Evolution In Action: 155 New Genes Discovered In Human DNA

Modern humans look quite different from our hominid ancestors and completely unrecognizable from chimps, our closest relative. A new study has found we are still evolving, considering researchers have found 155 new genes within our DNA.

The study, published in the journal Cell Reports, found while novel genes can stem from duplication events pre-existing in the genome, these microgenes were completely created from scratch.

"This project started back in 2017 because I was interested in novel gene evolution and figuring out how these genes originate," first author Nikolaos Vakirlis, a scientist at the Biomedical Sciences Research Center "Alexander Fleming" in Vari, Greece, said, as per PhysOrg. "It was put on ice for a few years, until another study got published that had some very interesting data, allowing us to get started on this work."

Since these genes are found in humans only, experimenting and testing on them is obviously difficult.

"It was quite exciting to be working in something so new," said senior author Aoife McLysaght, a scientist at Trinity College Dublin, according to the outlet. "When you start getting into these small sizes of DNA, they're really on the edge of what is interpretable from a genome sequence, and they're in that zone where it's hard to know if it is biologically meaningful."

However, scientists are not completely in the dark regarding the functions of these genes.

Forty four of these novel genes are associated with growth defects in cell cultures, according to the researchers. Another three of these 155 genes have disease-associated DNA markers that have links to ailments such as muscular dystrophy, retinitis pigmentosa, and Alazami syndrome, according to the outlet.

Additionally, a new gene associated with human heart tissue was also found by the researchers. This particular gene reportedly emerged in humans and chimps quickly after they diverged from the gorillas. This is an example of how a gene can evolve rapidly to become important for the body.

"It will be very interesting in future studies to understand what these microgenes might do and whether they might be directly involved in any kind of disease," Vakirlis said.

McLysaght holds similar views, and believes that these genes will one day gain center stage in genetic studies.

"These genes are convenient to ignore because they're so difficult to study, but I think it'll be increasingly recognized that they need to be looked at and considered," McLysaght said. "If we're right in what we think we have here, there's a lot more functionally relevant stuff hidden in the human genome."

Speaking of the human genome, a new study has recently announced its plans to conduct genome sequencing of 100,000 babies at birth to identify and expedite the process of diagnosis of over 200 rare genetic diseases.

"We want to be able to say to parents that we've done the best we can to identify and do something about these life-changing illnesses, in a timely way before the damage these conditions can cause has been done," Dr. Richard Scott, chief medical officer at Genomics England said, as per SkyNews.