Global primate genome study reveals their evolution and applications for human health

Two new investigations carried out by global scientists combine genome sequencing of over 800 individuals from 233 primate species, covering nearly half of all existing primate species on Earth, with the study of fossil remains and multiplying by four-fold the number of primate genomes available to date.

Two new investigations carried out by global scientists combine genome sequencing of over 800 individuals from 233 primate species, covering nearly half of all existing primate species on Earth, with the study of fossil remains and multiplying by four-fold the number of primate genomes available to date. This also included 83 samples from 19 major primate species in India also studied by scientists at CSIR-Centre for Cellular and Molecular Biology (CCMB).

The study provides new information about primates' genetic diversity and evolution, which is important for understanding and conserving the biodiversity of the closest species to our own. By comparing the genomes of 809 non-human primate individuals from 233 species to the human genome, the research has identified 4.3 million common missense mutations. Such mutations affect the composition of amino acids and can alter the function of proteins, leading to many human diseases.

One of the current limitations of human and clinical genetics is the inability to detect, among hundreds of thousands of mutations, those that cause diseases. Currently, the genetic causes of many common diseases, such as diabetes and heart diseases, are unknown, both due to the lack of genetic information and the large number of genetic factors involved.

Some diseases are thought to originate when a set of mutations with "mild" effects act together to cause a disease of polygenic origin, like diabetes or cancer. "We have identified 6 per cent of the 4.3 million missense mutations, and these are abundant in primates. We consider these to be 'potentially benign' in human diseases, given that their presence is tolerated in these animals," states Kyle Farh, Vice President of Artificial Intelligence at Illumina.

The identification of disease-causing mutations has been achieved thanks to the PrimateAI-3D deep learning algorithm. PrimateAI-3D is an artificial intelligence (AI) algorithm developed by Illumina, the world's leading company in DNA sequencing. The algorithm is a kind of ChatGPT for genetics that uses genome sequence instead of human language.

The publication of this unique dataset includes the most complete catalog of primate genomic information produced so far, covering nearly half of all existing primate species on Earth. It contains information of primates from Asia, America, Africa, and Madagascar. T

his catalog has enabled the investigators to compare genomes, to improve the understanding of the evolutionary history of primates and it has provided key insights into what makes us human. According to Govindhaswamy Umapathy, Senior Principal Scientist at CSIR-CCMB whose group, include Shivakumara Manu and Mihir Trivedi contributed to this research from India, said, "Primates have a great genetic diversity that varies between the different geographical regions and taxonomies. The study of this diversity is crucial for human evolutionary studies, human disease, and for their future conservation."

Further, he added that the study also found that the western hoolock gibbon, the only ape from India and lion-tailed macaques from northeastern India and Western Ghats, respectively had low genetic diversity among the global primates examined in this study. He stated that these primates need to be given highest priority both in situ and ex situ conservation efforts in India.

These studies have also indicated that the genetics of primates does not always correspond with their current classification system. The research found several cases in which relationships among primate species are best described as complex and network-like rather than simple branching trees. "These studies provide clues as to which species are in most dire need of conservation efforts, and could help to identify the most effective strategies to preserve them," Vinay Kumar Nandicoori Director, CSIR-CCMB.

Lastly, the new genomic catalog has halved the number of genomic signatures that were believed to be exclusively human. This observation facilitates the identification of those mutations not shared with primates that might be the foundation of the characteristics that make us human. (ANI)

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