Neanderthals
We aren't the only human species to have ever walked on the face of the Earth.
These cousins of ours lived in Europe and West Asia about 45,000 years ago. Even though we share 99.7% of our DNA with the Neanderthals, we look slightly different from each other. Compared to humans, Neanderthals were shorter and thicker, had more developed jaws and weak chins. They also had large nostrils that allowed them to breathe the cold air in Europe. Interestingly, Neanderthals had bigger heads and thus bigger brains than our ancestors.
It is unclear whether this made them extra clever. But if we were so similar in many ways, why did we survive while they went extinct? The Neanderthals disappeared from different parts of Europe at different time points. The reasons behind their disappearance varied from one location to another. Similar to modern extinction of animals, Neanderthals may have disappeared due to competition and environmental factors. For centuries, our ancestors, who gave rise to modern humans, lived alongside the Neanderthals and both of them may have interbred, which shaped the evolution of modern humans.
Neanderthals had bodies that evolved to withstand cold, while Homo sapiens had technology on their side. Humans sewed clothing with needles and lived in complex shelters. They hunted a wide range of animals, birds, and fish with bows and arrows. Unlike Neanderthals, our ancestors may have also lived in larger groups. This allowed them to develop advanced social and cognitive skills. With all these factors, Homo sapiens could have simply been better equipped to survive.
At the same time, Neanderthals had a shorter lifespan. Their children died at an earlier age. Ultimately, the emergence of a new, technologically more advanced species called humans, may have created too much of a pressure for the Neanderthals. Recent findings, however, suggest that Neanderthals were as smart as Homo sapiens. They invented similar tools and developed a culture of their own. The only big difference seems to lie in the size of their groups.
They formed smaller communities that lived far from each other. It turned out that networking was as important back then as it is now. As small groups disappeared, their culture and progress perished with them. Climate could have also played a role in the disappearance of the Neanderthals. 70,000 to 12,000 years ago, the climate greatly fluctuated. There is evidence of dramatic cold waves that roughly coincide with the extinction of the Neanderthals. Imagine being used to living in a warm and mild land, when suddenly you are surrounded with icebergs or violent erupting volcanoes.
They had to rebuild their shelters, get accustomed to hunting new species and gathering new plants. Even though it is unlikely that a major environmental disaster killed the Neanderthals, these constant shifts in climate could have been detrimental to their survival. One theory suggests that Neanderthals may have also engaged in violent clashes with their rival Homo sapiens. It’s unlikely to be the case because Neanderthals were powerful hunters who couldn’t be easily wiped out in battle.
Another theory suggests that Neanderthals died out because of deficiencies in their diet. During cold conditions where plants hardly grow, Neanderthals relied on meat as their source of energy. Meat is rich in protein, but their bodies were not equipped to metabolize high amounts of protein. And since winters were long, they were forced to eat meat for long periods of time, which may have contributed to their extinction. In reality, the Neanderthals never perished. They live in us.
Our ancestors may have interbred with the Neanderthal and passed on their DNA to us. Analysis of human DNA showed that up to 4% of modern human DNA may have come from the Neanderthals. Neanderthals are not the only long lost human species. Denisovans from Siberia faced the same fate as our ancestors slowly spread around the globe. Unfortunately, we have far too little data to understand the interactions between these coexisting species. Perhaps, an unexpected finding will change our view of our cousin species once and for all.
Genetic studies on Neanderthal ancient DNA became possible in the late 1990s.
Since 2005, evidence for substantial admixture of Neanderthal DNA in modern populations is accumulating.
The divergence time between the Neanderthal and modern human lineages is estimated at between 750,000 and 400,000 years ago. The recent time is suggested by Endicott et al. (2010) and Rieux et al. (2014). A significantly deeper time of parallelism, combined with repeated early admixture events, was calculated by Rogers et al. (2017).
Le Moustier Neanderthal skull reconstruction, Neues Museum Berlin[
In July 2006, the Max Planck Institute for Evolutionary Anthropology and 454 Life Sciences announced that they would sequence the Neanderthal genome over the next two years. It was hoped the comparison would expand understanding of Neanderthals, as well as the evolution of humans and human brains.
