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Research | Viral DNA sequences in the human genome may help control gene activity, new study shows

Published: 29 July 2025

Long dismissed as “junk,” viral fragments buried in human DNA may help regulate our genes, according to a new international study co-led by Guillaume Bourque, professor in ɬ﷬’s Department of Human Genetics, D2R-funded researcher and member of the D2R Research Steering Committee and Executive (RSC). The findings offer new insights into what makes us human, 25 years after the human genome was first mapped.

Published inScience Advanceson July 18, the study -"A phylogenetic approach uncovers cryptic endogenous retrovirus subfamilies in the primate lineage" - introduces a new method for tracing the evolutionary history of viral DNA. Researchers from ɬ﷬ and Kyoto University uncovered hidden viral sequences with gene-regulating potential that had been missed in earlier genome annotations.

Around eight percent of the human genome comes from viruses that infected our ancestors millions of years ago. Some of these ancient viral sequences have been shown to help turn genes on and off, but many remain poorly understood. By grouping sequences based on their evolutionary history, the team identified a previously unrecognized subtype (MER11_G4) that appears especially active in human stem cells and may play a key role in regulating genes in humans and chimpanzees.

“The current annotation of viral DNA in the genome shouldn’t be treated as definitive. It’s time to revisit and refine it,” said Bourque. “We are one step closer to understanding what makes us human and how our DNA influences health and disease.”

About the study

“A phylogenetic approach uncovers cryptic endogenous retrovirus subfamilies in the primate lineage” by Xun Chen, Zicong Zhang, Yizhi Yan, Clément Goubert, Guillaume Bourque and Fumitaka Inoue was published July 18 inScience Advances.

The research was supported by the Canadian Institutes of Health Research, the Canada Research Chairs program, the Fonds de recherche du Québec – Santé, and Japan’s World Premier International Research Center Initiative.


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