Studies from the Zoonomia Project pinpoint key parts of the human genome that have remained unchanged after millions of years of evolution and may shed light on disease and unusual traits. Over the past 100 million years, mammals have adapted to nearly every environment on Earth. Scientists with
The Zoonomia Project has identified key parts of the human genome that have remained unchanged for millions of years, shedding light on disease susceptibility and unique mammalian traits. The findings, involving a comparison of 240 mammalian species, offer potential for improved disease understanding and biodiversity conservation.
In the new studies, the researchers identified regions of the genomes, sometimes just single letters of DNA, that are most conserved, or unchanged, across mammalian species and millions of years of evolution — regions that are likely biologically important. They also found part of the genetic basis for uncommon mammalian traits such as the ability to hibernate or sniff out faint scents from miles away.
From the Zoonomia Project — the largest comparative genomics resource in the world — comes a package of papers that compare the genomes of 240 mammals. DNA samples were collected by more than 50 different institutions worldwide including the San Diego Wildlife Alliance, which provided many genomes from species that are threatened or endangered.
With an eye toward preserving biodiversity, the researchers found that mammals with fewer genetic changes at conserved sites in the genome were at greater risk for extinction. Karlsson and Lindblad-Toh say that even having just one reference genome per species could help scientists identify at-risk species, as less than 5 percent of all mammalian species have reference genomes, though more work is needed to develop these methods.
, and Pardis Sabeti, an institute member at the Broad, examined more than 10,000 genetic deletions specific to humans using both Zoonomia data and experimental analysis, and linked some of them to the function of neurons.
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