Neanderthals split into distinct regional groups that developed genetic differences far sooner than modern human populations typically did, according to a study published in Proceedings of the National Academy of Sciences. These findings were based on the analysis of a newly sequenced 110,000-year-old Neanderthal genome, which researchers compared with previously mapped DNA from several other Neanderthal remains.
While Neanderthals are well-documented in the fossil record, high-quality genomic information is much rarer. Most of the DNA we have comes from individuals who lived toward the end of their era, shortly before they became extinct around 40,000 years ago. However, this new research is based on the genetic information from a male Neanderthal known as D17, who lived approximately 110,000 years ago in the Denisova Cave in Siberia.
DNA extraction
The scientists were working with a small bone fragment recovered from the cave, which has yielded several important Neanderthal and Denisovan fossils over the years. They extracted DNA from the bone and used a process called high-coverage sequencing to reconstruct most of the genome with high accuracy. This involved reading every part of the DNA an average of 37 times.
The DNA revealed a lot about the individual the bone belonged to, not just when he lived and his biological sex. The team found long stretches of homozygosity in his genetic code, which is when a person inherits identical segments of DNA from both parents. The segments were so long that they suggest D17’s parents were closely related, possibly first cousins. This lack of genetic diversity suggests that Neanderthals in this region lived in very small, isolated populations.
The researchers then compared this genetic data with previously published high-quality Neanderthal genomes from locations in Europe and the Altai Mountains. They date from around 50,000 to 120,000 years ago.
Rapid genetic changes
The analysis showed that D17 was more closely related to an older Neanderthal from the same cave than those in the west. It also revealed that the genetic differences between eastern and western Neanderthals were as large as, or even greater than, those between the most genetically distinct modern human populations today.
According to the researchers in their paper, “Neanderthals in the Altai Mountains lived in groups that were smaller than later Neanderthals in the west.” Their groups were so small and isolated that genetic changes took hold much faster than they do in larger populations.
Because of this isolation, the team concluded that, “Neanderthal populations accumulated allele frequency [how common specific versions of a gene are within a group] differences more rapidly than the ancestors of present-day human groups.”
Written for you by our author Paul Arnold, edited by Gaby Clark, —this article is the result of careful human work. We rely on readers like you to keep independent science journalism alive.
If this reporting matters to you, please consider a donation (especially monthly). You’ll get an ad-free account as a thank-you.
Publication details
Diyendo Massilani et al, A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals, Proceedings of the National Academy of Sciences (2026). DOI: 10.1073/pnas.2534576123
The content is provided for information purposes only.