Software Finds Parts of the Genome that are Sensitive to Bad Mutations

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Key Points:

  • Researchers have created a computer program that can identify parts of the human genome that is sensitive to harmful mutations.
  • Five specific areas have been identified, with ties to genetic disease, spinal muscular atrophy, and more.
  • The team hopes their findings will help guide clinicians seeking the origins of serious genetic diseases.

Genetic mutations can be good or bad, but they don’t come with a legend to explain which is which. So, researchers at Cold Spring Harbor Laboratory created one.

Adam Siepel and his team developed a computer program that tracks the history of harmful mutations in the human genome throughout evolution. The program, called ExtRaINSIGHT, discovered parts of the genome that are especially vulnerable to bad mutations, meaning any mutations in those regions can result in severe or lethal consequences.

For their study, published in Nature Communications, the team analyzed over 70,000 human genomes with ExtRaINSIGHT. They discovered three parts of the genome have been extremely sensitive to mutations over generations. Of these, splice sites are the most sensitive. Splice sites help produce correct instructions for making proteins. They’re linked to several diseases including spinal muscular atrophy, the leading genetic cause of death in infants and toddlers.

“If you see a mutation in a splice site, you better take it seriously,” said Siepel. “That mutation alone would reduce your fitness by 1 or 2%. That doesn’t sound like very much, but that’s a huge fitness effect. And if you had multiple of these, pretty soon your chance of passing on your genes might be close to zero.”

The research findings also revealed that miRNA molecules and central nervous system genes are sensitive to bad mutations.

“If you find a mutation in miRNA there’s a good chance it’s responsible for a genetic disease,” said Siepel. “And because the nervous system is so complex and interconnected, it seems particularly sensitive to mutation.”

The researchers hope data produced by ExtRaINSIGHT will help guide diagnosis and treatment of serious genetic diseases in the future. Siepel says he also hopes the work will finally reveal the original of genetic diseases and conditions, and further illustrate how mutations continue to shape the evolution of the human genome.

Information provided by Cold Spring Harbor Laboratory.

 

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