Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.

ABSTRACT:

Background

DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism. To understand the molecular mechanisms underlying microcephaly and autism spectrum disorders (ASD), we established an in vivo dyrk1aa KO model using zebrafish.

Methods

We identified a patient with a mutation in the

SUBMITTER: Kim OH 

PROVIDER: S-EPMC5622473 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature