Ontology highlight
ABSTRACT:
SUBMITTER: Bohgaki M
PROVIDER: S-EPMC3876264 | biostudies-other | 2013 Dec
REPOSITORIES: biostudies-other
Bohgaki Miyuki M Bohgaki Toshiyuki T El Ghamrasni Samah S Srikumar Tharan T Maire Georges G Panier Stephanie S Fradet-Turcotte Amélie A Stewart Grant S GS Raught Brian B Hakem Anne A Hakem Razqallah R
Proceedings of the National Academy of Sciences of the United States of America 20131209 52
Defective signaling or repair of DNA double-strand breaks has been associated with developmental defects and human diseases. The E3 ligase RING finger 168 (RNF168), mutated in the human radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome, was shown to ubiquitylate H2A-type histones, and this ubiquitylation was proposed to facilitate the recruitment of p53-binding protein 1 (53BP1) to the sites of DNA double-strand breaks. In contrast to more upstream prote ...[more]