THIS ARTICLE IS MORE THAN FIVE YEARS OLD
This article is more than five years old. Autism research — and science in general — is constantly evolving, so older articles may contain information or theories that have been reevaluated since their original publication date.
In last week’s guest blog, Daniel Geschwind and Jason Stein broke down how different types of genetic variation contribute to autism risk.
Most of what we know about how genetics contributes to autism relies on studies of the exome, the protein-coding region of the genome. Focusing on this subset of the genome makes sense, because alterations in protein sequences are the easiest to interpret, and the exome is likely to harbor a disproportionate amount of autism-related variation.
However, the exome accounts for only one to three percent of the entire genome. As Geschwind and Stein ask in their piece, what about genetic variation in the remaining 97 percent?
Genetic risk outside the exome is mostly uncharted territory. But researchers say that although this region is vast and difficult to study, genetic variation there influences gene expression and may make important contributions to neurodevelopmental disorders.
What do you think?
- How much of the genetic risk for autism is likely to be located outside of the exome?
- How might noncoding DNA and RNA affect or interact with known mutations in the exome?
- Given the widespread variation in the noncoding regions of the genome, how can we design studies to pinpoint the variance that’s relevant to function?
Share your thoughts in the comments section below. Or, to dig deeper, continue the conversation in the moderated SFARI Forum for researchers. Not yet a member? Learn how to register here.
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