title: Topoisomerases interlink genetic network underlying autism.
abstract: DNA topoisomerases belong to the group of proteins that play an important role in the organizational dynamics of the human genome. Their enzymatic activity solves topological strain rising from DNA supercoiling occurring during transcription. DNA topoisomerases are especially important for transcription of genes involved in neurodevelopment. Disruption of topoisomerase activity in animal models resulted in impaired neurodevelopment and changed brain architecture. Recent research revealed that topoisomerases induced expression of the same group of genes as those associated with autism. Transcriptional inhibition of neuronal genes during critical stages of brain development may be responsible for pathology of neurodevelopmental disorders such as autism. In this review we aim to outline the role of topoisomerase in neurodevelopment and its possible linkage to neuropathology of autism.
authors.affiliation: Institute of Physiology, Faculty of Medicine, Comenius University, Sasinkova 2, 81372 Bratislava, Slovakia. Electronic address: vokalova@gmail.com.
authors.forename: Lenka
authors.initials: L
authors.lastname: Vokálová
authors.affiliation: Institute of Physiology, Faculty of Medicine, Comenius University, Sasinkova 2, 81372 Bratislava, Slovakia.
authors.forename: Jaroslava
authors.initials: J
authors.lastname: Durdiaková
authors.affiliation: Institute of Physiology, Faculty of Medicine, Comenius University, Sasinkova 2, 81372 Bratislava, Slovakia.
authors.forename: Daniela
authors.initials: D
authors.lastname: Ostatníková
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics*; D004264:DNA Topoisomerases, Type I / Q000235:genetics*; D053263:Gene Regulatory Networks / Q000235:genetics*; D006801:Humans
chemical_list: D004264:DNA Topoisomerases, Type I
keywords: ASD; Neurodevelopment; Topoisomerase