Discovery of new genes in DNA that arose “spontaneously”

Humans and chimpanzees went their separate ways about 7 million years ago. We broke up, but we continue to evolve to this day.

New genes can arise through duplication, in which a portion of the genetic material on a chromosome duplicates and makes the chromosome longer. Gene duplication results in changes in the genome and is an important driver of evolution. However, new genes can also “automatically” arise from small pieces of our DNA.

Genetic duplication
Biomedical scientists from Greece and Ireland have 155 new genes selected In the human gene package, which has been added to our DNA seemingly out of nowhere. Some of these “new” genes have their origins in ancient times, when mammals had not yet roamed the Earth. Some of these other “microparticles” appear to be associated with diseases specific to humans.

“This project started in 2017 because I was interested in the evolution of new genes and I wanted to find out how these genes came to be,” says lead author Nikolaos Vakirelis. “We had to put the project on hold for a few years, but when another study was published, with some very interesting new data, we were able to continue our search.”

Created spontaneously
The research team used a previously published dataset of related new genes to create an ancestry map that compared human DNA to other vertebrate species. They synthesized the genome and discovered that 155 “new” genes arose spontaneously from small fragments of DNA. The researchers wanted to know more about this interesting discovery. What is this genetic information?

“It was fantastic to bring up and explore such a completely new topic,” says Irish researcher Aoife McClesagt of Trinity College Dublin. “If you delve deeper and deeper into these small pieces of DNA, you will notice that the work is moving more and more towards the edges of what can still be analyzed. It is difficult to estimate the biological significance of the genes and genome sequences studied. This is a huge challenge.”

Look for patterns
Of these 155 new genes, 44 are associated with a variety of cell development problems. These genes seem to be an important link in maintaining the life of healthy cells. Since these are human genes, direct testing is difficult. So scientists have to find another way to see what effects these new genes might have on the human body. Vakierlis and his team focused on DNA patterns that could indicate whether these types of genes play a role in specific diseases.

Three of these 155 newly discovered genes were found to contain DNA markers associated with genetic diseases such as muscular dystrophy, retinitis pigmentosa (a severe eye defect) and Alazemi syndrome (a developmental disorder). In addition to genes associated with the disorders, the researchers also found a new gene associated with the development of human heart tissue. This gene arose right after humans and chimpanzees separated from gorillas and shows how quickly the gene evolved to become essential to building an organism.

hidden treasures
“There is still a lot of work to be done. I think it will be interesting to look more deeply at these fine molecules in future studies and to better understand what they are capable of and whether they could be directly involved in any disease,” he said. Vackerlis says.

It is tempting to ignore these genes because they are so difficult to study. However, it is becoming increasingly clear that science cannot take its eyes off these fascinating pieces of genetic material,” McClesagt said. “If our assumptions are correct and we can build on the conclusions of this study, there are many more related objects of this kind that are hidden in the depths of the human genome waiting to be explored.