Study finds neglected mutations may play important role in a

Study finds neglected mutations may play important role in autism spectrum disorder


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Mutations that occur in certain DNA regions, called tandem repeats, may play a significant role in autism spectrum disorders, according to research led by Melissa Gymrek, assistant professor in the UC San Diego Department of Computer Science and Engineering and School of Medicine. The study, which was published in
Nature on Jan. 14, was co-authored by UCLA professor of human genetics Kirk Lohmueller and highlights the contributions these understudied mutations can make to disease.
"Few researchers really study these repetitive regions because they're generally non-coding--they do not make proteins; their function is unclear; and they can be difficult to analyze," said Gymrek. "However, my lab has found these tandem repeats can influence gene expression, as well as the likelihood of developing certain conditions such as ASD."

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