A large international consortium led by scientists from Uppsala University and the Broad Institute of MIT and Harvard has sequenced the genome of 130 mammals and analyzed the data along with 110 existing genomes so that scientists can identify which positions in DNA are important. This new information can be useful in researching disease mutations in humans as well as in the best possible conservation of endangered species. The study is published in Nature. Photo credit: Susanna Hamilton
A large international consortium led by scientists from Uppsala University and the Broad Institute of WITH and Harvard has sequenced the genome of 130 mammals and analyzed the data along with 110 existing genomes so scientists can identify which key positions in the world DNA. This new information can be useful in researching disease mutations in humans as well as in the best possible conservation of endangered species. The study is published in Nature.
When scientists and doctors want to understand which mutations lead to diseases such as cancer, heart disease or schizophrenia, they compare the genomes of many patients and matching control persons. You can often find tens to hundreds of regions that are predisposing to disease. These regions typically do not overlap genes, but lie outside the genes, and each region can contain hundreds of mutations among which it is difficult to determine which one is predisposed to disease.
Professor Kerstin Lindblad-Toh from Uppsala University, SciLifeLab and the Broad Institute of MIT and Harvard. A large international consortium led by scientists from Uppsala University and the Broad Institute of MIT and Harvard has sequenced the genome of 130 mammals and analyzed the data along with 110 existing genomes so that scientists can identify which positions in DNA are important. This new information can be useful in researching disease mutations in humans as well as in the best possible conservation of endangered species. The study is published in Nature. Photo credit: Mikael Wallerstedt
During evolution, most positions in DNA mutate randomly many times. If a position has not changed in 100 million years (since the first mammal), that specific position very likely has an important function in the genome. With the help of this concept, evolutionary constraint, it is much easier to find the regulatory elements that determine when, where, and how much of a protein is made from a gene.
“Comparing the genomes of 240 mammals will help geneticists identify the mutations that lead to human disease,” says Professor Kerstin Lindblad-Toh of Uppsala University, SciLifeLab and the Broad Institute of MIT and Harvard.
In addition to understanding the human genome, all of these genomes studied in different mammals can be used to study how certain species adapt to different environments. For example, some otters have thick, water-resistant fur, and some, but not all, mice have adapted to hibernation. These animal traits can help us understand human traits such as metabolic diseases.
As climate change and more animal habitats are affected by human activities, it becomes increasingly important to defend endangered species. Traditionally, scientists study many individuals in different populations of a species to understand the genetic diversity within them. This is important in understanding how certain species can be protected. In this study, animals on the IUCN (International Union for Conservation of Nature) Red List of Endangered Species had fewer variations in their genome, which is consistent with their threatened status.
“We hope that our extensive data set, which is available to all scientists in the world, will be used to understand disease genetics and protect biodiversity,” says Lindblad-Toh.
Read the largest set of mammalian genomes where species are critically endangered to learn more about this research.
Reference: “A comparative genomics multitool for scientific discovery and conservation” by the Zoonomia Consortium, November 11, 2020, nature.
DOI: 10.1038 / s41586-020-2876-6
