Genetic sequence of 240 mammals to help identify mutations that cause human disease

A large international consortium led by scientists at the University of Uppsala և MIT Լ Harvard Line Institute has sequenced the genomes of 130 mammals and analyzed the data along with 110 existing genomes to allow scientists to determine their possible positions in DNA. This new information can help to study mutations in diseases in humans, as well as how to best preserve endangered species. The study was published in Nature. Loan: Susanna Hamilton

A large international consortium led by scientists from Uppsala University և Broad Institute WITH: և Harvard lists the genomes of 130 mammals և Analyze the data along with the 110 existing genomes to allow the scientist to determine the possible positions DNA:“This new information can help to study mutations in diseases in humans, as well as how to best preserve endangered species. The study was published in Nature:

When scientists and doctors want to understand what mutations cause diseases such as cancer, heart disease or schizophrenia, they compare the genomes of many patients with appropriate controls. They often detect tens of hundreds of areas predisposed to disease. These regions usually do not match the genes, but are outside the genes; և each region can contain hundreds of mutations, in which it is difficult to pinpoint one predisposing disease.

Professor Kerstin Lindblad-Toh

Kirstin Lindblad-Toh, a professor at Uppsala University and SciLifeLab և MIT և Harvard Institute. A large international consortium of scientists from Uppsala University և MIT և Harvard Line Institute has sequentially sorted the genomes of 130 mammals, analyzing the data along with 110 existing genomes to allow scientists to determine their possible positions in DNA. This new information can help to study mutations in diseases in humans, as well as how to best preserve endangered species. The study was published in Nature. Credit: Michael Valersedt

During evolution, most positions in DNA change randomly many times. If the position has not changed in 100 million years (since the first mammal), that particular position is likely to have a potential function in the genome. With this concept, evolutionary constraints make it much easier to find the regulatory elements that govern when, where, and how much protein is produced by a gene.

“Comparing the genomes of 240 mammals will help geneticists identify mutations that lead to human disease,” said Kerstin Lindblad-Toh, a professor at the University of Uppsala at SciLifeLab և MIT և Harvard Line Institute.

In addition to understanding the human genome, all of these genomes, which have been extensively sampled by mammals, can be used to study how specific species adapt to different environments. For example, some otters have a dense, waterproof coat, and some mice, but not all, adapt to wintering. These animal traits can help us understand human traits, such as metabolic diseases.

As a result of human activities under the influence of climate change շատ more animal habitats, it is becoming more and more important to protect endangered species. Scientists have traditionally studied many individuals of different species populations to understand the genetic diversity. This is important for understanding how to protect specific species. In this study, animals on the IUCN (International Union for Conservation of Nature) Red List of Endangered Species had smaller variations in their genome, consistent with their endangered status.

“We hope that our extensive data collection, which is available to scientists around the world, will be used to understand the genetics of disease and to protect biodiversity,” said Lindblad-Toh.

Read the largest collection of mammalian genomes that identify endangered species for more information on this study.

Reference. Zoonomia Consortium “Multi-tool of comparative genomics for scientific discovery and preservation”, 2020 November 11, Nature:,
DOI: 10.1038 / s41586-020-2876-6:

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