Article
Genetic variants and mutations of PPM1D control the response to DNA damage.
Cell cycle (Georgetown, Tex.) - 15 Aug 2013
Dudgeon Crissy, Shreeram Sathyavageeswaran, Tanoue Kan, Mazur Sharlyn J, Sayadi Ahmed, Robinson Robert C, Appella Ettore, Bulavin Dmitry V
Abstract excerpt
The Wip1 phosphatase is an oncogene that is overexpressed in a variety of primary human cancers. We were interested in identifying genetic variants that could change Wip1 activity. We identified 3 missense SNPs of the human Wip1 phosphatase, L120F, P322Q, and I496V confer a dominant-negative phenotype. On the other hand, in primary human cancers, PPM1D mutations commonly result in a gain-of-function phenotype,...
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