Objective: Information on single nucleotide polymorphisms in the estrogen receptor beta (ERβ) gene is lacking for the African American population. Methods: In this study, we systematically screened the coding and flanking intron regions of the ERβ gene in 49 healthy African American individuals. Results: We detected four novel variants, of which one variant (963T→C) resulted in amino acid change from phenylalanine to leucine at position 289, referred to as ERβF289L. This receptor variant was characterized in vitro for transcriptional activity and ligand-binding. These studies revealed that ERβF289L had reduced estrogen binding affinity and impaired response to 17β-estradiol induced transactivation compared to the wild-type ERβ. Conclusion: This novel variant might confer genetic susceptibility to certain endocrine related diseases in African Americans.
|Original language||English (US)|
|Number of pages||5|
|Journal||Pharmacogenetics and Genomics|
|State||Published - May 1 2006|
- Estrogen receptor beta
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