Researcher uses mammalian DNA to zoom in on the human genome with unprecedented resolution

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Gazal is part of an international team of researchers who have become the first to accurately identify the base pairs of the human genome that remained constant over millions of years of mammalian evolution and play crucial roles in human disease. . The findings were published in a special zoonomy edition of Science.

Gazal and his team analyzed the genomes of 240 mammals, including humans, zooming in with unprecedented resolution to compare DNA. They were able to identify base pairs that were “restricted,” meaning they remained generally consistent, across mammalian species throughout evolution. Individuals born with mutations in these genes may not have been as successful within their species, or were otherwise not likely to pass on the genetic variation. “We were able to identify where gene mutations are not tolerated in evolution, and we showed that these mutations are significant when it comes to disease,” explains Gazal.

The team found that 3.3% of the bases in the human genome are “significantly constrained,” including 57.6% of the coding bases that determine amino acid position, meaning these bases had few unusual variants. between species in the data set. The more restricted base pairs in mammals were more than seven times more likely to be causative of human diseases and complex traits, and more than 11 times more likely when the researchers looked at the more restricted base pairs only in primates.

The data set was provided by the Zoonomia consortium, which according to the project’s website, “is applying advances in DNA sequencing technologies to understand how genomes generate the enormous wealth of animal diversity.” Gazal credits Zoonomia for making this kind of data available to researchers and anticipates it will be widely used by human geneticists. “It’s a cheap resource to generate, unlike the data sets generated in human genetic studies,” says Gazal.

His team’s findings are an important step forward, as Gazal points out, “We do not understand 99% of the human genome, so it is critical to understand which part has been constrained by evolution and is likely to have an impact on human phenotypes.” “. Her discoveries and methods could become crucial tools for future research.

The next step for Gazal and his team is to repeat the process with a primate-only dataset. By narrowing down the topics, they hope to focus on the functions of DNA that appeared more recently in human evolution. “We hope this will be even more useful for determining information about human diseases,” says Gazal.