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The gene family linked to brain evolution is implicated in severity of autism symptoms
Date:3/21/2014

ively worse.

In 2012, Sikela was the lead scientist of a multi-university team whose research established the link between DUF1220 and the rapid evolutionary expansion of the human brain. The work also implicated DUF1220 copy number in brain size both in normal populations as well as in microcephaly and macrocephaly (diseases involving brain size abnormalities).

The first author of the autism study, Jack Davis, PhD, who contributed to the project while a postdoctoral fellow in the Sikela lab, has a son with autism and thus had a very personal motivation to seek out the genetic factors that cause autism.

The research by Davis, Sikela and colleagues at the Anschutz campus in Aurora, Colo., focused on the presence of DUF1220 in 170 people with autism.

Strikingly, Davis says, DUF1220 is as common in people who do not have ASD as in people who do. So the link with severity is only in people who have the disorder.

"Something else is at work here, a contributing factor that is needed for ASD to manifest itself," Davis says. "We were only able to look at one of the six different subtypes of DUF1220 in this study, so we are eager to look at whether the other subtypes are playing a role in ASD."

Because of the high number of copies of DUF1220 in the human genome, the domain has been difficult to measure. As Sikela says, "To our knowledge DUF1220 copy number has not been directly examined in previous studies of the genetics of autism and other complex human diseases .So the linking of DUF1220 with ASD is also confirmation that there are key parts of the human genome that are still unexamined but are important to human disease."


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Contact: Dan Meyers
dan.meyers@ucdenver.edu
University of Colorado Denver
Source:Eurekalert

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