Hyderabad, June 2 (Bureau) A groundbreaking global study conducted by scientists worldwide has unveiled significant findings about the evolution of primates. This comprehensive investigation involved genome sequencing of over 800 individuals from 233 primate species, representing nearly half of all primate species on Earth. By combining these genetic analyses with the study of fossil remains, researchers have quadrupled the number of primate genomes available for study to date. The study also encompassed 83 samples from 19 major primate species in India, which were examined by scientists at the CSIR-Centre for Cellular and Molecular Biology (CCMB). This research has provided fresh insights into the genetic diversity and evolution of primates, which holds immense value in understanding and conserving the biodiversity of species closely related to humans. By comparing the genomes of 809 non-human primate individuals from 233 species to the human genome, the research team identified approximately 4.3 million common missense mutations.
These mutations affect the composition of amino acids, potentially altering the function of proteins and contributing to various human diseases. The identification of disease-causing mutations was made possible through the utilization of the PrimateAI-3D deep learning algorithm. Developed by Illumina, a world-leading DNA sequencing company, PrimateAI-3D is an artificial intelligence (AI) algorithm akin to ChatGPT for genetics, using genome sequences instead of human language.
One notable finding is that only rare missense mutations possess the potential to raise the risk of disease. Currently, the field of human and clinical genetics faces the challenge of detecting disease-causing mutations among the vast number of mutations present. The genetic causes of many common diseases, including diabetes and heart diseases, remain unknown due to insufficient genetic information and the complexity of multiple genetic factors involved. Some diseases are believed to result from the combined effects of a set of mutations with “mild” impacts, leading to polygenic diseases such as diabetes or cancer. “We have identified 6 per cent of the 4.3 million missense mutations, which are abundant in primates. We consider these to be ‘potentially benign’ in human diseases, given their tolerance in these animals,” stated Kyle Farh, Vice President of Artificial Intelligence at Illumina. This unique dataset, encompassing comprehensive primate genomic information, has shed light on primate evolution and the distinctiveness of humans. It represents the most complete catalog of primate genomic data produced thus far, covering nearly half of all primate species on Earth. The catalog includes information from primates across Asia, America, Africa, and Madagascar, enabling researchers to compare genomes and gain a deeper understanding of primate evolutionary history.
Govindhaswamy Umapathy, Senior Principal Scientist at CSIR-CCMB, whose group including Shivakumara Manu and Mihir Trivedi contributed to the research from India, emphasized the significant genetic diversity among primates across different geographical regions and taxonomies. Umapathy stated, “Studying this diversity is crucial for understanding human evolutionary studies, human diseases, and their future conservation.” Additionally, the study highlighted the low genetic diversity among the western hoolock gibbon, the sole ape species found in India, as well as the lion-tailed macaques from northeastern India and Western Ghats. Umapathy stressed the necessity of prioritizing conservation efforts, both in situ and ex situ, for these primates in India. Moreover, these studies challenged the conventional classification system of primates, revealing complex and network-like relationships between species rather than simple branching trees. “By providing insights into the most vulnerable species requiring conservation efforts, these studies can guide the development of effective preservation strategies,” remarked Vinay Kumar Nandicoori, Director.