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. 2011 Mar 29;2:8. doi: 10.3389/fendo.2011.00008

Figure 3.

Figure 3

Identification of a loss-of-function mutation in the WRN helicase (A). Homozygous p.Arg732X mutation in the WRN gene found in the proband, leading to truncation of the RecQ helicase domain and loss of both RecQ C-terminal (RQC) and helicase RNAseD C-terminal (HRDC) domains which mediate interaction with DNA and proteins by the WRN protein. (B) Impairment of the DNA decatenation checkpoint in lymphoblastoid cells from the proband. The inset shows a representative pseudo-mitosis. WT, wild type; Unt, untreated; WRN (R368X), cells from a Werner's syndrome patient homozygous for the p.Arg368X pathogenic variant.