English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Open

Presents the pdf analysis as premium feature

PDF Analysis

Insights

Presents the summarisation as premium feature

Summarisation

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1–2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we present functional data from  syngap1  and  shank3  zebrafish loss-of-function models of ASD.  SYNGAP1 , a synaptic Ras GTPase activating protein, and  SHANK3,  a synaptic scaffolding protein, were chosen because of mounting evidence that haploinsufficiency in these genes is highly penetrant for ASD and intellectual disability (ID). Orthologs of both  SYNGAP1  and  SHANK3  are duplicated in the zebrafish genome and we find that all four transcripts ( syngap1a ,  syngap1b, shank3a  and  shank3b ) are expressed at the earliest stages of nervous system development with pronounced expression in the larval brain. Consistent with early expression of these genes, knockdown of  syngap1b  or  shank3a  cause common embryonic phenotypes including delayed mid- and hindbrain development, disruptions in motor behaviors that manifest as unproductive swim attempts, and spontaneous, seizure-like behaviors. Our findings indicate that both  syngap1b  and  shank3a  play novel roles in morphogenesis resulting in common brain and behavioral phenotypes.

human molecular genetics

Two knockdown models of the autism genes  SYNGAP1  and  SHANK3  in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis