SHANK3-variant effects in primates, and more

Primate model: Macaques carrying a single copy of a SHANK3 variant, an animal model of Phelan-McDermid syndrome, display more repetitive behaviors and altered sociability than do control monkeys, according to a new paper. The investigators used a deep-learning model to analyze behavioral output from seven monkeys carrying the SHANK3 variant and eight wildtype monkeys. Monkeys in the experimental group also had poorer sleep than controls, along with selective cognitive impairments and altered functional connectivity in the brains. The Transmitter previously covered a 2018 study that used CRISPR to delete a portion of the SHANK3 gene in a monkey and reported distinctive repetitive behaviors and avoidance of social interactions. 

Autism research spotted this week: 

• “Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects” Cell
• “Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study” Molecular Autism
• “Autism subtypes identified using cross-species functional connectivity analyses” Nature Neuroscience
  See also: “Too much or too little brain synchrony may underlie autism subtypes”

• “Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target” Neuron