Tag: epigenetics

Assessing roles for autism-linked epigenetic factors in activity-dependent synapse elimination

Sensory experience and learning refine circuits through elimination of excitatory synapses, a process that depends on activity-driven transcription control and that is deficient in humans with ASD and mouse ASD models. Kimberly Huber and Tae-Kyung Kim will determine the role of ASD-linked epigenetic factors in activity-driven synapse elimination using mouse model systems and identify their gene regulatory networks at the single neuron level.

Probing the development and reversibility of autism-related phenotypes in SETD5 conditional knockout mice

Single-nucleotide polymorphism genotyping and whole-exome and whole-genome sequencing studies have been key for the identification of genetic loci and mutations underlying autism spectrum disorder (ASD) susceptibility. Although none of the risk genes identified so far contribute to more than 1 percent of ASD cases, overall the search for ASD treatments can profoundly benefit from the study of rare and syndromic forms of ASDs.

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