Scientists at the University of Colorado Anschutz Medical Campus have implicated a largely hidden part of the human genome in the severity of autism symptoms, a discovery that could lead to new insights into the disorder and eventually to clinical therapies for the condition. The researchers found that these critical genes are in a part of the human genome that is so complex and difficult to study that it has been unexamined by conventional genome analysis methods. The study was published today in the American Journal of Psychiatry.
In this case, the region encodes most copies of the Olduvai (formerly DUF1220) protein domain, a highly duplicated (~300 copies in the human genome) and highly variable gene-coding family that has been implicated in both human brain evolution and cognitive disease. The researchers analyzed the genomes of individuals with autism and showed that, as the number of copies of Olduvai increased, the severity of autism symptoms became worse.
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“It took us several years to develop accurate methods for studying these sequences, so we fully understand why other groups have not joined in,” says senior author James Sikela of CU. “We hope that by showing that the link with autism severity holds up in three independent studies, we will prompt other autism researchers to examine this complex family.”
In order to provide more evidence that the association with autism severity is real, the Sikela lab used an independent population and developed a different, higher resolution measurement technique. This new method also allowed them to zero in on which members of the large Olduvai family may be driving the link with autism.
“The current study adds further support to the possibility that this lack of success may be because the key contributors to autism involve difficult-to-measure, highly duplicated, and highly variable sequences, such as those encoding the Olduvai family, and, as a result, have never been directly measured in other studies of autism," Sikela claims.