A team of scientists analyzed the genomes (complete set of DNA) of 240 mammals to better understand the origin of human disease.
An international team of scientists has studied the genetic material of various animals, including nearly 80% of mammal species, from dogs and bats to humans and monkeys.
The team said its work, published in 11 papers in the journal Science, pinpoints parts of the human genome that have remained unchanged for millions of years, providing information that could shed light on the origin of diseases like cancer and mental disorders like schizophrenia.
“This is a tool that can give us a lot of important information about human disease,” explained Patrick Sullivan, professor at the Karolinska Institute in Stockholm, Sweden, and author of one of the papers. inside of you.”
All living things contain DNA, the blueprint of life containing the instructions for the growth, development, and reproduction of an organism.
While some sections of DNA, known as genes, have evolved over millions of years, others have remained unchanged, which are called “evolutionarily conserved” genes.
The human genome contains about 20,000 genes that code for every protein in the body. It also has instructions indicating where, when, and how much protein should be produced.
These parts of the genome, known as regulatory elements, are much more difficult to identify than the parts that make up proteins.
So the scientists wanted to see if they could pinpoint these regions by analyzing mammalian genomes as part of the Zoonomia project, the world’s largest resource for comparative mammalian genomics. This is because some human genes share similarities with animal genes, for example, humans share 98.8% of their genetic material with chimpanzees.
Through detailed studies, scientists were able to identify regions of the human genome with previously unknown functions. They believe that these regions are probably regulatory elements and play a key role in the functioning of the genome.
Mutations in these regions are believed to play a role in the genesis of certain diseases or disorders.
“Most of the mutations that lead to common diseases such as diabetes or obsessive-compulsive disorder are outside the gene and are related to gene regulation,” said Kristin Lindblad-To, professor of comparative genomics at Uppsala University. Our research makes it easier to identify the mutations that lead to the disease and understand what is going wrong.”
Jennifer Meadows, a research fellow at Uppsala University and co-author of the disease paper, added: “Our analysis of 240 mammals gives us a better understanding of regulatory signals in the genome. We calibrated our results against positions known to contribute to disease, and then we can use them to suggest additional loci that could potentially contribute to the disease.” They prioritize neurological signs such as schizophrenia or autoimmune conditions including asthma or eczema.
Although there have been studies that have identified the genetic risk of certain diseases, experts say this new study helps shed light on how and why these genetic variations occur in the first place.
Professor Sullivan added: “This research project has really given me a much deeper understanding of the genome and how it works. Now I use it all the time trying to understand schizophrenia, suicide, depression and eating disorders.”
The scientists also studied medulloblastoma, the most common type of malignant brain tumor in children.
Karin Forsberg-Nielson, professor of stem cell research at Uppsala University, who led the oncology part of the study, said: “In patients with medulloblastoma, we found many new mutations in evolutionarily conserved lignins. We hope that the analysis of these mutations will pave the way for new diagnoses and treatments.
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