Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice.

ABSTRACT: SETD5, a gene linked to intellectual disability (ID) and autism spectrum disorder (ASD), is a member of the SET-domain family and encodes a putative histone methyltransferase (HMT). To date, the mechanism by which SETD5 haploinsufficiency causes ASD/ID remains an unanswered question. Setd5 is the highly conserved mouse homolog, and although the Setd5 null mouse is embryonic lethal, the heterozygote is viable. Morphological tracing and multielectrode array was used on cultured cortical neurons. MRI was conducted of adult mouse brains and immunohistochemistry of juvenile mouse brains. RNA-Seq was used to investigate gene expression in the developing cortex. Behavioral assays were conducted on adult mice. Setd5^+/- cortical neurons displayed significantly reduced synaptic density an

SUBMITTER: Moore SM 

PROVIDER: S-EPMC6336863 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature