Scientists create biggest animal genome data to understand the evolution of mammals

The project also decoded common genetic traits found in animals as well as those found only in humans. One study also identified species that may be on the verge of extinction. 

“Some of the key findings revealed regions of the genomes that are most conserved, or unchanged, across mammalian species over the evolutionary years. Understanding these regions could be biologically important, and pave the way to understanding mammalian traits,” explained the official press release from the Broad Institute of MIT and Harvard. 

The findings were published in a series of research papers in the journal Science. Each depicted a different observation and finding derived from this massive genome data set. 

Understanding the human genome

This vast pool of data could help us better understand the complex human genome. Mammalian genomes can be used by scientists to investigate human traits and diseases. 

"One of the biggest problems in genomics is that humans have a really big genome and we don't know what all of it does. This package of papers really shows the range of what you can do with this kind of data, and how much we can learn from studying the genomes of other mammals," said Elinor Karlsson, director of the vertebrate genomics group at the Broad Institute of MIT and Harvard, who led this effort, in a statement.

Scientists found that nearly 10 percent of the human genome is conserved across species. About 4,500 gene elements were found to be conserved across more than 98 percent of the mammalian species studied. 

According to the statement, conserved genome regions are primarily those that have changed slowly over time — primarily those involved in embryonic development or even RNA expression regulation. Regions that changed more frequently, on the other hand, aided animals in evolving and interacting better with their surroundings, such as immune function or skin development. 

In one of the papers, scientists discovered mutations that are likely linked to both rare and common diseases, such as cancer. This could make it easier to identify genetic changes that are likely to increase disease risk.

Preserving biodiversity through genome

One study also shed light on how understanding genome evolution can aid in biodiversity conservation. Scientists assert that “having just one reference genome per species could help scientists identify at-risk species, as less than 5% of all mammalian species have reference genomes, though more work is needed to develop these methods.”

It found that the fewer genetic changes at conserved sites in the genome, the greater the risk of extinction for the mammal. 

Furthermore, mammalian species that had small populations in the past are more likely to carry harmful mutations, implying an increased risk of extinction. This discovery could be incorporated into conservation status in order to better protect the species today.

This largest comparative mammalian genomics data set was created collaboratively by over 150 people from around the world. Yale University, the Broad Institute of MIT and Harvard, Uppsala University, and the University of Southern California were among some of the institutions involved.