The functions of the protein coding gene Rbfox1 have been localized and found to contain a plethora of mutated genes tied to autism. These findings, which were published in Neuron, could lead to the development of new therapies for the disorder.
The study, conducted by a team of researchers from UCLA, blended a cell biology approach with powerful DNA-sequencing technology to find the identities of genes controlled by Rbfox1. “[…] Rbfox1 has an entirely new function that other scientists had overlooked,” said coauthor Daniel Geschwind, a professor of neurology and psychiatry at UCLA.
Rbfox1 controls how the cell makes proteins. The results demonstrated that where Rbfox1 was located in the cell, determined what genes it influenced. Previously, scientists had thought that Rbfox1 primarily influenced functions in the cell’s nucleus. However, these new findings showed that Rbfox1 also influenced over 100 genes in the cytoplasm. Many of these genes are known to encode proteins associated with the risk of autism, they explained.
“Our study is the first to discover that dozens of autism risk genes reside in the cytoplasm and share common pathways in regulating the brain cells,” said principle investigator Dr. Kelsey Martin, dean and professor of biological chemistry at the David Geffen School of Medicine at UCLA.
The researchers said their next step is to learn more about how Rbfox1 controls genes in the cytoplasm. However, any new treatment outcomes could still be a way off, due to the high number of genes linked to autism risk. Geschwind said, “Identifying common pathways where these genes overlap will greatly simplify our ability to develop new treatments.”
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