Junk DNA goodbye!: non-coding RNA can cause autism (Introduction)

by David Turell , Monday, May 27, 2019, 22:49 (2007 days ago) @ David Turell

Another finding shows function in 'junk DNA':

https://www.sciencedaily.com/releases/2019/05/190527111726.htm

"Leveraging artificial intelligence techniques, researchers have demonstrated that mutations in so-called 'junk' DNA can cause autism. The study, published May 27 in Nature Genetics, is the first to functionally link such mutations to the neurodevelopmental condition.

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"The analysis predicted the ramifications of genetic mutations in parts of the genome that do not encode proteins, regions often mischaracterized as 'junk' DNA. The number of autism cases linked to the noncoding mutations was comparable to the number of cases linked to protein-coding mutations that disable gene function.

"The implications of the work extend beyond autism, Troyanskaya says. "This is the first clear demonstration of non-inherited, noncoding mutations causing any complex human disease or disorder."

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"Noncoding mutations in many of the children with autism altered gene regulation, the analysis suggested. Moreover, the results suggested that the mutations affected gene expression in the brain and genes already linked to autism, such as those responsible for neuron migration and development. "This is consistent with how autism most likely manifests in the brain," says study co-author Christopher Park, a research scientist at CCB. "It's not just the number of mutations occurring, but what kind of mutations are occurring."

"The researchers tested the effects of some of the noncoding mutations in laboratory experiments. They inserted predicted high-impact mutations found in children with autism into cells and observed the resulting changes in gene expression. These changes affirmed the model's predictions."

Comment: The point is, if a mutation can cause function in a non-coding part of DNA, it is not junk, but genetically active. Not much 'junk' in DNA