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. 2021 Feb 23;41(3):e00590-20. doi: 10.1128/MCB.00590-20

FIG 1.

FIG 1

Truncating RECQL4 mutations G522Efs and R347X affect protein expression and localization differently and are homozygous embryo lethal. (A) Schematic illustration of RECQL4 mutations reported in RTS patients and murine mutations used in this study. Image generated using Protein Painter (PeCan portal, St Jude’s). (B) Recql4 mutations and their corresponding predicted protein products. (C) Breeding data from 49 litters of Recql4G522Efs/+ and 24 litters of Recql4R347X/+ intercrosses. Observed and expected Mendelian frequencies of the indicated genotypes are shown. No statistical significance was achieved. (D) Western blot of thymocyte lysates from Recql4+/+, Recql4G522Efs/+, and Recql4R347X/+ probed with anti-mouse RECQL4 (clone 3B10; top). The same blot reprobed with antiactin (bottom). (E) Western blot of lysates from HoxB8 immortalized R26-CreERT2 Recql4+/+ infected with MSCV puro 3×Flag-RECQL4 and probed with anti-RECQL4 (clone 3B10; top) and M2 anti-Flag antibody (bottom). (F and G) Fluorescent microscopy of RECQL4 expression in Kusa 4b10 cells with murine mCherry-fused WT, K525A, G522Efs, and R347X (F) and human EGFP-fused WT, K508A, C525Efs, and R350Gfs (G).