Splice Variants Reveal Autism Gene Connections

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Research reveals that proteins involved in autism interact with many more partners than previously known.

The study on autism genes reveals that proteins involved in autism interact with many more partners than previously detected, because they involve alternatively spliced forms of autism genes found in the brain. The study published in the online issue of Nature Communications details research by a team from the University of California, San Diego School of Medicine and the Center for Cancer Systems Biology at the Dana-Farber Cancer Institute that uncovers a new aspect of autism.

Hundreds of new variants of autism genes were isolated from the human brain, and the scientists then screened their protein products against thousands of other proteins to identify interacting partners. Proteins produced by alternatively-spliced autism genes and their many partners formed a biological network that produced showed how autism genes are connected.

“When the newly discovered splice forms of autism genes were added to the network, the total number of interactions doubled,” said principal investigator Lilia Iakoucheva, PhD, assistant professor in the department of psychiatry at UC San Diego. The splice forms interacted with a different set of proteins in some cases. “What we see from this network is that different variants of the same protein could alter the wiring of the entire system,” Iakoucheva said.


How multiple autism genes connect to one another was also examined. The scientists discovered that one class of mutations involved in autism, known as copy number variants, involve genes that are closely connected to each other directly or indirectly through a common partner. “This suggests that shared biological pathways may be disrupted in patients with different autism mutations,” said Guan Ning Lin, PhD, a postdoctoral fellow in Iakoucheva’s laboratory.

Source: UCLA Institute for Society and Genetics