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. Author manuscript; available in PMC: 2010 Oct 1.
Published in final edited form as: Nat Genet. 2010 Mar 14;42(4):338–342. doi: 10.1038/ng.542

Figure 2.

Figure 2

PHF6 mutations and expression in T-ALL lymphoblasts. (a) Structure of the PHF6 protein including four nuclear localization signals and two imperfect PHD zinc finger domains. Overview of all PHF6 mutations identified in primary T-ALL samples and T-ALL cell lines. Filled circles represent nonsense and frameshift mutations, whereas missense mutations are depicted as open circles. Circles filled in gray indicate mutations identified in female T-ALL cases. (b) Representative DNA sequencing chromatograms of paired diagnosis and remission genomic T-ALL DNA samples showing a somatic mutation in exon 7 of PHF6. (c) Western blot analysis of T-ALL cell lines revealed complete loss of PHF6 protein expression in the PHF6 mutated T-ALL cell lines. (d) PHF6 immunostaining in the Jurkat and HPB-ALL, wild-type and mutant T-ALL cell lines, respectively. (e) Western blot analysis of PHF6 and gamma-H2AX expression in HEK293T cells upon PHF6 shRNA knockdown. Actin levels are shown as loading control.