Scientists Uncover How Quickly Our DNA Can Change Across Generations

TAIPEI, TAIWAN, May. 1st, 2025- A new study has revealed that changes in human DNA, called "de novo mutations," happen more often than scientists previously thought — and some parts of our genome are much more prone to change than others.

Researchers from the University of Washington, the University of Utah, and other institutions worked together to study four generations of one large Utah family. Using a combination of cutting-edge DNA sequencing technologies, they were able to map each person's entire genome, including tricky regions that are usually hard to study, like the centromeres (the middle part of chromosomes) and parts of the Y chromosome.

In the past, scientists mainly used short-read DNA sequencing, which missed many parts of the genome. By adding long-read and ultra-long-read sequencing and a technique called Strand-seq, this team was able to piece together much more complete and detailed versions of the family’s genomes. This allowed them to track how mutations appeared and were passed down through the generations.

On average, they found about 150 new mutations per generation — much higher than the 90 to 100 mutations per generation previously estimated. Interestingly, mutations didn’t occur evenly across the genome. Some areas, like short tandem repeats and regions on the Y chromosome, were hotspots for change. In fact, the Y chromosome had an average of 12.4 new mutations per generation.

While most new mutations tended to come from the father’s side, about 16% arose from post-zygotic changes — mutations that happen after the sperm and egg come together — and weren’t strongly linked to either parent.

The study also showed that new structural mutations didn’t necessarily happen where chromosomes swap parts during reproduction (a process called recombination), which surprised the researchers.

This detailed look at how DNA changes over time can help scientists better understand human evolution, genetic diseases, and even rare errors in chromosome separation. The large amount of genetic data collected from this family is also being shared publicly, giving other scientists a valuable resource for future research.

The team now hopes to study more families to see how mutation patterns might differ, and to explore even more complex areas of the human genome.

Reference:

[1] De Novo Mutation Rate in Humans Higher Than Assumed, Multigenerational Genomics Study Suggests

[2] Four generations help science explore genome mutation rate

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