In 2008 Richard E. Green et al. from Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, published the full sequence of Neanderthal mitochondrial DNA (mtDNA) and suggested "Neanderthals had a long-term effective population size smaller than that of modern humans." In the same publication, it was disclosed by Svante Pääbo that in the previous work at the Max Planck Institute, "Contamination was indeed an issue," and they eventually realised that 11% of their sample was modern human DNA. Since then, more of the preparation work has been done in clean areas and 4-base pair 'tags' have been added to the DNA as soon as it is extracted so the Neanderthal DNA can be identified.
The project first sequenced the entire genome of a Neanderthal in 2013 by extracting it from the phalanx bone of a 50,000-year-old Siberian Neanderthal.
Among the genes shown to differ between present-day humans and Neanderthals were RPTN, SPAG17, CAN15, TTF1, and PCD16.
A visualisation map of the reference modern-human containing the genome regions with high degree of similarity or with novelty according to a Neanderthal of 50 ka has been built by Pratas et al.
Researchers addressed the question of possible interbreeding between Neanderthals and anatomically modern humans (AMH) from the early archaeogenetic studies of the 1990s. As late as 2006, no evidence for interbreeding was found. As late as 2009, analysis of about one third of the full genome of the Altai individual showed "no sign of admixture". The variant of microcephalin common outside Africa, suggested to be of Neanderthal origin and responsible for rapid brain growth in humans, was not found in Neanderthals; nor was a very old MAPT variant found primarily in Europeans. However, more recent studies have concluded that gene flow between Neanderthals and AMH occurred multiple times over thousands of years.
Positive evidence for admixture was first published in May 2010. Neanderthal-inherited genetic material is found in all non- Sub Saharan African populations and was initially reported to comprise 1 to 4 percent of the genome. This fraction was refined to 1.5 to 2.1 percent. Further analyses have found that Neanderthal gene flow is even detectable in African populations, suggesting that some variants obtained from Neanderthals posed a survival advantage.
Approximately 20 percent of Neanderthal DNA survives in modern humans; however, a single human has an average of around 2% Neanderthal DNA overall with some countries and backgrounds having a maximum of 3% per human. Modern human genes involved in making keratin, a protein constituent of skin, hair, and nails, contain high levels of introgression.
For example, the genes of approximately 66% of East Asians contain a POUF23L variant introgressed from Neanderthals,[clarification needed] while 70% of Europeans possess an introgressed allele of BNC2. Neanderthal variants affect the risk of developing several diseases, including lupus, biliary cirrhosis, Crohn's disease, type 2 diabetes, and SARS-CoV-2. The Val92Met variant of the MC1R gene, which has not been found in Neanderthal genomes but is putatively Neanderthal, and may be weakly associated with red hair and UV radiation sensitivity, is found at a frequency of 5% in Europeans, 70% in Taiwanese and 30% in other East Asian populations.
While interbreeding is the most parsimonious interpretation of these genetic findings, the 2010 research of five present-day humans from different parts of the world does not rule out an alternative scenario, in which the source population of several non-African modern humans was more closely related than other Africans to Neanderthals because of ancient genetic divisions within early Hominoids.
Research since 2010 refined the picture of interbreeding between Neanderthals, Denisovans, and anatomically modern humans. Interbreeding appears asymmetrically among the ancestors of modern-day humans, and this may explain differing frequencies of Neanderthal-specific DNA in the genomes of modern humans. Vernot and Akey (2015) concluded the greater quantity of Neanderthal-specific DNA in the genomes of individuals of East Asian descent (compared with those of European descent) cannot be explained by differences in selection. They suggest "two additional demographic models, involving either a second pulse of Neanderthal gene flow into the ancestors of East Asians or a dilution of Neanderthal lineages in Europeans by admixture with an unknown ancestral population" are parsimonious with their data.
