Scientists at the Centre for Cellular and Molecular Biology (CCMB) here with researchers of the Institute of Evolutionary Biology, Pompeu Fabra University, Illumina (Spain), and Baylor College of Medicine, US, to study the genes of various primate species. They carried out genome sequencing of 809 individuals from 233 primate species, covering nearly half of all existing primate species on earth to understand evolution, human uniqueness and genetic factors behind common diseases like cancer and diabetes.
The teams combined their study of primate genes with the analysis of fossil remains, and expanded the number of primate genomes studied by four times, by including 83 samples from 19 major primate species.
The findings of this study were published in the May issue of the journal ‘Science.’ The research provides new insights into primate species, genetic diversity, and evolution. It offers a key to better understanding and conserving the biodiversity of the species that are most closely related to humans.
“Primates have a great genetic diversity varying between the different geographical regions and taxonomies. The study of this diversity is crucial for human evolutionary studies, human disease, and future conservation,” said CCMB senior principal scientist Govindhaswamy Umapathy, who contributed to the research along with his colleagues Shivakumara Manu and Mihir Trivedi.
Research had identified 6% of the 4.3 million common ‘missense’ mutations — affecting amino acids and proteins leading to many human diseases by comparing the genomes of non-human primates and the human genome. “These are ‘potentially benign’ in human diseases, given that their presence is tolerated in these animals,” said vice-president of Artificial Intelligence at Illumina Kyle Farh.
Only rare ‘missense’ mutations can raise the risk of disease and it is difficult to detect these from among the hundreds and thousands of mutations. Genetic causes of diseases such as diabetes and heart diseases, are unknown because of lack of information and due to a large number of factors.
Illumina had developed a ‘PrimateAI-3D deep learning algorithm’, a kind of ChatGPT for genetics using genome sequence instead of human language to identify the disease-causing mutations. The new genomic catalogue has halved the number of genomic signatures believed to be exclusively human. This facilitates the identification of those mutations not shared with primates that might be the foundation of the characteristics that make us human.
Publication of the unique dataset through this research includes the most complete catalogue of primate genomic information produced so far, providing new insights into primate evolution and what makes humans unique. It contains information on primates from Asia, America, Africa, and Madagascar, thereby enabling scientists to compare genomes to improve the understanding of the evolutionary history of primates
For example, it was found that the western Hoolock Gibbon, the only ape from India, and the Lion-tailed Macaques from northeastern India and Western Ghats, respectively, had low genetic diversity among the global primates, hence needing the highest priority conservation efforts. Genetics of primates do not always correspond with their classification system and the relationships among primate species are “best described as complex and network-like” rather than simple branching trees, said Mr.Umapathy.
“These studies provide clues about which species are most in dire need of conservation efforts, and could help to identify the most effective strategies to preserve them,” pointed out CSIR-CCMB director Vinay Kumar Nandicoori.