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. 2023 Jul 18;110(8):1394–1413. doi: 10.1016/j.ajhg.2023.06.013

Figure 5.

Figure 5

Subcellular localization of WT DHX9 and representative variant proteins

(A) Subcellular localization of EGFP-tagged WT DHX9, NLS p.Lys1163Arg (severe NDD), truncating p.Arg229Ter (mild NDD), and CMT p.Ala1255Thr proteins in MCF-7 and PC-3 human cells. Nucleolar loci were co-stained by the FBL marker, and DNA was stained by DAPI. Scale bar: 10 μm.

(B) Endogenous localization of DHX9 in fibroblasts from the proband with severe NDD and the p.Lys1163Arg NLS variant as well as the unaffected father. Scale bar: 40 μm.

(C) Staining of R-loop formation by the S9.6 marker and of DSBs by the γ-H2AX marker in MCF-7 cells producing the WT or p.Arg141Gln protein. Scale bar: 10 μm. Also see Figures S7 and S8.