Over the past 100 million years, mammals have adapted to nearly every environment on Earth. Scientists with the Zoonomia Project have been cataloging the diversity in mammalian genomes by comparing DNA sequences from 240 living species, from the two-gram bumblebee bat to giant whales, from the aardvark and the African savanna elephant to the yellow-spotted rock hyrax and the zebu. Their findings across 11 papers in the new issue of the journal Science pinpoint parts of the human genome that have remained unchanged after millions of years of evolution, providing information that may shed light on human health and disease.
The Zoonomia Project is an international effort in which the researchers sequenced a range of mammal genomes and then aligned them — a massive computational task.
Using the alignment, they 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 they hypothesized were biologically important.
These regions — while they don’t give rise to proteins — may contain instructions that direct where, when, and how much protein is produced.
Mutations in these regions could play an important role in the origin of diseases or in the distinctive features of mammal species.
Through their analyses, the authors tested this hypothesis and were also able to ascertain that at least 10% of the human genome is functional, 10 times as much as the approximately 1% that codes for proteins.
The findings further revealed genetic variants likely to play causal roles in rare and common human diseases, including cancer.
In one paper in the special issue, scientists studying patients with medulloblastoma identified mutations in evolutionarily conserved positions of the human genome they believe could be causing brain tumors to grow faster or to resist treatment.
Their results show how using these data and approach in disease studies…
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