A international team of scientists has sequenced the genome of more than 800 individuals of 233 species of primates from around the world, the largest genetic catalog of these animals carried out to date and which demonstrates the enormous potential they can have for help diagnose human disease.
It is an immense database, with genomic information on almost half of the primate species on Earth (previously there were only 25 species sequenced), which has allowed to know details of the diversity and phylogeny of primates.
The investigations carried out with these genomes are published today in a special issue of the journal Science that includes five articles dedicated to human healththree of them directed by Tomàs Marquès-Bonet, ICREA researcher at the Institute of Evolutionary Biology (IBE) and professor of Genetics at Pompeu Fabra University.
In addition, eight out of ten of the genomes generated for this project have been sequenced at the Barcelona National Center for Genomic Analysis (CNAG).
Science special too includes studies on its evolutionthe comparison with our species and the conservation of primates.
“We are every time more aware that human health is intimately connected to the health of the planet at all levels. Preserving primates is crucial, but not only as a duty towards the preservation of biodiversity, but because they contain keys to understand ourselves,” Marquès-Bonet warned in statements to EFE.
Human genetics and primatology
The research by the Marquès-Bonet group arose from “the association of two fields whose collaboration can give very interesting results: human and clinical genetics, and evolution and primatology”, explains the biologist.
In 2018, Illuminate, a American company dedicated to genetic sequencinganalyzed primate genomic data obtained by the Marquès-Bonet group at the Institute of Evolutionary Biology to determine to what extent their mutations can help to better understand the human genome.
That article showed that “the presence or absence of certain mutations in primates they are very good indicative to predict to what extent a mutation is harmful or not in a disease.” But the statistical work was lacking. A large collection of primates to demonstrate the concept.
Following the same line, the new investigation by Marquès-Bonet has used the primate genome to learn about the human genome and diseases. “Their genetic variability, superior to ours, helps us to prioritize which mutations are the most relevant in human diseases.”
disease-causing mutations
The basic problem, and one of the limitations of current clinical and human geneticsis the inability to determine -among hundreds of thousands of mutations- which ones cause disease and which ones are caused by the disease.
To shed light on the subject and identify the disease-causing mutations in humansthe team applied a deep learning algorithm developed by Illumina to the primate genetic catalogue.
This analysis identified 4.3 million mutations in the primates capable of altering the function of proteins (the essential molecules for life) and that will now be used to carry out studies compared to humans.
“6% of these mutations are abundant in primates and are therefore considered ‘potentially benign’ in human diseasesince its presence in these animals is tolerated,” explains Kyle Farh, Illumina’s vice president of Artificial Intelligence and co-lead author of the papers.
Thanks to this algorithm and to primates “we have been able to validate that there are rare mutations that contribute in a very substantial way to the development of complex diseases”, such as diabetes, emphasizes the geneticist.
Differences between species and evolution
Another of the studies led by Marquès-Bonet has analyzed the human specific mutationsthat is, the genetic base that defines us as a species, and has managed to reduce by half the number of mutations that we do not share with other primates and that, therefore, are the result of human evolution.
Related news
The result is a list of only 80 genes with human-specific changes, some of them associated with brain development.
The Science special also includes a study on the evolution of baboon species, which shows that there were hybridization between many of themproving that “baboons are a good model for the evolution of humans, Neanderthals and Denisovans,” says Jeffrey Rogers, co-director of the study and a professor in the Department of Molecular and Human Genetics at Baylor School of Medicine.