Article
SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2020
Franzolin Elisa, Coletta Sara, Ferraro Paola, Pontarin Giovanna, D'Aronco Giulia, Stevanoni Martina, Palumbo Elisa, Cagnin Stefano, Bertoldi Loris, Feltrin Erika, Valle Giorgio, Russo Antonella, Bianchi Vera, Rampazzo Chiara
Abstract excerpt
In mammalian cells, the catabolic activity of the dNTP triphosphohydrolase SAMHD1 sets the balance and concentration of the four dNTPs. Deficiency of SAMHD1 leads to unequally increased pools and marked dNTP imbalance. Imbalanced dNTP pools increase mutation frequency in cancer cells, but it is not known if the SAMHD1-induced dNTP imbalance favors accumulation of somatic mutations in non-transformed cells. Here,...
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