Figure 2: WRN c. 2500C > T (p. R834C) selectively reduces DNA helicase, but not DNA exonuclease, activity.

Endogenous WRN in lysates (1 mg total protein) prepared from control (CC), heterozygous (CT), and homozygous (TT) cells from four pedigrees (F14, F19, F26, and F33) was affinity purified with a polyclonal anti-WRN antibody. Immunoprecipitates containing WRN were assayed for either DNA helicase (a) or DNA exonuclease (b) activity. Unwinding activity was measured using a 3′-end blocked 20/46 nt partial DNA duplex substrate, while exonuclease activity was assessed in the presence of ATPγS using the unblocked substrate; both substrates were 5′-end labeled using γ[32P]ATP and T4 polynucleotide kinase. Reactions were incubated at 37 °C for 20 min and aliquots were electrophoresed through native 12% (helicase) or denaturing 14% (exonuclease) polyacrylamide gels. Radioactivity in bands was visualized on a PhosphorImager, and band intensities were quantified using Image J software. Enzymatic activity in heterozygous and homozygous cells was normalized to that of within-pedigree controls.