Effect of the SF1 mutants on transcriptional activity of the minimal promoters of in tsa 201 cells as described in themethods section

B: Effect of the SF1 mutants on synergistic activation of the beta promoter bySF1 and Egr1.C,D: Effect of the SF1 mutants on transcriptional activity of the and promoter in TM3 (mouse Leydig) and TM4 (mouse Sertoli) cells, respectively. E: Studies of a potential dominant negative e¡ect ofmutant SF1 were performed by transfecting increasing amounts of wild–type (WT) ormutant SF1 (p.C33S, p.R84H, p.Y138X) expression vector (0,1,2,5,10 ng) with1–ng empty vector (−) or1–ngWT (1) and a promoter reporter (100 ng) in tsa 201cells. Additional empty vector was transfected to keep DNA quantities consistent.Data represent the mean 7± standard error of themean (SEM) of three independent experiments, each performed in triplicate.Copyright information:Taken from "Five novel mutations in steroidogenic factor 1 (SF1, ) in 46,XY patients with severe underandrogenization but without adrenal insufficiency"Human Mutation 2008;29(1):59-64.Published online Jan 2008PMCID:PMC2359628.Copyright © 2008 Wiley-Liss, Inc., A Wiley Company