Ontology highlight
ABSTRACT:
SUBMITTER: Bianchi FT
PROVIDER: S-EPMC5318669 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Bianchi Federico Tommaso FT Bianchi Federico Tommaso FT Tocco Chiara C Pallavicini Gianmarco G Liu Yifan Y Vernì Fiammetta F Merigliano Chiara C Bonaccorsi Silvia S El-Assawy Nadia N Priano Lorenzo L Gai Marta M Berto Gaia Elena GE Chiotto Alessandra Maria Adelaide AM Sgrò Francesco F Caramello Alessia A Tasca Laura L Ala Ugo U Neri Francesco F Oliviero Salvatore S Mauro Alessandro A Geley Stephan S Gatti Maurizio M Di Cunto Ferdinando F
Cell reports 20170201 7
Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors. We show that CITK loss induces DNA damage accumulation and chromosomal instability in both mammals and Drosophila. CITK-deficient cells display "spontaneous" DNA damage, increased sensitivity to ionizing radiation, and defective recovery from radiation-induced DNA lesions. In CITK ...[more]