An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

ABSTRACT: Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead, have often been undervalued. However, some missense variants can be informative for developing a more profound understanding of disease pathogenesis and ultimately targeted therapies. Here we present an example of this by studying a missense variant in a well-known autism spectrum disorder (ASD) causing gene SHANK3. We analyzed Shank3's in vivo phosphorylation profile and identified S685 as one phosphorylation site where one ASD-linked variant has been reported. Detailed analysis of this variant revealed a novel functi

SUBMITTER: Wang L 

PROVIDER: S-EPMC6609509 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature