Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.

The Ras GTPase-activating protein SYNGAP1 plays a central role in synaptic plasticity, and de novo SYNGAP1 mutations are among the most frequent causes of autism and intellectual disability. How SYNGAP1 is regulated during development and how to treat SYNGAP1-associated haploinsufficiency remain challenging questions. Here, we characterize an alternative 3' splice site (A3SS) of SYNGAP1 that induces nonsense-mediated mRNA decay (A3SS-NMD) in mouse and human neural development.

Deficient mechanosensation in decreases precipice response in .

The precipice response in is a little-understood phenomenon in which worms move rapidly away from edges. We hypothesized that mechanosensation underlies the precipice response and that mechanosensory mutants would exhibit the precipice response less often than N2 wild type worms. We found that mutants, with severe loss of mechanosensation, exhibited the precipice response at a lower rate than N2, but and mutants, with partial loss of response to mechanical stimuli, responded at a similar rate to N2.