A study of the primate genome provides important insights into human biology and disease

Primate Genome Research: In a groundbreaking scientific endeavor, a team of dedicated scientists has successfully sequenced the genomes of an astonishing 233 primate species, marking the most comprehensive study of primate genomes ever. this species has ever been made. Published in the prestigious journal Nature, the study’s findings shed new light on the evolutionary trajectory of primates and have important implications for conservation efforts.

Among the study’s most surprising findings was the finding that the level of genetic diversity within a species does not necessarily correlate with that species’ risk of extinction. This fascinating discovery challenges conventional assumptions by showing that some endangered species, such as the Sumatran orangutan, exhibit high levels of genetic diversity, while others, such as the Sumatran orangutan, show high levels of genetic diversity. such as the northern white rhinoceros, have significantly lower levels.

The researchers attribute this phenomenon to a variety of factors that threaten different species. For example, the Sumatran orangutan faces immediate threats from habitat loss and poaching, while the northern white rhino struggles with poaching risks and a lack of genetic diversity.

What’s more, the study sheds light on how climate change that occurred more than six million years ago caused a dramatic change in the social structure of apes. Formerly characterized by small groups consisting of one male and several females, these primates have transitioned to complex societies consisting of many males and females. This transformative change suggests that environmental influences can significantly influence the development of social behavior.

With the aim of improving primate conservation efforts, the researchers hope the study’s findings will allow conservationists to more precisely target their initiatives. By understanding the genetic basis of extinction, conservationists can optimize their strategies and maximize their effectiveness.

Undoubtedly, the largest primate study ever undertaken has yielded astonishing discoveries that transcend the boundaries of primate biology and extend to humanity itself, shedding light on the factors that influence primate biology. Complex genetics distinguish us from our closest relatives. This ambitious international study has generated a wealth of new data that can be applied to many scientific fields, including human health, conservation biology and behavioral sciences.

Currently, our planet is home to more than 500 species of primates, including humans, monkeys, lemurs, lemurs, tarsiers and loris. Unfortunately, many of these remarkable creatures face serious threats from climate change, habitat destruction and illegal hunting. To address this pressing problem, the researchers sequenced the genomes of nearly half of all known primates, meticulously 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.

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Alison Behie, a distinguished primatologist at the Australian National University in Canberra, highlights the profound implications of the primate genome for our understanding of the human genome. “The more we understand the primate genome, the more we will understand the human genome“, also adds, “There’s the potential to do a lot more really interesting work when they increase that sample size to yield more species.”

Reflecting on the tremendous progress that has been made, Dong-Dong Wu, an evolutionary biologist at the Chinese Academy of Sciences in Kunming, revealed that just five years ago, the genomes of less than 10% of the primates have been sequenced.

A study of the primate genome provides important insights into human biology and disease

However, an important breakthrough occurred when Kyle Farh and his team at Illumina, a prominent San Diego-based sequencing company, devised a method to determine whether mutations in the human genome could cause disease by testing for similar mutations in great apes. This ground-breaking work, built on the sequencing of the monkey genome by Toáms Marquès Bonet and his colleagues at Pompeu Fabra University in Barcelona, ​​Spain, has paved the way for research. human disease through the prism of primate genomes, highlighting the potential to unravel mysteries. conservation, evolution and the human genome.

Marques Bonet recalls, “One day, Kyle called me and basically asked if I had any more genomes up for sequencing.”, Marques also adds, “There is an opportunity to preserve, develop and understand the human genome.

This pivotal conversation sparked a worldwide collaboration involving researchers from 24 countries, all eager to contribute samples and participate in the sequencing effort. Marquès Bonet praises the commitment of primatologists in Brazil and India, applauding their important contributions to a project of extraordinary proportions.

I am especially proud of the primatologists in Brazil and India,” he said, because these primate biodiversity hotspots have previously been underrepresented in genetic studies. “This is truly an extraordinary effort” he says.

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While sequencing efforts continue to move forward, Wu stressed that this project only marks the beginning of ongoing research. Even so, Marquès Bonet acknowledges the growing challenge of collecting samples from unsequenced species, as the project reaches an inevitable plateau. Although the road ahead to expanding research from 233 to 300 species seems increasingly difficult, the researchers remain steadfast in their quest for knowledge.


Concerning human biology and disease, primate resources promise invaluable insights that will improve our understanding. In a study led by Marquès Bonet and fellow researchers, the genomes of 233 primate species were used to classify the 4.3 million common gene variants found in the human genome. By examining how common these variants are across species, the researchers concluded that about 98.7% of the variants tested were unlikely to cause harm to humans. This knowledge can be used to identify disease-causing mutations in individuals whose entire genome or protein-coding region (exome) has been sequenced.

Another study by Wu and colleagues involved comparing the genomes of 50 species to trace the evolutionary history of primates. Through this comprehensive analysis, they identified thousands of dominant gene sequences in different branches of the tree. In particular, genes involved in brain development arose in the common ancestor of humans, great apes, and New World monkeys, laying the groundwork for the rapid evolution of the large human brain. Wu emphasizes that the expansion of the brain’s capabilities began a long time ago, providing insight into this extraordinary evolutionary journey.

A rich collection of gene variants previously thought to be unique to humans, as they were absent from ancient human relatives such as Neanderthals and Denisovans, have been discovered in many primates. Surprisingly, nearly two-thirds of the variants originally thought to be human alone were found in at least one other primate species, and more than half were found in two or more species.


In the field of behavioral science, the main aspiration is to identify the genetic mechanisms underlying specific behaviors. One of the studies successfully established this connection. The study, led by Xiao-Guang Qi, a behavioral ecologist at Northwestern University in Xi’an, China, focused on five species of snub-nosed monkeys, including humans, that form communities complex, multi-level guild consisting of large armies. of younger family members. unit .

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A study of the primate genome provides important insights into human biology and disease

By comparing the genomes of these socially complex proboscis monkeys with those of less socially related monkeys, known as strange-nosed monkeys, as well as more distant primate relatives, Qi and colleagues have identified genes likely to be involved in the formation of extended multi-level societies. .

The study found that climate change more than six million years ago catalyzed the transition of apes from small groups with one male and a few females to complex societies with many 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 primates. This. According to Grueter, the hormones dopamine and oxytocin in the brain play an important role. “Not that the current environment neatly explains their social organization, but what happened in the past is perhaps just as important or even more important.“.

Furthermore, the comprehensive genome analysis of all 233 primate species has profound implications for conservation efforts. Notably, it challenges the widely accepted view that lower genetic diversity, due to inbreeding during population decline, suggests a species is on the verge of extinction. Surprisingly, the study revealed that for some endangered species, population decline is so rapid that inbreeding doesn’t have enough time to manifest itself. As a result, factors other than inbreeding, such as habitat destruction, are emerging as major threats to the species’ resilience.

Largest primate genome study ever reveals surprises about humanity and our closest relatives https://t.co/vwwcZxjArT

– Nature (@Nature)
June 2, 2023

This groundbreaking study, which includes the largest primate genome sequencing effort to date, has yielded unparalleled discoveries that transcend the boundaries of primate biology. Its transformative impact permeates many sciences, and researchers express firm optimism that these discoveries will spur increased conservation efforts, unraveling the intricacies of biology. humans and promote a deeper understanding of our place in the primate lineage.

Categories: Trends
Source: HIS Education

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