Loss of the POGZ gene in mice makes certain genes inaccessible and prevents their expression.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
In mice with a mutated copy of SHANK3, stress induces social deficits and alters gene expression in certain excitatory neurons. But eliminating a stress-related protein that regulates SHANK3 restores typical social functioning in the animals.
As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.
Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.
Mice missing a copy of the gene SENP1 have atypical social behavior likely due to a signaling imbalance in the retrosplenial cortex.
Many genes linked to autism are switched on in the brain’s glia, cells that help neurons develop and synapses form.
An online database called NyuWa catalogs genetic variations among nearly 3,000 individuals and provides a comprehensive reference genome for the Han people.
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.