Functional analysis of transcriptional activity of cytosine and adenine (CA) repeats polymorphism in the estrogen receptor β gene

Journal of Toxicological Sciences

Volumn 33, Issue 2, 2008, Pages 237-240

  Ugai, Kanako ^a   Nishimura, Kazuhiro ^a   Fukino, Katsumi ^a   Nakamura, Tomonori ^a   Ueno, Koichi ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Estrogen receptor ; Microsatellite; Polymorphism; Transcription

Indexed keywords

ADENINE; CYTOSINE; ESTROGEN RECEPTOR BETA;

ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE CONSTRUCT; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; NORMAL HUMAN; RECEPTOR GENE; TANDEM REPEAT; TRANSCRIPTION INITIATION;

EID: 45749127746     PISSN: 03881350     EISSN: 18803989     Source Type: Journal    
DOI: 10.2131/jts.33.237     Document Type: Article

References (22)

1. Agarwal, A.K., Giacchetti, G., Lavery, G., Nikkila, H., Palermo, M., Ricketts, M., McTernan, C., Bianchi, G., Manunta, P., Strazzullo, P., Mantero, F., White, P.C. and Stewart, P.M. (2000): CA-repeat polymorphism in intron 1 of HSD11B2 effects on gene expression and salt sensitivity. Hypertension, 36, 187-194.
2. Anghel, A., Raica, M., Marian, C., Ursoniu, S. and Mitrasca, O. (2006): Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer. J. Cancer Res. Clin. Oncol., 132, 727-733.
3. Buerger, H., Packeisen, J., Boecker, A., Tidow, N., Kersting, C., Bielawski, K., Isola, J., Yatabe, Y., Nakachi, K., Boecker, W. and Brandt, B. (2004): Allelic length of a CA dinucleotide repeat in the egfr gene correlates with the frequency of amplifications of this sequence-first results of an inter-ethnic breast cancer study. J. Pathol., 203, 545-550.
4. Comings, D.E. (1998): Polygenic inheritance and micro/minisatellites. Mol. Psychiatry, 3, 21-31.
5. Forsell, C., Enmark, E., Axelman, K., Blomberg, M., Wahlund, L.O., Gustafsson, J.Å. and Lannfelt, L. (2001): Investigations of a CA repeat in the oestrogen receptor β gene in patients with Alzheimer's disease. Eur. J. Hum. Genet., 9, 802-804.
6. Fytili, P., Giannatou, E., Papanikolaou, V., Stripeli, F., Karachalios, T., Malizos, K. and Tsezou, A. (2005): Association of repeat polymorphisms in the estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis. Clin. Genet., 68, 268-277.
7. Gebhardt, F., Zänker, K.S. and Brandt, B. (1999): Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J. Biol. Chem., 274, 13176-13180.
8. Gennari, L., Merlotti, D., De Paola, V., Calabrò, A., Becherini, L., Martini, G. and Nuti, R. (2005): Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am. J. Epidemiol., 161, 307-320.
9. González, A.A., Carvajal, C.A., Riquelme, E., Krall, P.M., Munoz, C.R., Mosso, L.M., Kalergis, A.M. and Fardella, C.E. (2007): A polymorphic GT short tandem repeat affecting β-ENaC mRNA expression is associated with low renin essential hypertension. Am. J. Hypertens., 20, 800-806.
10. Gustafsson, J.Å. (2003): What pharmacologists can learn from recent advances in estrogen signalling. Trends Pharmacol. Sci., 24, 479-485.
11. Heldring, N., Pike, A., Andersson, S., Matthews, J., Cheng, G., Hartman, J., Tujague, M., Ström, A., Treuter, E., Warner, M. and Gustafsson, J.Å. (2007): Estrogen receptors: how do they signal and what are their targets. Physiol. Rev., 87, 905-931.
12. Hui, J., Hung, L.H., Heiner, M., Schreiner, S., Neumüller, N., Reither, G., Haas, S.A. and Bindereif, A. (2005): Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing. EMBO J., 24, 1988-1998.
13. Hui, J., Stangl, K., Lane, W.S. and Bindereif, A. (2003): HnRNP L stimulates splicing of the eNOS gene by binding to variable-length CA repeats. Nat. Struct. Biol., 10, 33-37.
14. Li, Y.C., Korol, A.B., Fahima, T., Beiles, A. and Nevo, E. (2002): Microsatellites: genomic distribution, putative functions and mutational mechanisms: a review. Mol. Ecol., 11, 2453-2465.
15. Lorenz, M., Hewing, B., Hui, J., Zepp, A., Baumann, G., Bindereif, A., Stangl, V. and Stangl, K. (2007): Alternative splicing in intron 13 of the human eNOS gene: a potential mechanism for regulating eNOS activity. FASEB J., 21, 1556-1564.
16. Negishi, E., Takeo, C., Nakajima, A., Hisamitsu, K., Amano, K., Hirai, A. and Ueno, K. (2006): Analysis of correlation between prescription drugs for climacteric disorders and CA repeat polymorphism of estrogen receptor β gene. Jpn. J. Pharm. Health Care Sci., 32, 21-26.
17. Riancho, J.A., Zarrabeitia, M.T., Valero, C., Sañudo, C., Mijares, V. and González-Macías, J. (2006): A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density. Eur. J. Endocrinol., 155, 53-59.
18. Saha, A., Dhir, A., Ranjan, A., Gupta, V., Bairwa, N. and Bamezai, R. (2005): Functional IFNG polymorphism in intron 1 in association with an increased risk to promote sporadic breast cancer. Immunogenetics, 57, 165-171.
19. Sharma, V.K., Kumar, N., Brahmachari, S.K. and Ramachandran, S. (2007): Abundance of dinucleotide repeats and gene expression are inversely correlated: a role for gene function in addition to intron length. Physiol. Genomics, 31, 96-103.
20. Tadokoro, K., Hashimoto, R., Tatsumi, M., Kamijima, K. and Kunugi, H. (2004): Analysis of enhancer activity of a dinucleotide repeat polymorphism in the neurotrophin-3 gene and its association with bipolar disorder. Neuropsychobiology, 50, 206-210.
21. Takeo, C., Negishi, E., Nakajima, A., Ueno, K., Tatsuno, I., Saito, Y., Amano, K. and Hirai, A. (2005): Association of cytosine-adenine repeat polymorphism of the estrogen receptor-β gene with menopausal symptoms. Gend. Med., 2, 96-105.
22. Tautz, D. and Renz, M. (1984): Simple sequences are ubiquitous repetitive components of eukaryotic genomes. Nucleic Acids Res., 12, 4127-4138.