Scientists find two mysterious "ghost" ancestors hidden in our DNA

Scientists find two mysterious "ghost" ancestors hidden in our DNA
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The genome of modern humans contains traces of two unknown extinct lineages, in addition to Neanderthals and Denisovans, revealing a history of repeated mixing in evolutionary history

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Two previously unknown human relatives left traces of their DNA in people living today The finding adds another layer to the genetic legacy already known from Neanderthals and Denisovans, reinforcing the idea that human evolution was a long process of encounters and crossings between different populations of hominins.

Researchers from the University of California, Berkeley identified specific regions of the current genome that come from these unnamed ancestors and estimated when the crossings occurred. To achieve this, they used a new method that analyzes hundreds of genomes from people around the world and reconstructs the ancient genealogical connections between their DNA sequences.

One of these groups, which scientists call a ghost ancestor, interbred with modern humans in Africa more than 50,000 years ago. The encounter happened before the great migration of Homo sapiens to Europe and Asia. The DNA inherited from this lineage represents about 1% of the current human genome, a proportion similar to that left by Neanderthals.

This lineage separated from the ancestors of modern humans about 800,000 years ago, almost at the same time that Neanderthals and Denisovans differentiated from each other. However, the genetic exchange with our species occurred before the contacts with Neanderthals and Denisovans outside Africa.

Scientists found two mysterious ‘ghost’ ancestors hiding in our DNAA trace present in all humanity

“Previous publications suggested that ghost ancestry could exist, that is, from unknown archaic lineages in modern humans, but they had not concluded whether that ancestry was only in Africans or not, nor when the introgression event occurred,” explained Yulin Zhang, a graduate student at Berkeley and co-lead author of the study. “We were able to find and map genomic locations in modern humans that come from this ghost lineage and show that this ancestry is present in all current humans, not just in Africans.”

The researchers also detected genetic material from an even older population, which they call a superarchaic ancestor. This hominin descended from a lineage from about 1.8 million years ago and appears to have interbred with Denisovans in Eurasia, probably more than 200,000 years ago. Later, Denisovans mixed with Homo sapiens, and thus a small portion of that superarchaic DNA reached modern genomes.

“The finding of the superarchaic is especially interesting because it reveals genetic contributions from a human lineage that lived more than a million years ago, even though we do not have sequenced DNA from that population,” noted Arjun Biddanda, a postdoctoral researcher at Johns Hopkins University and co-lead author.

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Together, the results indicate that early Homo sapiens coexisted with numerous related human groups both in Africa and Eurasia over the last million years. These populations were genetically close enough to have fertile offspring and leave lasting biological traces.

A network of mixtures, not a simple tree

“With ancient DNA from Neanderthals and Denisovans and these new genealogical methods, we are learning that mixing between human populations was very widespread over time, and it is likely that it was also so on ancient time scales,” said Priya Moorjani, an associate professor of molecular and cell biology at Berkeley. “We often think of human evolution as a tree with branches, but the new genomic data and analytical methods reveal a much more interconnected story: rather a complex network of populations linked by repeated episodes of migration and mixing.”

The exact identity of these ghost and superarchaic populations is still unknown. However, the estimated dates of separation coincide with groups of Homo from the Middle Pleistocene living in Africa about 800,000 years ago and with populations of Homo erectus in Eurasia about 1.8 million years ago, respectively.

The team of Zhang, Biddanda, and Moorjani published the results on July 30 in the journal Science. The method they developed, called TRACE, allows tracking archaic contributions from current genomes, without the need for fossils with preserved DNA. By reconstructing the ancestral recombination graph, they identified segments whose origin dates back much further in time than that of known populations.

Thus, approximately 2% of the modern human genome comes from archaic hominins. In the case of the ghost lineage, both Africans and non-Africans inherited similar proportions, between 0.5 and 1% per person. The superarchaic signal, on the other hand, mainly appears within segments of Denisovan origin, especially in populations of Oceania, where Denisovan ancestry can reach up to 4%.


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