Scientists find millions of gene mutations among primates including humans

The world’s most extensive analysis of primates has shone light on the genetic profiles of 233 species, finding linkages between the 16 primate families, including humans.

It’s one of 10 pieces of research from the Primate Genome Project (PGP) which have been released in a special issue of the journal Science and its related publications.

With only 1 in 20 non-human species having their genomes decoded previously, the PGP was established with the goal of eventually decoding the DNA of each of the more than 500 primate species worldwide and establishing a detailed landscape of the evolutionary order.

Now, researchers from 24 nations working as part of the PGP have compared 809 genomes from 233 primate species and uncovered 4.3 million shared genetic mutations. This, they anticipate, will expand knowledge on primate evolution and biodiversity, including where humans fit among their monkey, prosimian, greater and lesser ape cousins.

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“Our studies show which species are in the direst need of conservation efforts and can help identify the most effective strategies for preserving these species,” says Dr Lukas Kuderna from the Institute of Evolutionary Biology in Spain, who first authored the catalogue research.

One of the studies decrypted the genomes of hundreds of species related to humans. By doing so geneticists can seek out mutations that might be common across species and isolate benign variations from pathogenic ones.

Among these millions of mutations, only six percent are considered benign. That still leaves more than four million that could be pathogenic, or disease-causing.

To predict the pathogenicity of millions of mutations, the researchers use deep learning algorithms.

“If a ‘rare’ mutation cannot be found in the primate genome, it is very likely to cause a human disease,” says Dr. Kyle Farh, lead investigator from Illumina, which developed the algorithm.

“In addition, some of these rare mutations can cause, by themselves, some diseases considered polygenic [caused by more than one gene].”

The collection of studies also reveals new insights into primate speciation, where individual species differentiate from a common ancestor, hybridisation and adaptation to cold climates. Genomes from primates found across Africa, Asia and the Americas are all used to inform the research.

“This broad array of papers on primate genomics demonstrates the value and the power of comparative genetics,” says Dr. Jeffrey Rogers, the project’s lead investigator at the Human Genome Sequencing Center at Baylor College of Medicine, US.

“When we investigate the genomics of nonhuman primates, we not only learn about these species, which is important and timely, but we can also place human genetics into its proper comparative context, which provides new insights into human health and human evolution.”