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Autism mutations, scattered across many genes, merge into common network of interactions
Date:4/4/2012

the project to include 677 individuals from 209 families with a single child with autism. They also sequenced the exomes of 50 unaffected brothers and sisters. In the newly reported results, 248 de novo mutations were validated, and 120 of these were classified as severe. These were predicted to produce, for example, proteins that were truncated or malfunctioning. The researchers then narrowed in on 60 top candidates most likely to contribute to autism risk, based on the nature of the mutation, functional evidence, or previous studies.

"It is important to point out that in each generation there is on average one new coding mutation per child and not all of these will cause developmental problems. However, in the case of children with autism, what we are finding are disruptions in many genes that are known to directly interact and also look similar to genes previous associated with autism," said Dr. Brian J. O'Roak, a senior fellow in the Department of Genome Sciences working with senior authors Drs. Jay Shendure and Evan Eichler. In fact, researchers found that 49 of the genes mutated had products known to directly interact by forming a highly interconnected network.

Interestingly, many of the proteins in this pathway are important in terms of remodeling chromatin changing the way DNA is packaged in the cell and controlling the expression and function of other genes and proteins. These protein pathways are thought to be critical in brain cell formation, brain cell connections, and nerve-cell signaling.

Having this large data set also allowed the researchers to evaluate the parental source of these new mutations, that is, whether they came from the sperm of the father or egg of the mother. Their analysis revealed that the new mutations were overwhelming paternal in origin (in a ratio of 4:1). Their results confirmed a prediction population geneticist J.B.S. Haldane made in in 1935. Moreover, the new mutations occurred at a rate that
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Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert  

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Autism mutations, scattered across many genes, merge into common network of interactions
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