Cambridge, Mass. — Scientists have revealed a detailed map comparing the DNA of 240 mammal species, a breakthrough that could revolutionize medicine. Genes, which represent complete sets of genetic information, represent critical components of human DNA that have persisted over millions of years of evolution.
The Zoonomia project, one of the most ambitious efforts in biology to date, includes a wide array of animals, from aardvarks and African elephants to yellow-spotted rock hyrax and zebu. More than 150 people from seven different time zones have contributed to this unprecedented resource.
„One of the biggest problems in genomics is that humans have a very large genome and we don’t know what it does. This set of papers really shows what you can do with this kind of data and how much we can learn from studying the genomes of other mammals,” says the Massachusetts Institute of Technology. The lead author is Professor Eleanor Carlson from Technology. Media release.
Over the past 100 million years, countless mammals have adapted to every environment on Earth. The findings provide insights into how certain species accomplish extraordinary feats. They help researchers better understand which parts of our genome are active and how they may influence health and disease.
Researchers have identified regions of genes, sometimes consisting of single DNA letters, that are highly conserved and biologically significant. Some are associated with unique traits, such as the ability to sleep or keen senses of smell. Others are at increased risk of extinction due to climate change and habitat loss. Certain mutations predispose humans to rare and common diseases.
An international team analyzed DNA samples collected from 50 institutions worldwide. Many of these samples were obtained from the San Diego Wildlife Federation and contained genomes of threatened or endangered species.
Most of the conserved regions, which have evolved more slowly than random fluctuations, are involved in embryonic development and gene expression regulation. Areas that undergo frequent changes usually affect an animal’s interactions with its environment, for example through immune responses or skin development. The researchers found that mammals with fewer mutations at conserved genetic sites were at greater risk of extinction.
The study’s authors used mammalian genomes to study human traits and diseases. They found variants associated with diseases including cancer. Using both the Zoonomia data and experimental analysis, it examined 10,000 gene deletions specific to humans and linked some of the deletions to the function of neurons.
„We are very interested in sequencing mammalian species. We are excited to see how we and other researchers can work with this data in new ways to understand both genetic evolution and human disease,” says co-author Prof. Kerstin Lindblad-Do from Uppsala University in Sweden.
The findings of the Junomia project are a series of 11 studies published in the journal Science.
Southwest News Service writer Mark Waghorn contributed to this report.
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