Primate Genomic Study Offers Key Insights into Human Biology and Disease

Primate Genomic Study: In a groundbreaking scientific effort, a team of dedicated scientists has successfully sequenced the genomes of an astonishing 233 primate species, marking the largest study of its kind ever conducted. Published in the prestigious journal Nature, the study’s findings have shed new insights into the evolutionary trajectory of primates and have important implications for conservation efforts.

Among the study’s most unexpected revelations is that the level of genetic diversity within a species does not necessarily correspond to its risk of extinction. This intriguing discovery challenges conventional assumptions by demonstrating that certain endangered species, such as the Sumatran orangutan, exhibit high levels of genetic diversity, while others, such as the northern white rhinoceros, possess considerably lower levels.

Researchers attribute this phenomenon to the diverse range of factors that endanger different species. For example, the Sumatran orangutan faces imminent threats from habitat loss and poaching, while the northern white rhino faces the dangers of poaching and a deficiency in genetic diversity.

Primate genomic study offers key insights into human biology and diseases

Additionally, the study has shed light on how climate changes that occurred more than six million years ago instigated a notable change in the social structure of monkeys. These primates, which were previously characterized by small groups composed of a single male and a few females, transitioned to complex societies encompassing multiple males and females. This transformative change suggests that environmental influences can exert a significant influence on the evolution of social behavior.

Intended to improve primate conservation efforts, the researchers express hope that the study’s findings will allow conservationists to focus their initiatives more precisely. By understanding the genetic underpinnings of extinction risk, conservationists can optimize their strategies and maximize their effectiveness.

Without a doubt, the largest study ever conducted on primates has yielded surprising discoveries that transcend the limits of primate biology and extend to humanity itself, unraveling the intricate genetic factors that differentiate us from our closest relatives. This ambitious international study has generated a wealth of new data applicable to a wide range of scientific disciplines, including human health, conservation biology and behavioral sciences.

Currently, our planet is home to more than 500 species of primates, including humans, monkeys, apes, lemurs, tarsiers and lorises. Unfortunately, many of these remarkable creatures face serious threats from climate change, habitat destruction, and illegal hunting. To address this pressing problem, researchers sequenced genomes from nearly half of all known primate species, diligently analyzing more than 800 genomes derived from 233 species worldwide, representing all 16 primate families. The comprehensive findings of this study have been published in a series of articles in prestigious scientific journals such as Science and Science Advances.

Alison Behie, a leading primatologist at the Australian National University in Canberra, emphasizes the profound implications of primate genomics for our understanding of human genomics. “The more we understand about primate genomics, the more we will understand about human genomics“, also adds: “There is potential to do a lot more really interesting work as they increase the sample size to incorporate more species..”

Reflecting on the immense advances made, Dong-Dong Wu, an evolutionary biologist at the Chinese Academy of Sciences in Kunming, reveals that just five years ago the genomes of less than 10% of primate species had been sequenced.

Primate genomic study offers key insights into human biology and diseases

However, an instrumental breakthrough came when Kyle Farh and his team at Illumina, a renowned sequencing company based in San Diego, devised a method to determine whether mutations in the human genome could cause disease by examining similar mutations in great apes. This groundbreaking work, based on ape genomes sequenced by Tomàs Marquès Bonet and his colleagues at Pompeu Fabra University in Barcelona, ​​Spain, paved the way for human disease research through the lens of primate genomes, underscoring the potential to unravel the mysteries of conservation. , evolution and human genomics.

Marquès Bonet remembers: “Kyle called me one day and basically asked if I had any more genomes in the queue to sequence.“, adds Marques, “There was an opportunity for conservation, evolution and understanding of the human genome.

This pivotal conversation sparked a global collaborative effort involving researchers from 24 countries, all eager to contribute samples and participate in the sequencing effort. Marquès Bonet praises the dedication of primatologists from Brazil and India and applauds their instrumental contributions to a project of Herculean proportions.

