Millions of mutations behind modern human diseases have been identified by studying the fossilized remains of our primitive ancestors.
Scientists mapped the DNA of over 800 individuals from 233 primate species – almost half of which still exist on Earth.
It increases the number of completed genomes fourfold, providing new information about diversity.
Lead author Professor Tomas Marques-Bonet, of Pompeu Fabra University, Barcelona, said: “Humans are primates.
“The study of hundreds of nonhuman primate genomes, given their phylogenetic position, is very valuable for human evolutionary studies, to better understand the human genome and the bases of our singularity, including the bases of human diseases and for their future conservation.”
Currently, the causes of many common diseases, such as diabetes and heart disease, are unknown, due either to the lack of genetic information or to the large number of factors involved.
Some are thought to originate when a set of genetic variations or mutations with a ‘mild’ effect act together to cause a disease like diabetes or cancer.
Co-author Dr. Kyle Farh, vice president of Artificial Intelligence at Illumina, said: “Six percent of the 4.3 million missense mutations identified are abundant in primates and are therefore considered ‘potentially benign’ in human disease, given that their presence is tolerated in these animals.”
They are DNA changes that result in different amino acids being encoded at a particular position in resulting proteins.
The international team used a deep learning algorithm called PrimateAI-3D developed by Illumina, San Diego, the world’s leading company in DNA sequencing.
It is a kind of chatbot that uses genome sequences instead of human language.
The project reported in the journal Science is the most complete catalog of primate genomic information produced to date – containing information on species from Asia, America, Africa and Madagascar.
Marques-Bonet said: “These studies have also indicated that the genetics of primates does not always match their taxonomy.
“We found several cases in which relationships among primate species are best described as complex and network-like rather than simple branching trees.”
The findings shed fresh light on the evolution of baboons – a large and diverse group of monkeys.
They show there have been several episodes of hybridization and gene flow among species that were not previously recognized.
Yellow baboons from western Tanzania, for instance, are the first known non-human primates to have received genetic input from three different lineages.
Co-lead author Jeffrey Rogers, of Baylor College of Medicine in Houston, said: “These results suggest the population genetic structure and history of introgression among baboon lineages is more complex than was previously thought.
“That shows that the baboons are a good model for the evolution of humans, Neanderthals and Denisovans.”
Early modern humans bred with Neanderthals and Denisovans – a mysterious sister group named after caves in Siberia where their remains were discovered – in a “Lord of the Rings”-style world of inter-species sex.
All three species shared the planet 50,000 years ago.
First author Lukas Kuderna, a PhD student at Illumina, added: “Our studies provide clues as to which species are in most dire need of conservation efforts, and could help to identify the most effective strategies to preserve them.”
The catalog has also halved the number of genomic innovations that were believed to be exclusively human.
It facilitates the identification of mutations that are not shared with primates that may be unique to humans.
Produced in association with SWNS Talker
Edited by Fatima Khalid and Saba Fatima
