CCMB team traces genomes of primates, mammals

As part of the study, the CCMB researchers collaborated with a team of international researchers to assemble 239 primate genomes and compared them with 202 other mammalian genomes to identify thousands of gene regulatory elements are the evolutionarily conserved in primates but not in other mammals

Hyderabad: What makes humans and other primates like apes and monkeys different from mammals? Are there any specific genes or other traits that sets primates like the homo sapiens and the great apes apart from other mammals?

Throwing some light on evolution of mammals and primates into two different branches in the animal kingdom, a group of international researchers, including geneticists from Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), have concluded a genomic study, published in Nature (November 29, 2023), identifying thousands of gene regulatory elements that are conserved during the evolution of primates and not in mammals.

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As part of the study, the CCMB researchers including senior principal scientist, Dr G Umapathy, PhD fellow Manu Shivakumara and PhD, Mihir Trivedi, collaborated with a team of international researchers to assemble 239 primate genomes and compared them with 202 other mammalian genomes to identify thousands of gene regulatory elements are the evolutionarily conserved in primates but not in other mammals. These regulatory elements also control the development of traits specific to primates.

“Here we construct a whole-genome alignment of 239 species, representing nearly half of all extant species in the primate order. Using this resource, we identified human regulatory elements that are under selective constraint across primates and other mammals. We detected 1, 11,318 DNase I hypersensitivity sites and 2, 67,410 transcription factor binding sites that are constrained specifically in primates but not across other mammals and validate their gene expression,” the study said.

Compared with the mammalian lineage, which includes more than 6,000 species separated by more than 100 million years of evolution, the primate order only consists of approximately 500 species that are separated by just 65 million years. At such short timescales, it is unclear whether the absence of genetic changes between species is owing to functional constraints, or simply because insufficient time has passed for random mutations to arise, researchers said.

The study also found that mutations in non-coding genomic regions are often associated with many human genetic diseases. According to the CCMB researchers, the results from this study have important implications for understanding the evolution and genetic basis of complex traits and disorders in humans.