Ontology highlight
ABSTRACT:
SUBMITTER: Tanaka A
PROVIDER: S-EPMC3309191 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Tanaka Akio A Weinel Sarah S Nagy Nikoletta N O'Driscoll Mark M Lai-Cheong Joey E JE Kulp-Shorten Carol L CL Knable Alfred A Carpenter Gillian G Fisher Sheila A SA Hiragun Makiko M Yanase Yuhki Y Hide Michihiro M Callen Jeffrey J McGrath John A JA
American journal of human genetics 20120216 3
ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder. Here, however, we report on a different kind of genetic disorder that is due to functionally compromised ATR activity, which translates into an au ...[more]