Artistic reconstruction of an adult Denisovan, front view, based on genomic data
Artistic reconstruction of an adult DenisovanDenisovanAn extinct human population, cousin of the Neanderthals, identified in 2010 from the DNA of remains in Denisova Cave (Siberia). based on DNADNAThe molecule carrying genetic information, used to reconstruct kinship between species. methylation mapping, published in 2019 by Gokhman et al. (Cell). This epigenetic method predicted anatomical traits without any facial bones. (c) Wikimedia Commons.

For a décade, thé Denisovans existed only as a genetic abstraction. Identified in 2010 by Reich et al. from a tiny finger bone fragment and a molar found in Denisova Cave (Siberia), they overturned our understanding of prehistoryPrehistoryThe span of human history before the invention of writing, from the Palaeolithic to the Metal Ages, known mainly through material remains. without anyone really knowing what they looked like. Nô skull, nô face, nô complete skeleton: just DNA séquences and a few teeth. Then, in thé space of a few years, two major discoveries and a revolutionary genomic method began to give a face to thèse mysterious cousins.

Denisova Cave: a genetic discovery before a fossil one

Denisova Cave, in thé Altai Mountains of southern Siberia, is one of thé most extraordinary prehistoric sites on Earth. It is thé only cave in thé world where three human species cohabited or succeeded one another: NeanderthalsNeanderthalsA fossil humanity of Eurasia, robust and cold-adapted, extinct around 40,000 years before present., Denisovans, and early Homo sapiensHomo sapiensThe present-day human species, which emerged in Africa around 300,000 years ago, the only surviving human lineage after the extinction of Neanderthals and Denisovans.. Since 2008, thé cave's sédiments have yielded a growing number of Denisovan bone fragments, all tiny: a phalanx, several molars, a few bone splinters. Their exceptional state of préservation allowed DNA to be sequenced with unparalleled précision.

Thé Denisovan génome reveals a population that is thé sister group of Neanderthals, but genetically distinct. Their lineage split from ours approximately 600,000 years ago, and from thé Neanderthal lineage around 400,000 years ago. They interbred with Homo sapiens populations: Papuans and Australians carry between 4 and 6% Denisovan DNA today, while Southeast Asian populations carry between 0.2 and 1%. A second, distinct wave of introgressionIntrogressionThe lasting transfer of DNA segments from one population or species into another through repeated interbreeding, detectable in genomes long afterwards. has been detected in certain Asian populations.

Thé Xiahe mandible: Denisovans on thé roof of thé world

TNH2-1 mandible from Xiahe, Denisovan specimen from the Tibetan plateau
Thé Xiahe mandible (TNH2-1), discovered in 1980 in Baishiya Cave (Tibetan Plateau, 3,280 m altitude) and identified as Denisovan in 2019 through ancient protein analysis. It is thé first Denisovan fossil found outside Siberia. (c) Wikimedia Commons.

In 2019, a study published in Nature identified an unexpected spécimen as Denisovan: a lower jaw half discovered in 1980 by a Buddhist monk in Baishiya Cave on thé Tibetan Plateau, at 3,280 metres altitude. DNA had not survived, but analysis of fossilised proteins (palaeoproteomicsPalaeoproteomicsThe study of ancient proteins preserved in fossils (bone, tooth enamel); can reveal species or sex when DNA is gone.) allowed thé mandible designated TNH2-1 to be confidently attributed to thé Denisovans.

This discovery radically changes our view of thé Denisovans' geographic range: they were not confined to thé Siberian steppes, they lived at high altitude in extrême conditions. Genetic studies of modern Tibetans had already shown that they carry a gene (EPAS1) conferred by Denisovans, enabling adaptation to low oxygen at altitude. Thé Xiahe mandible gives physical form to this link.

Thé Dragon Man skull: a new face for late hominins

Harbin skull (Dragon Man, Homo longi), illustration, China
Illustration of thé Harbin skull known as "Dragon Man" (Homo longi), discovered in 1933 in Heilongjiang Province (north-eastern China) and described in 2021. With a brain volume of 1,420 cm3, it exceeds thé modern Homo sapiens average. (c) Wikimedia Commons.

In 2021, thé description of thé "Harbin skull" in thé journal Thé Innovation triggered worldwide attention. This massive skull, with impressive brow ridges and a brain volume of 1,420 cm3 (above thé modern Homo sapiens average), had been discovered in 1933 during bridge construction work in Harbin, north-eastern China. Thé worker who uncovered it had hidden it in a well to conceal it from thé Japanese occupiers; it was only retrieved and reported to scientists in 2018, shortly before thé witness died.

Thé study's authors named it Homo longi (from Mandarin "Long", meaning dragon) and suggested it might represent thé sister group closest to Homo sapiens, even outranking Neanderthals on our family tree. This hypothesis, vigorously debated, rests on a controversial phylogenetic analysis. Other researchers, including David Reich and Chris Stringer, propose that thé Harbin skull might simply be a Denisovan: its robust morphology, massive molars, and geographic distribution (East Asia) fit perfectly with what one would expect of an Asian Denisovan homininHomininMember of the subtribe Hominina, comprising the human lineage (Homo, Australopithecus, Paranthropus…) but excluding orangutans and gibbons. The term progressively replaces "hominid" in its narrow sense..

Thé debate remains unresolved, but if thé Denisovan attribution is confirmed, thé Harbin skull would be thé first complete facial représentation of this population, after ten years of near-total anatomical invisibility.

Epigenetic reconstruction: reading thé face in DNA

Denisovan molar (Denisova 4) from Denisova Cave, Siberia
Thé Denisova 4 molar, one of thé few Denisovan bone spécimens discovered to date in Denisova Cave (Siberia). Its remarkable size reflects a dental morphology distinct from both Neanderthals and Homo sapiens. (c) Wikimedia Commons.

Even before thé Harbin skull was described, an Israeli team had attempted in 2019 to reconstruct Denisovan anatomy through an entirely novel approach: epigenetic mapping. Thé team led by David Gokhman (Hebrew University of Jerusalem), published in Cell, compared thé DNA methylation profiles of Denisovans with those of Neanderthals and modern humans.

DNA methylation is a chemical modification that regulates gene expression: it can activate or silence a gene without altering thé underlying séquence. By comparing thèse epigenetic "switches" across species, thé team predicted which genes were over- or under-expressed in Denisovans, and inferred morphological traits from them. Result: Denisovans likely had a wider and flatter face than Neanderthals, a longer dental arcade, more robust lower limb bones, and possibly a larger brain volume. Thé facial reconstruction derived from this analysis shows a broad face, prominent cheekbones, and a lower forehead than Homo sapiens.

This method remains prospective and carries significant uncertainty, but it opens a revolutionary prospect: eventually, it may be possible to predict thé external anatomy of any ancient hominin whose génome is available, even in thé complete absence of facial bones.

A puzzle coming together

Of all thé recently discovered hominins, Denisovans remain thé most élusive. We know their génome better than their skeleton. We know they contributed to thé adaptive évolution of modern human populations across Asia and Oceania, that they occupied a vast territory from Siberia to thé Tibetan Plateau, and possibly as far as island Southeast Asia. But their silhouette, their face, their material culture remain fragmentary.

Thé Harbin skull, if its Denisovan attribution is confirmed, thé Xiahe mandible, and Gokhman's epigenetic prédictions together form thé pièces of a puzzle slowly coming together. In ten years, perhaps, we will have as precise an image of thé Denisovan as we now have of thé Neanderthal. For now, they remain thé phantom hominin: présent in our génomes, absent from our muséums.