:2509-2515.
24. Burks DA, Littleton RH. The epidemiology of prostate cancer in black men. Henry Ford Hosp Med J 1992; 40:89-92.
25. Forster C, Makela S, Warri A, Kietz S, Becker D, Hultenby K, et al. Involvement of estrogen receptor beta in terminal differentiation of mammary gland epithelium. Proc Natl Acad Sci U S A 2002; 99:15578-15583.
26. Weihua Z, Makela S, Andersson LC, Salmi S, Saji S, Webster JI, et al. A role for estrogen receptor beta in the regulation of growth of the ventral prostate. Proc Natl Acad Sci U S A 2001; 98:6330-6335.
27. Gonzalgo ML, Isaacs WB. Molecular pathways to prostate cancer. J Urol 2003; 170:2444-2452.
28. Miyoshi Y, Noguchi S. Polymorphisms of estrogen synthesizing and metabolizing genes and breast cancer risk in Japanese women. Biomed Pharmacother 2003; 57:471-481.