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Genetics: The roots of autism (AOP)
DOI: 10.1038/nature09146
This week in Nature, Stephen Scherer and the Autism Genome Project Consortium describe the results of a genetic analysis of the largest assemblage of families with autism spectrum disorder.
The autism spectrum disorders (ASDs) are a group of conditions characterized by highly repetitive behaviour, severely restricted interests, and problems with social interactions and communication. Although ASDs are known to be highly heritable, geneticists have struggled to home in on the precise genetic elements responsible.
The authors looked for copy number variants (CNVs) — segments of DNA for which the copy number differs between individual genomes — across the genomes of nearly 1,000 ASD individuals and around 1,200 healthy people. Their comparison shows that ASD sufferers carry a greater number of rare CNVs, both inherited and those that have arisen for the first time in the ASD sufferers. These variants frequently involve coding portions of the genome.
The study implicates many novel genes as ASD candidates. For example, in people with an ASD, CNVs disrupt sets of genes involved in cellular proliferation, projection and motility, and GTPase/Ras signalling pathways.
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Geri Dawson (Autism Speaks, New York, NY, USA)
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