“I am particularly proud of the primatologists from Brazil and India,” he says, because these primate biodiversity hotspots were previously underrepresented in genetic studies. “This is truly a herculean effort” he says.

While sequencing efforts continue to move forward, Wu emphasizes that this project marks just the beginning of an ongoing exploration. However, Marquès Bonet recognizes the growing challenge of obtaining samples of unsequenced species, as the project encounters inevitable stagnation. Although the path forward to expand the study from 233 to 300 species seems increasingly arduous, researchers remain steadfast in their search for knowledge.


With respect to human biology and disease, the resource of primates promises invaluable insights to improve our understanding. In a study led by Marquès Bonet and other researchers, the genomes of 233 primate species were used to classify 4.3 million common genetic variants found in the human genome. By examining the prevalence of these variants across species, the researchers deduced that approximately 98.7% of the variants tested probably pose no harm to humans. This knowledge can be leveraged to identify disease-causing mutations in individuals whose entire genome or protein-coding region (exome) has been sequenced.

Another study by Wu and his colleagues involved comparing the genomes of 50 species to trace the evolutionary history of the primate family tree. Through this exhaustive analysis, they identified thousands of genetic sequences that emerged as dominant in various branches of the tree. In particular, genes associated with brain development arose in the common ancestors of humans, apes, and New World monkeys, laying the groundwork for the rapid evolution of large brains in humans. Wu emphasizes that the expansion of brain capacity began long ago, offering insight into this remarkable evolutionary journey.

An extensive collection of genetic variants that were previously assumed to be unique to humans, as they were absent in archaic human relatives such as Neanderthals and Denisovans, have been discovered in several primate species. Surprisingly, almost two-thirds of the variants initially considered exclusively human were found in at least one other primate species, and more than half were detected in two or more species.


In the behavioral sciences, a key aspiration is to identify the genetic mechanisms underlying specific behaviors. One of the studies successfully establishes this connection. Led by Xiao-Guang Qi, a behavioral ecologist at Northwestern University in Xi’an, China, the research focused on five species of snub-nosed monkeys, including humans, that form complex multi-level societies consisting of large troops made up of smaller family units. .

Primate genomic study offers key insights into human biology and diseases

By comparing the genomes of these socially intricate snub-nosed monkeys with those of less socially related monkeys, known as odd-nosed monkeys, as well as more distant primate relatives, Qi and his colleagues identified genes potentially associated with the formation of expansive multilevel chains. . societies.

The study reveals that climate changes more than six million years ago catalyzed the transition of monkeys from small groups with a single male and a few females to complex societies with multiple males and females.

Co-author Cyril Grueter, an evolutionary anthropologist at the University of Western Australia in Perth, highlights the importance of past environmental factors in shaping the current social organization of these primates. According to Grueter, the brain hormones dopamine and oxytocin played a key role. “It is not the current environment that clearly explains your social organization, it is what happened in the past that is probably equally or even more important.”.

Furthermore, the comprehensive analysis of the genomes of all 233 primate species carries profound implications for conservation efforts. In particular, it challenges the widely accepted notion that lower genetic diversity, resulting from inbreeding during population declines, indicates a species on the brink of extinction. Surprisingly, the study reveals that, for certain threatened species, population declines have occurred so rapidly that inbreeding has not had enough time to manifest. Consequently, factors other than inbreeding, such as habitat destruction, emerge as major threats to a species’ resilience.

The largest study ever conducted on primate genomes has revealed surprises about humanity and our closest relatives

– nature (@Naturaleza)
June 2, 2023

This groundbreaking study, encompassing the largest primate genome sequencing effort to date, has produced unparalleled discoveries that extend beyond the boundaries of primate biology. Their transformative impact permeates multiple scientific disciplines, and researchers express unwavering optimism that these findings will drive better conservation efforts, illuminate the complexities of human biology, and foster a deeper understanding of our place within the primate lineage.

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