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


Important points:

  • Researchers have developed a computer program that can identify parts of the human genome that are sensitive to harmful mutations.
  • Five specific areas have been identified that are linked to genetic disorders, spinal muscular atrophy and more.
  • The team hopes their findings will help clinicians in their quest for the origins of serious genetic diseases.

Genetic mutations can be good or bad, but they have no legend explaining what is what. So researchers at Cold Spring Harbor Laboratory created one.

Adam Siepel and his team have developed a computer program that traces the history of harmful mutations in the human genome over the course of evolution. The program, called ExtRaINSIGHT, discovered parts of the genome that are particularly prone to bad mutations, meaning that mutations in those regions can have serious or fatal consequences.

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For their study, published in nature communicationthe team analyzed over 70,000 human genomes with ExtRaINSIGHT. They discovered that three parts of the genome were extremely sensitive to mutations over generations. Of these, splices are the most sensitive. Splice sites help create correct instructions for making proteins. They are linked to several diseases, including spinal muscular atrophy, the leading genetic cause of death in infants and young children.

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“If you see a mutation at a splice site, you better take it seriously,” says Siepel. “That mutation alone would reduce your fitness by 1 or 2%. That doesn’t sound like a lot, but it is an enormous fitness effect. And if you had several of them, your chance of passing on your genes could be close to zero pretty soon.”

Research results also showed that miRNA molecules and central nervous system genes are sensitive to bad mutations.

“If you find a mutation in the miRNA, there is a high probability that it is responsible for a genetic disease,” Siepel said. “And because the nervous system is so complex and interconnected, it appears to be particularly susceptible to mutation.”

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

Information from Cold Spring Harbor Laboratory.

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