Human-specific BOLA2 duplication at chromosomal region 16p11.2 and the susceptibility of this locus to recurrent rearrangements Evan Eichler reconstructs the evolution of chromosome 16p11.2 and finds most disease-causing rearrangements map within a H. sapiens-specific duplication containing BOLA2.
Microglia excessively engulf synapses weakened by loss of MeCP2 Beth Stevens shows that, in MeCP2 null mice, microglia excessively eliminate presynaptic inputs, targeting synapses previously weakened by MeCP2 loss in other CNS cell types.
A new resource to mine recessive disease genes Joseph Gleeson and colleagues have generated a publically accessible whole-exome variome from 1,111 unrelated individuals within the Greater Middle East Variome Consortium.
Deficits in peripheral sensory neurons contribute to autism-like behaviors in mice David Ginty shows that four different mice harboring mutations in ASD risk genes have altered peripheral sensory neuron processing that contributes to ASD-like phenotypes.
A role for SHANK3 in social reward Christian Luscher and Camilla Bellone show that ASD- model mice with reduced SHANK3 in the VTA have altered excitatory synapse transmission and impaired social behaviors.
Brain connectivity patterns that predict social communication skills Using fMRI in typically developing children, Vinod Menon finds one’s mother’s voice activates a network of brain regions predictive of a child’s social communication skills.
Shared sets of genes downregulated in autism and schizophrenia Dan Arking compares large-scale transcriptome datasets from neurotypical individuals and those with autism, schizophrenia and bipolar disorder.
Low-cost sequencing method for genomic copy number analysis Michael Wigler and Dan Levy develop a new fragmentation and sequencing method for CNV analysis that generates high-resolution CNV data at lower cost than traditional analyses.