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


CONCLUSIONS
This novel variant might confer genetic susceptibility to certain endocrine related diseases in African Americans.
Zhao
Chunyan
C
Department of Biosciences and Nutrition, Novum, Karolinska Institute, S-141 57 Huddinge, Sweden. chunyan.zhao@cnt.ki.se
Gustafsson
Jan-Ake
JA
Dahlman-Wright
Karin
K
D001741:Black or African American / Q000235:genetics*; D019943:Amino Acid Substitution; D004247:DNA / Q000235:genetics*; D004305:Dose-Response Relationship, Drug; D004958:Estradiol / Q000494:pharmacology; D047629:Estrogen Receptor beta / Q000235:genetics* / Q000378:metabolism*; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D066298:In Vitro Techniques; D007930:Leucine / Q000378:metabolism; D008024:Ligands; D014158:Transcription, Genetic; D015533:Transcriptional Activation
D047629:Estrogen Receptor beta; D008024:Ligands; D004958:Estradiol; D004247:DNA; D007930:Leucine