2023-06-01 20:00:16
10 investigations in ‘Science’
The sequencing of the genome of 233 species of primates will make it possible to study human evolution, protect endangered animals, and better understand mutations associated with increased risk of diseases in humans, such as diabetes or cancer.
Knowing the genomes, evolutionary history, and behavior of primates brings us closer to a better understanding of our own species. This Thursday a special issue of the magazine Science publishes ten articles resulting from an international collaboration, the largest effort to date in this field which provides valuable insights into primate genomes. Specific, the sequencing of the genome of more than 800 specimens belonging to more than 230 species provides new information on crucial aspects, such as the path that leads to the appearance of new species from a common ancestor, the contributions of hybridization between different species to diversification, or how cold adaptations contribute to the evolution of social structure. .
In one of the main studies – whose results lay the foundations for several additional works included in the same special issue – the researchers present the complete genome of representatives of almost half of all species existing on the planet. The results, which have also been compared with the study of fossil remains of extinct species, have allowed the researchers to provide a new estimate of the divergence between humans and chimpanzees that they place between 9 and 6.9 million years ago, a date somewhat older than suggested by other recent analyses.
Also, remember that many primate species are threatened by factors such as climate change, habitat loss, and trade and illegal hunting, so it is urgent to know better the genetic diversity of the animals of this family to improve conservation strategies. “Studying genomes allows us to understand how this loss of biodiversity is reflected at the genetic level, which will help us understand which species are most in need of intervention in the future,” explains Lukas Kuderna, first author of one of the study, a researcher at the Barcelona Institute of Evolutionary Biology (CSIC-Pompeu Fabra University) and the Illumina AI laboratory.
divergence between species
A second work deals with issues around the process of appearance of new species (speciation), focusing on a process called incomplete lineage ordering. This genetic phenomenon appears when populations with genetic differences coexist so that later these differences are fixed in their descendants. “We are at a time when we are going to be able to sequence many more genomes at a better cost, we are going to be able to do much more complete analyzes that include more species of primates, that is going to allow us much more precision in our analyses,” he points out. Iker Rivas-Gonzlez, researcher at Aarhus University (Denmark) and first author of the article.
In this case, by accounting for the incomplete ordering of lineages in primates, the authors have succeeded in constructing a new primate phylogeny that matches the fossil record, unlike previous attempts. “Chromosomes are divided into fragments, each one with a different evolutionary history; not all parts of the genome provide the same information,” Rivas-Gonzlez explains. “Many studies use the genome as a unit, but we have applied statistical methods that They allow us to identify those parts of the genome, with their evolutionary history, and take it all into account.”
But characterizing primate variation not only allows us to better understand the evolution of species similar to primates. sapiens, also helps us better understand ours. “Humans are primates the study of hundreds of non-human primate genomes, given their phylogenetic position, is very valuable for human evolutionary studies”, explains Toms Marqus-Bonet, researcher at the Institute of Evolutionary Biology of Barcelona and professor at Pompeu Fabra University. “Also to better understand the human genome and the bases of our uniqueness, including the bases of human disease.”
Artificial intelligence
The authors explain that one of the limitations of clinical genetics research is the inability to identify disease-causing mutations. In fact, the genetic causes of common ailments such as diabetes and heart disease are still unknown due to the lack of genetic information and the large number of genetic factors involved. In fact, it is believed that some diseases originate when a set of genetic variations or mild mutations coincide to end up generating a disease of polygenic origin, such as diabetes or cancer.
Thanks to the works published in Science, the comparison of the genomes of non-human primates with that of A wise man has allowed to identify 4.3 million missense mutations (point mutations in which a single nucleotide change occurs), which can alter protein function, a phenomenon associated with many human diseases.
“Given the similarity between the genomes of humans and other primates, we have been able to use the genetic variants we observe across different species to generate an artificial intelligence algorithm (called PrimateAI-3D) that allows us to predict which mutations cause disease in humans,” rsays Lukas Kuderna. “Studying primate genetic diversity is not only important given the current global biodiversity crisis, but also has great potential to improve our understanding of the genetic basis of human disease.”
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