Washington, Nov 30: Researchers at Duke University have created the first map of imprinted genes throughout the human genome.

The study, led by Dr. Randy Jirtle, a genetics researcher in the departments of radiation oncology and pathology at Duke, revealed four times as many imprinted genes as had been previously identified.

The researchers said that a modern-day Rosetta stone, a form of artificial intelligence called machine learning, was the key to the success in the finding.

In classic genetics, children inherit two copies of a gene, one from each parent, and both actively shape how the child develops. But in imprinting, one of those copies is turned off by molecular instructions coming from either the mother or the father. This process of “imprinting” information on a gene is believed to happen during the formation of an egg or sperm, and it means that a child will inherit only one working copy of that gene.

This is the reason as to why imprinted genes are so vulnerable to environmental pressures - if the only functioning copy is damaged or lost, there’s no backup to jump in and help out.

Many of the newly identified imprinted genes lie within genomic regions linked to the development of major diseases like cancer, diabetes, autism, and obesity.

The researchers of the study say that if some of these genes are later shown to be active in these disorders, they might offer clues to better disease prevention or management.

“Imprinted genes have always been something of a mystery, partly because they don’t follow the conventional rules of inheritance, ” said Jirtle.

“We’re hoping this new roadmap will help us and others find more information about how these genes affect our health and well-being, ” Jirtle added.

The technical wizardry needed to find the genes fell to Dr. Alexander Hartemink, the other senior author of the study and an assistant professor in Duke’s department of computer science, and Philippe Luedi, the first author of the study

In the study, the scientists fed sequence data from two types of genes – ones known to be imprinted and ones believed not to be imprinted – into a computer and asked it to discover the differences.

This machine learning approach led to an algorithm, which was able – like the original Rosetta stone – to decode seemingly impenetrable data, in this case, specific DNA sequences that pointed to the presence of imprinted genes.

“We can’t say for certain that we identified all of them, but we think we found a large number, ” said Hartemink, an assistant professor in Duke’s department of computer science and the study’s co-author.

Jirtle contemplated that imprinting is an epigenetic event, meaning it’s something that can change a gene’s function without altering the sequence of its DNA.

“Imprinted genes are unusually vulnerable to pressures in our environment – even what we eat, drink, and breathe. On top of that, epigenetic changes can be inherited. I don’t think people realize that, ” Jirtle said.

The study will appear in Genome Research. (ANI)