Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair
Hanzlikova, Hana;Prokhorova, Evgeniia;Krejcikova, Katerina;Cihlarova, Zuzana;Kalasova, Ilona;Kubovciak, Jan;Sachova, Jana;Hailstone, Richard;Brazina, Jan;Ghosh, Shereen;Cirak, Sebahattin;Gleeson, Joseph G.;Ahel, Ivan;Caldecott, Keith W.;
Nature communications2020Vol. 11pp. 1-13
56
hanzlikova2020pathogenicnature
Abstract
Defects in DNA single-strand break repair are associated with neurodegenerative disease. Here the authors reveal that mutations in ARH3 interfere with the catabolism of mono-(ADP-ribose) and lead to its accumulation on core histones following repair of endogenous or exogenous DNA single-strand breaks.