Breakthrough DNA Study Uncovers Rapidly Evolving Human Genome Regions.

A pioneering study conducted by a collaborative team from University of Utah Health, the University of Washington, PacBio, and several other institutions has mapped the most detailed genetic atlas to date, uncovering new insights into the pace and patterns of human genetic change. The research, which utilized state-of-the-art sequencing technologies, shows that parts of the human genome mutate far more quickly than previously understood. These findings hold significant implications for the study of human evolution and the origins of genetic diseases.

Understanding how DNA changes over time is crucial for assessing disease risks and tracing evolutionary paths. However, many of the genome’s most dynamic regions have been inaccessible to scientists—until now. By employing a range of complementary sequencing techniques, the researchers have opened a window into these highly mutable genomic areas, some of which change nearly every generation.

"Mutations are the fundamental forces that set us apart from other species," explained Dr. Lynn Jorde, a professor of human genetics at the Spencer Fox Eccles School of Medicine (SFESOM) at the University of Utah. "We’re now gaining insights into a core property of what it means to be human."

The team achieved this milestone by comparing the genomes of parents and their children to determine how frequently new genetic mutations arise and are passed down. Dr. Jorde likened this mutation rate to the biological equivalent of the speed of light in physics—an essential constant that underpins our understanding of human biology. He noted that the variation between individuals, from traits like eye color to the presence of rare genetic disorders, stems from these subtle but constant changes in DNA.

According to the researchers, each person carries approximately 200 new mutations that are not present in either parent. Many of these occur in parts of the genome that have historically been difficult to analyze. Dr. Aaron Quinlan, chair of human genetics at SFESOM and co-author of the study, highlighted that past research focused on the most stable genomic regions. In contrast, the new study uncovered regions Quinlan described as "crazy mutable," with near-constant mutation rates across generations.

The discovery provides critical insights for genetic counseling. If a child has a genetic disorder linked to a mutation hotspot, it’s more likely to be a spontaneous mutation rather than inherited, lowering the risk for future siblings. Conversely, if a mutation is passed down from a parent, subsequent children could face a higher likelihood of being affected.

The foundation of this discovery lies in a unique multigenerational family from Utah that has contributed DNA samples since the 1980s as part of the Centre d'Etude du Polymorphisme Humain consortium. This "platinum pedigree" spans four generations and was pivotal in enabling the researchers to observe the transmission of genetic changes over time.

Dr. Deborah Neklason, a research associate professor at SFESOM, emphasized the rarity and value of such a resource. "A family with this level of participation gives us an unprecedented view into how genomes shift from one generation to the next," she said.

To capture both small-scale and large-scale changes in DNA, the team used multiple sequencing technologies, each optimized for different types of genetic variation. This multi-angled approach allowed them to generate a more complete and accurate picture of genomic change than any single method could offer.

Looking ahead, the researchers plan to apply these methods to other families to determine whether similar mutation rates and patterns occur more broadly. “We found fascinating results in this one family,” said Quinlan. “The next step is to understand how these findings hold up across different genetic lineages.”

Importantly, the team has committed to making their sequencing data publicly available, encouraging further exploration into genetic disease risks and the story of human evolution.

Source:https://www.sciencedaily.com/releases/2025/04/250423111908.html

This is non-financial/medical advice and made using AI so could be wrong.