Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Fernando Gomez-Herreros
PROVIDER: E-GEOD-54628 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Gómez-Herreros Fernando F Schuurs-Hoeijmakers Janneke H M JH McCormack Mark M Greally Marie T MT Rulten Stuart S Romero-Granados Rocío R Counihan Timothy J TJ Chaila Elijah E Conroy Judith J Ennis Sean S Delanty Norman N Cortés-Ledesma Felipe F de Brouwer Arjan P M AP Cavalleri Gianpiero L GL El-Khamisy Sherif F SF de Vries Bert B A BB Caldecott Keith W KW
Nature genetics 20140323 5
Topoisomerase II (TOP2) removes torsional stress from DNA and facilitates gene transcription by introducing transient DNA double-strand breaks (DSBs). Such DSBs are normally rejoined by TOP2 but on occasion can become abortive and remain unsealed. Here we identify homozygous mutations in the TDP2 gene encoding tyrosyl DNA phosphodiesterase-2, an enzyme that repairs 'abortive' TOP2-induced DSBs, in individuals with intellectual disability, seizures and ataxia. We show that cells from affected ind ...[more]