TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model.

ABSTRACT: The precise development of the neocortex is a prerequisite for higher cognitive and associative functions. Despite numerous advances that have been made in understanding neuronal differentiation and cortex development, our knowledge regarding the impact of specific genes associated with neurodevelopmental disorders on these processes is still limited. Here, we show that Taok2, which is encoded in humans within the autism spectrum disorder (ASD) susceptibility locus 16p11.2, is essential for neuronal migration. Overexpression of de novo mutations or rare variants from ASD patients disrupts neuronal migration in an isoform-specific manner. The mutated TAOK2α variants but not the TAOK2β variants impaired neuronal migration. Moreover, the TAOK2α isoform colocalizes with microtubules. Consequen

SUBMITTER: Scharrenberg R 

PROVIDER: S-EPMC9734055 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature