Skip to main content
. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Nat Genet. 2017 Feb 13;49(4):537–549. doi: 10.1038/ng.3790

Figure 2. Mutations in DONSON affect protein levels.

Figure 2

(a–b) DONSON mutations result in severely reduced levels of DONSON protein. Immunoblotting of cell extracts from lymphoblastoid (a) and fibroblast (b) cell lines derived from patients with mutations in DONSON. ATR was used as a loading control. The two blots from (a) originate from two independent gels. (c) The K489T, but not the S28R variant, associated with the DONSON haplotype affects protein levels. Cells were treated with doxycycline 48 h post siRNA transfection, and harvested for Western blot analysis 24 h later (n=2). Exogenous DONSON were detected using an anti-GFP antibody respectively. TOPBP1 was used as a loading control. Depletion of endogenous DONSON in these cells was confirmed by immunoblotting (Supplementary Fig. 2).