Ontology highlight
ABSTRACT:
SUBMITTER: Becherel OJ
PROVIDER: S-EPMC3623790 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Becherel Olivier J OJ Yeo Abrey J AJ Stellati Alissa A Heng Evelyn Y H EY Luff John J Suraweera Amila M AM Woods Rick R Fleming Jean J Carrie Dianne D McKinney Kristine K Xu Xiaoling X Deng Chuxia C Lavin Martin F MF
PLoS genetics 20130411 4
Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation (MSCI). Disruption of the Setx gene caused persistence of DNA doubl ...[more]