Two new researches carried out by the world’s scientists combine the genome sequencing of more than 800 individuals from 233 species of primates, covering almost half of all extant species of primates on Earth, with the study of fossil remains, quadrupling the number of primate genomes available date.
It also included 83 samples from 19 major primate species in India, which were also studied by scientists from the CSIR-Centre for Cellular and Molecular Biology (CCMB).
The study provides new information about the genetic diversity and evolution of primates, which is important for understanding and preserving the biodiversity of the species closest to us.
By comparing the genomes of 809 primates from 233 species to the human genome, the research 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 disease-causing mutations among hundreds of thousands of mutations.
The genetic causes of many common diseases such as diabetes and heart disease are currently unknown, both due to the lack of genetic information and the large number of genetic factors involved.
Some diseases are thought to arise when a set of mutations with “mild” effects act together to cause diseases of polygenic origin, such as diabetes or cancer.
“We identified 6 percent of the 4.3 million missense mutations, and these are abundant in primates.” We consider them ‘potentially benign’ in human disease, given that their presence is tolerated in these animals,” says Kyle Farh, vice president of artificial intelligence at Illumina.
The identification of disease-causing mutations was achieved thanks to the PrimateAI-3D deep learning algorithm. PrimateAI-3D is an artificial intelligence (AI) algorithm developed by Illumina, a world leader 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 comprehensive catalog of primate genomic information to date, covering nearly half of all extant primate species on Earth.
Contains information on primates from Asia, America, Africa and Madagascar. Tits catalog has enabled researchers to compare genomes, improve understanding of primate evolutionary history, and provide key insights into what makes us human.
According to Govindhaswamy Umapathy, CSIR-CCMB Principal Scientist, whose group, including Shivakumar Manu and Mihir Trivedi, contributed to this research from India, said: “Primates have a large genetic diversity that varies between different geographic regions and taxonomies. The study of this diversity is key to human evolutionary studies, human disease, and their future conservation.”
He further added that the study also found that the western gibbon, the only great ape from India, and the lion-tailed macaques from northeastern India and the Western Ghats had low genetic diversity among the global primates examined in the study.
He stated that these primates need to be given top priority for both in situ and ex situ conservation efforts in India.
These studies have also shown that primate genetics do not always match their current classification system. Research has found several cases where relationships between primate species are best described as complex and networked rather than simple branching trees.
“These studies provide clues as to which species are most in need of conservation efforts and could help identify the most effective strategies to protect them,” Vinay Kumar Nandicoori Director, CSIR-CCMB.
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