By comparing the genetic blueprints of a group of animals, scientists are gaining new insights about our species and everything we share with other creatures.
One of the most striking discoveries is that certain passages in the Life Instructions continued through evolutionary time, representing a cross-line connecting all mammals—us included.
Results come from Zoonomia Projectan international effort providing clues about human traits and diseases, animal abilities such as hibernation and even the genes behind a sled dog named Balto that helped save lives a century ago.
The researchers shared some of their findings in 11 research papers published Thursday in the journal Science Journal.
David O’Connor, who studies primate genetics at the University of Wisconsin-Madison, said the studies address deep questions.
“It’s just the wonders of biology, how alike and so different we are with all the things around us,” said O’Connor, who was not involved in the research. “It kind of reminds me why it’s so cool to be a biologist.”
The Zoonomia team, led by Elinor Carlson and Kirsten Lindblad-Toh at the Broad Institute of MIT and Harvard, looked at 240 species of mammals, from bats to bison. They sequenced and compared their genomes – the instructions that organisms need to develop and grow.
They found that certain regions of these genomes remained the same across all mammalian species over millions of years of evolution.
One study found that at least 10% of the human genome is largely unchanged across species. Many of these regions occur outside the 1% of genes that give rise to proteins that control cell activity and are a major target of DNA.
The researchers hypothesized that the long-conserved regions might serve a purpose and are likely what they call “regulatory elements,” containing instructions about where, when, and how much of a protein is produced. Scientists have identified more than 3 million of these in the human genome, about half of them previously unknown.
Scientists have also focused on change within the animal kingdom. When they aligned species’ genetic sequences and compared them to their ancestors, Carlson said, they discovered that some species experienced a lot of changes in relatively short periods of time. This showed how they were adapting to their environments.
“One of the really cool things about mammals is that at this point in time they have basically adapted to survive in almost every ecosystem on Earth,” Carlson said.
A group of scientists searched for genes that humans do not have, but that other mammals have.
Instead of focusing on novel genes that might create unique human traits, “we’ve turned that on its head,” said Stephen Reilly, a genetics researcher at Yale University.
“Losing pieces of DNA can actually generate new features,” Riley said.
For example, he said, a careful deletion of DNA between chimpanzees and humans caused a series of changes in gene expression that may be one of the reasons for prolonged brain development in humans.
Another study focused on the fitness of a well-known animal: the balto.
Scientists sequenced the genome of a sled dog, which led a team of dogs carrying the life-saving diphtheria vaccine to Nome, Alaska, in 1925. His story was made into a 1995 animated movie and a statue of puppy wings in New York’s Central Park.
By comparing the Balto’s genes to those of other dogs, the researchers found that he was more genetically diverse than modern breeds and may have carried genetic variants that helped him survive in extreme conditions. Palto “gives us this evidence through comparative genomics,” said one of the authors, researcher Katherine Moon of the University of California, Santa Cruz, and shows how genetics can shape individuals.
O’Connor said he expects Zoonomia to yield more ideas in the future.
“Having these tools and having the kind of guts to ask these big questions” helps scientists and others “know more about the life around us,” he said.
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