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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 鈥渏unk,鈥 viral fragments buried in human DNA may help regulate our genes, according to a new international study co-led by Guillaume Bourque, professor in 每日探花鈥檚 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 Advances听on July 18, the study -听"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 每日探花 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.

鈥淭he current annotation of viral DNA in the genome shouldn鈥檛 be treated as definitive. It鈥檚 time to revisit and refine it,鈥 said Bourque. 鈥淲e are one step closer to understanding what makes us human and how our DNA influences health and disease.鈥

About the study

鈥淎 phylogenetic approach uncovers cryptic endogenous retrovirus subfamilies in the primate lineage鈥 by Xun Chen, Zicong Zhang, Yizhi Yan, Cl茅ment Goubert, Guillaume Bourque and Fumitaka Inoue was published July 18 in听Science Advances.

The research was supported by the Canadian Institutes of Health Research, the Canada Research Chairs program, the Fonds de recherche du Qu茅bec 鈥 Sant茅, and Japan鈥檚 World Premier International Research Center Initiative.


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