Eric Morrow, Stephen Sheinkopf and colleagues reported the characteristics of the first 1,000 participants in the RI-CART study, a population-based cohort of autistic individuals in Rhode Island.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Genevieve Konopka and colleagues reported important roles for Foxp1 in particular subclasses of the spiny projection neurons in the striatum, with downstream effects on striatal-dependent circuits and behaviors.
Paraventricular oxytocin neurons support social behavior
Garret Stuber and colleagues used in vivo calcium imaging to show that a population of oxytocin-positive (OT) neurons in the paraventricular nucleus of the hypothalamus responds preferentially to social stimuli and is necessary for regulating social behavior. Reduced number of OT neurons was associated with social deficits in Shank3b KO mice.
USP9X mutation defines a neurodevelopmental syndrome
Michael Piper and colleagues confirmed and extended the association of USP9X loss-of-function mutations with a neurodevelopmental syndrome in both sexes, driven by changes in multiple signaling pathways.
Exome sequencing identifies new ASD risk genes
Joseph Buxbaum and colleagues in the Autism Sequencing Consortium reported the largest exome sequencing study of ASD to date, identifying 102 risk genes at a false discovery rate of 0.1 or less.
Shank3 is necessary for homeostatic plasticity
Gina Turrigiano and colleagues showed that loss of Shank3 disrupts homeostatic plasticity and that this deficit can be rescued by the mood-stabilizing drug lithium (Li+).
Shank3 mutation R1117X affects interneuron function
Alex Kwan and colleagues used in vivo calcium imaging to show that a mutation in Shank3 associated with schizophrenia affects the activity of inhibitory neurons in the cortex, ultimately leading to enhanced activity of excitatory neurons and altered behavior in mice.
C. elegans screen for ASD risk gene–associated phenotypes
Catharine Rankin, Kurt Haas, Paul Pavlidis and colleagues used machine vision to find that mutations linked to ASD risk genes are associated with changes in habituation of response probability in C. elegans
Cell-type-specific effects of loss of autophagy in the striatum
David Sulzer and colleagues used conditional knockout mice of Atg7, a protein involved in autophagy, to study the effects of loss of autophagy on the structure and function of striatal spiny projection neurons, as well as on behaviors relevant to ASD.
Genetic mutations linked to Kleefstra syndrome converge on similar neuronal hyperactivity phenotypes
Nael Nadif Kasri and colleagues used micro-electrode array assays to demonstrate common neuronal network phenotypes associated with genes underlying Kleefstra spectrum syndrome.