Kim and Lohmueller (2015) reached similar conclusions:
" According to some researchers, the greater proportion of Neanderthal ancestry in East Asians than in Europeans or West Asians is due to purifying selection is less effective at removing the so-called 'weakly-deleterious' Neanderthal alleles from East Asian populations. Computer simulations of a broad range of models of selection and demography indicate this hypothesis cannot account for the higher proportion of Neanderthal ancestry in East Asians than in Europeans. Instead, complex demographic scenarios, likely involving multiple pulses of Neanderthal admixture, are required to explain the data."
Khrameeva et al. (2014), a German-Russian-Chinese collaboration, compiled an elementary Neanderthal genome based on the Altai individual and three Vindjia individuals. This was compared to a consensus chimpanzee genome as the out-group and to the genome of eleven modern populations (three African, three East Asian, three European). Beyond confirming a greater similarity to the Neanderthal genome in several non-Africans than in Africans, the study also found a difference in the distribution of Neanderthal-derived sites between Europeans and East Asians, suggesting recent evolutionary pressures. Asian populations showed clustering in functional groups related to immune and haematopoietic pathways, while Europeans showed clustering in functional groups related to the lipid catabolic process.
Kuhlwilm et al. (2016) presented evidence for AMH admixture to Neanderthals at roughly 100,000 years ago.
At minimum, research indicates three episodes of interbreeding. The first occurred with some modern humans. The second occurred after the ancestral Melanesians branched off; these people seem to have bred with Denisovans. The third involved Neanderthals and the ancestors of East Asians only.
2016 research indicates some Neanderthal males might not have viable male offspring with some AMH females. This could explain the reason why no modern man has a Neanderthal Y chromosome.
In October 2023, scientists reported that an anatomically-modern-human-to-Neanderthal admixture event occurred roughly 250,000 years ago, and also noted that roughly 6% of the Altai Neanderthal genome was inherited from anatomically modern humans.
In December 2023, scientists reported that genes inherited by modern humans from Neanderthals and Denisovans may biologically influence the daily routine of modern humans, including the ability for some humans to wake earlier than others. Similar to Europeans, modern Indians derive around 1-2% genetic make-up from ancient hominins, Neanderthals and Denisovans, however, Indians carry a much larger variety of these ancient genes compared with other populations. It is unclear what, if any, advantage these genes may have provided.
Complete DNA methylation maps for Neanderthal and Denisovan individuals were reconstructed in 2014. Differential activity of HOX cluster genes lie behind many of the anatomical differences between Neanderthals and modern humans, especially in regards to limb morphology. In general, Neanderthals possessed shorter limbs with curved bones.
https://en.wikipedia.org/wiki/Neanderthal_genetics
This extended period of genetic exchange left a lasting mark on the genomes of modern Eurasians, who carry a small percentage of Neanderthal DNA. The study, published in Nature, analyzed ancient and modern human DNA to provide a more precise timeline for interbreeding between Neanderthals and Homo sapiens.
This interbreeding, which began around 50,500 years ago and lasted approximately 7,000 years, left a lasting impact on the genomes of modern Eurasians.
The study examined DNA from 58 ancient human remains found across Eurasia, along with present-day human genomes. This analysis revealed an average date of 47,000 years ago for Neanderthal-Homo sapiens interbreeding, refining previous estimates.
The findings also suggest that the initial migration of modern humans out of Africa into Eurasia was largely complete by 43,500 years ago.
This extended period of interbreeding helps explain why East Asians have a higher proportion of Neanderthal genes compared to Europeans and West Asians. As modern humans migrated eastward, they likely carried Neanderthal genes from earlier interbreeding events, leading to a gradual accumulation of these genes in East Asian populations.
Different groups may have separated and continued interbreeding at different times, contributing to the genetic diversity observed today. Neanderthal genes may have provided some adaptive advantages to early humans, potentially influencing traits related to immunity, skin pigmentation, and even our response to certain diseases.
Learn more: https://www.nature.com/articles/d41586-024-04065-y
Image: Reconstruction of a Neanderthal
https://www.nhm.ac.uk/disc.../who-were-the-neanderthals.html