Skip Navigation


Carcinogenesis Advance Access originally published online on June 17, 2004
Carcinogenesis 2004 25(11):2067-2073; doi:10.1093/carcin/bgh215
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
25/11/2067    most recent
bgh215v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (5)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Zhao, C.
Right arrow Articles by Dahlman-Wright, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Zhao, C.
Right arrow Articles by Dahlman-Wright, K.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Carcinogenesis vol.25 no.11 © Oxford University Press 2004; all rights reserved.

ARTICLE

Identification of a functional variant of estrogen receptor beta in an African population

Chunyan Zhao1, Li Xu1, Michio Otsuki1, Gudrun Toresson1, Konrad Koehler2, Qiang Pan-Hammarström1, Lennart Hammarström1, Stefan Nilsson2, Jan-Åke Gustafsson1 and Karin Dahlman-Wright1,3

1 Karolinska Institute, Department of Biosciences at Novum, S-141 57 Huddinge, Sweden and 2 KaroBio AB, Novum, S-141 57 Huddinge, Sweden

3 To whom correspondence should be addressed Email: kada{at}cbt.ki.se

In this study, we identified five novel polymorphisms in the estrogen receptor beta (ERß) gene in an African population. Interestingly, two of these variants are expected to change the amino acid sequence of the ERß protein. These changes correspond to an isoleucine to valine substitution at amino acid position 3 (I3V) and a valine to glycine substitution at position 320 (V320G), respectively. The functional consequences of these amino acid substitutions were determined in different in vitro assays. The I3V mutation displayed no differences with regard to transcriptional activity in a reporter assay, as compared with the wild-type receptor. The V320G mutation, however, showed significantly decreased maximal transcriptional activity in a reporter assay, although its binding affinity for 17ß-estradiol was not affected. A pull-down assay indicated that the interaction of full-length TIF2 with hERßV320G was weaker than with hERßwt. Moreover, surface plasmon resonance analysis revealed reduced interaction of the V320G ERß variant with the NR box I and II modules of TIF2. To our knowledge, this represents the first identification of a functional polymorphism in the ERß gene. This novel polymorphism provides a tool for human genetic studies of diseases in the African population.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Cancer Res.Home page
C. Zhao, J. Matthews, M. Tujague, J. Wan, A. Strom, G. Toresson, E. W-F. Lam, G. Cheng, J.-A. Gustafsson, and K. Dahlman-Wright
Estrogen Receptor {beta}2 Negatively Regulates the Transactivation of Estrogen Receptor {alpha} in Human Breast Cancer Cells
Cancer Res., April 15, 2007; 67(8): 3955 - 3962.
[Abstract] [Full Text] [PDF]

Home page
 Am J EpidemiolHome page
L. Gennari, D. Merlotti, V. De Paola, A. Calabro, L. Becherini, G. Martini, and R. Nuti
Estrogen Receptor Gene Polymorphisms and the Genetics of Osteoporosis: A HuGE Review
Am. J. Epidemiol., February 15, 2005; 161(4): 307 - 320.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.