Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Hana Hanzlikova; Evgeniia Prokhorova; Katerina Krejcikova; Zuzana Cihlarova; Ilona Kalasova; Jan Kubovciak; Jana Sachova; Richard Hailstone; Jan Brazina; Shereen Ghosh; Sebahattin Cirak; Joseph G. Gleeson; Ivan Ahel; Keith W. Caldecott

doi:10.1038/s41467-020-17069-9

Nature Communications (Jul 2020)

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Hana Hanzlikova,
Evgeniia Prokhorova,
Katerina Krejcikova,
Zuzana Cihlarova,
Ilona Kalasova,
Jan Kubovciak,
Jana Sachova,
Richard Hailstone,
Jan Brazina,
Shereen Ghosh,
Sebahattin Cirak,
Joseph G. Gleeson,
Ivan Ahel,
Keith W. Caldecott

Affiliations

Hana Hanzlikova: Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences
Evgeniia Prokhorova: Sir William Dunn School of Pathology, University of Oxford
Katerina Krejcikova: Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences
Zuzana Cihlarova: Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences
Ilona Kalasova: Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences
Jan Kubovciak: Department of Genomics and Bioinformatics, Institute of Molecular Genetics of the Czech Academy of Sciences
Jana Sachova: Department of Genomics and Bioinformatics, Institute of Molecular Genetics of the Czech Academy of Sciences
Richard Hailstone: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer
Jan Brazina: Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer
Shereen Ghosh: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego
Sebahattin Cirak: Center for Molecular Medicine Cologne, University of Cologne
Joseph G. Gleeson: Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego
Ivan Ahel: Sir William Dunn School of Pathology, University of Oxford
Keith W. Caldecott: Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences

DOI: https://doi.org/10.1038/s41467-020-17069-9
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 13

Abstract

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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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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