Fig. 1: Three pathogenic variants of PRDM9 identified in premature ovarian insufficiency (POI) patients affected its methyltransferase activity. | Genetics in Medicine

Fig. 1: Three pathogenic variants of PRDM9 identified in premature ovarian insufficiency (POI) patients affected its methyltransferase activity.

From: Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency

Fig. 1

(a) Chromatograms of the three heterozygous variants. (b) The mutant amino acids were highly conserved in mammals. (c) PRDM9 c.229C>T (p.Arg77*) localized in the KRAB domain, before the nuclear localization signal (NLS) sequence; both PRDM9 c.638T>G (p.Ile213Ser) and PRDM9 c.677A>T (p.Lys226Met) localized on PR/SET domain (residues 195–415), which determined the methyltransferase activity of PRDM9. (d) HEK293 cells were transiently transfected with wild-type (WT) or mutant PRDM9 expression vectors, the subcellular location of PRDM9 protein were indicated by FLAG (green). Scale bar: 20 μm. (e) H3K4me3 was detected by western blot in HEK293 cells overexpressing empty vector (EV), wild-type (WT) or mutant PRDM9-FLAG. (f) The relative grayscale of H3K4me3 was calculated with the use of ImageJ, and compared between subgroups.

Back to article page