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

摘要

OBJECTIVE: Information on single nucleotide polymorphisms in the estrogen receptor beta (ERbeta) gene is lacking for the African American population. METHODS: In this study, we systematically screened the coding and flanking intron regions of the ERbeta 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 ERbetaF289L. This receptor variant was characterized in vitro for transcriptional activity and ligand-binding. These studies revealed that ERbetaF289L had reduced estrogen binding affinity and impaired response to 17beta-estradiol induced transactivation compared to the wild-type ERbeta. CONCLUSION: This novel variant might confer genetic susceptibility to certain endocrine related diseases in African Americans.