Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene Alexandros Onoufriadis, Michael.

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Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene Alexandros Onoufriadis, Michael A. Simpson, A. David Burden, Jonathan N. Barker, Richard C. Trembath, Francesca Capon Journal of Investigative Dermatology Volume 132, Issue 4, Pages 1297-1299 (April 2012) DOI: 10.1038/jid.2011.431 Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Identification of four previously unreported sequence variants in the RNF114 promoter. The position of each substitution is indicated by a black arrow. All nucleotide changes were validated with the use of forward and reverse sequencing primers. Journal of Investigative Dermatology 2012 132, 1297-1299DOI: (10.1038/jid.2011.431) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 RNF114 promoter variants affect reporter activity and Sp1 binding. (a) Activity of wild-type and variant promoter constructs transiently transfected into HeLa cells, together with a β-galactosidase reporter. Promoter constructs carrying the c.-64C>A and c.-41C>T alleles had markedly decreased promoter activity, compared with those bearing the wild-type allele. Plots represent the mean±SD of three experiments, each carried out in triplicate. EV, empty vector; WT, wild type; **P<0.005, ***P<0.001. (b) Binding of nuclear extracts to wild-type and variant double-stranded DNA probes. Sp1-deficient S2 cells were transiently transfected with pPAC-Sp1 and nuclear extracts were incubated with wild-type (c.-64C; c.-41C) or variant (c.-64A; c.-41T) biotin-labeled probes. A probe bearing a consensus Sp1 binding site was used as a positive control and nuclear extracts from untransfected S2 cells were included as negative controls. The position of gel shifts (indicating the occurrence of DNA-protein binding) is shown by a black arrow. The experiment was repeated three times with equivalent results. Journal of Investigative Dermatology 2012 132, 1297-1299DOI: (10.1038/jid.2011.431) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions