Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.
Women who carry genetic variants tied to autism have an elevated chance of experiencing pregnancy-related events linked to the condition in their children.
By breaking rodent vocalizations into parts, TrackUSF distinguishes rats with mutations in the SHANK3 gene from their wildtype counterparts.
The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.
About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.
An overabundance of ribosomes drives an imbalance of proteins produced from long and short genetic transcripts in a mouse model of fragile X syndrome.
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Long cast in supporting roles in the brain, astrocytes are now emerging as primary players in certain characteristics of autism and related conditions.
The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.