Study Uncovers Molecular Targets of Autism-Linked RORA Gene
RORA, an autism candidate gene, encodes a protein that binds to more than 2,500 other genes and alters the expression of some of those genes, according to a study published 22 May in Molecular Autism.
That long list is chock-full of genes that are involved in autism-related biology. For example, dozens of the genes are related to the development of the cerebellum, a brain region important for motor coordination that has been linked to autism. Others are involved in the birth of new synapses, the junctions between neurons, and in the transmission of messages between synapses.
Most exciting, the researchers say, is that 426 of RORA’s gene targets are listed in AutismKB, a database of autism candidates maintained by scientists at Peking University in Beijing, and 49 in SFARI Gene. (The latter is funded by the Simons Foundation, SFARI.org’s parent organization.)
“The list was so highly enriched, it was just amazing to us,” says lead investigator Valerie Hu, professor of biochemistry and molecular biology at George Washington University in Washington, D.C. “What it tells me is that any mechanism that will lead to dysfunctional RORA expression will impact a whole bunch of pathways relevant to autism.”
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