I have always been interested in anthropology, and especially the study of hunter/gatherers, particularly the first modern humans who first made their appearance in Africa during the Pleistocene 200,000 years ago, and then migrated out of Africa about 70,000 years ago. It is such a pleasant thought to imagine them in their pristine environment, unadulterated by the havoc that people eventually created for other species with global warming, overpopulation and intense pressure on our environment. At that time, these early humans (Homo Sapiens Sapiens – us) lived in an unspoilt world with luxuriant growth of fruit and vegetables, and unending supply of small animals to eat. This is even without the huge animals such as mammoths and other large game which the male of the species was supposed to be so good at hunting. It seems that the hunter/gatherer existence was usually a very pleasant one. People had to work to get food for only 4 to 6 hours a day; the work was often cooperative and interesting, and they had the rest of the time to enjoy themselves. A far cry from most agrarian societies where most people lived lives of endless drudgery, working 10 or more hours a day, and being at the mercy of hunger when the crops failed because of drought or pestilence.
Early hunter/gatherers ate very healthily, and indeed the whole cult of “paleo” diets is based on what people were supposed to eat at this time (Paleolithic means stone age, which came a bit later, but essentially their way of life was very similar). These diets are based on the fact that high protein, moderate fat and low carbohydrate diets are less likely to make you fat because of the lack of refined sugar and grains, which were only available after people invented agriculture. (Although obesity was not unknown then – there are some art objects dating from this time which depict people who were undoubtedly very fat!)
The problem with agriculture was that the increasing amount of food produced by these societies allowed the population to increase vastly, but often limited their diets to those based on a few crops. Those early agrarians may not have been as healthy as their predecessors. While the increase in population led to the creation of elites who brought the modern world of technology science and art into existence, there was always a considerable cost to those at the bottom of society.
Were these early hunter/gatherers healthier in the sense of having fewer diseases? Many of the skeletons from that time show evidence of fractures and other injuries which in many cases would have been lethal. But it has always been presumed that people would not have suffered so many infectious diseases, because they did not live in such crowded societies, so bacteria and viruses did not get a chance to spread so much. But recently this has been put in question by some research on DNA, and particularly by comparing early modern human remains with Neanderthals. Neanderthals were not modern humans, but a closely related species which lived in Europe and other places outside Africa from about 200,000 years ago until about 40,000 years ago. They died out shortly after early modern people arrived on the scene, (the two species were co-existing from about 55,000 to 60,000 years ago) and it was always thought that they did not interbreed with Homo sapiens sapiens (us). But now the whole DNA sequence of Neanderthal remains has been identified, from many individuals, and it is clear that we share many genes with them, which must have come from interbreeding.
We don’t know why Neanderthals died out shortly after we came upon the scene. They were well adapted to the colder environment of Europe and had been successful for over 200,000 years. We now know that they had good language skills, had bigger brains than Homo Sapiens Sapiens, and had especially big occipital lobes that made them very good at visual discrimination. They were pale skinned, had blue eyes and often had red hair. They were very cold adapted, and could live easily in northern areas with little sunlight and in severe cold. It could have been that modern humans were more agile, more flexible and had a more complex culture than the Neanderthals, but the Neanderthals certainly had a complex culture as well. There is evidence that they may have made art and wore jewellery, and possibly they even buried their dead in graves in caves and rock shelters..
They were certainly not the brutish cave men of legend. So why did they die out? It may be that ‘we’ out-fought them, or competed more successfully for food and game.
But another theory is that it was infectious disease brought by the newcomers which did for the Neanderthals. Both species had genes relating to prevention of bacterial sepsis so pathogenic organisms must have been living in both, and may have been shared between them. But by the time the groups met, the viruses and bacteria will have been quite different. There must have been many diseases in Africa which developed after the group that became the Neanderthals left, and which were carried by people migrating out of Africa. For example, helicobacter, the bacteria responsible for stomach ulcers seems to have been one of them. This meant that when early modern humans brought helicobacter with them the Neanderthals would have had no resistance. There may well have been others with even more lethal effects. On its own, this is not proof of anything, and there is no direct evidence of infectious disease transmission between early humans and Neanderthals, but when you consider the record of Europeans in affecting people in other parts of the world (original Amerindians, Easter Islanders, Australians) with their diseases such as measles, tuberculosis, typhoid, and whooping cough (not to mention diabetes and alcohol from new diets), almost wiping them out, one can think that perhaps this was just first of many genocides by infection. There is evidence that Neanderthals did suffer from these diseases. Note that Africans on the whole have been more resistant to European diseases, at least in the sense that populations there did not decline when Europeans came, although this may have been because on the whole African diseases such as malaria were far more likely to kill Europeans than the other way around. It seems that many infections including tuberculosis, brucellosis, whooping cough and typhoid which were originally thought to have originated in pastoral animals actually originated in early modern humans in Africa, who then passed them to animals as they domesticated them, and they might have been passed to Neanderthals as well.
However this would not have been the only factor in the rapid disappearance of Neanderthals from the fossil record. Another was inbreeding. The parents of one Siberian Neanderthal studied was shown to be very closely related (e.g. double first cousins). We know that Neanderthals were almost certainly part of very small groups and genetic variants increasing susceptibility to infection would become more common in the population and the likelihood of infants being born with primary immune deficiencies increased.
But did it work the other way too? Did those early modern humans take over some of the best-adapted genes from Neanderthals? It seems clear that they did. It seems that there wasn’t enough time for pigment in skin to decrease by natural selection from the time early modern humans left Africa to prevent rickets. So our light skin, which enabled us to make essential vitamin D, may have come, at least partly, from the Neanderthals who had had another 200,000 years to develop this advantage. Neanderthal gene sequences coding skin and hair are found in the modern human genome and those instructions are as much as 70% Neanderthal, although we don’t yet know exactly what these sequences encode in skin. But it must have been important for modern humans to receive these genes as they survived so well.
This may have been true for immune system genes as well. In many of Neanderthals studied, their mitochondrial DNA, the type passed on unchanged through the ovum from mother to daughter, shows some gene patterns that are particularly important in immunity and infection control, and it seems that these were passed on to early humans. So the maternal (mitochondrial) genes inherited by many of us may have been instrumental in allowing early modern humans in Europe and South Asia to be more successful than they otherwise would have been.
Some of these gene patterns are also helpful in adaption to stress due to extreme cold, so improving survival. The main function of mitochondrial DNA in the body is to produce energy and some maternal DNA groups have a strong correlation with a type of climate, suggesting that it may provide a better resistance to extreme temperatures. If so, it would have been beneficial to Homo Sapiens to inherit Neanderthal maternal DNA, better adapted to the cold climatic conditions, especially since Homo Sapiens lived side-by-side with Neanderthal during the last ice age (70,000 to 10,000 years ago). Such DNA patterns would have progressively faded out of the population once the weather got warmer, except in northern Europe, Siberia or Central Asia, where it was still somewhat useful for survival.
Recent research has shown that everyone outside Africa has some Neanderthal genes.3 For Europeans and East Asians it is about 2%, in chunks of sequences that are exactly the same as Neanderthals amongst ordinary modern gene. But for East Asians (Chinese, Japanese, Melanesians) and also their descendants in the New World the percentage is higher – about 2.5%, and it seems that they must have come into contact and interbred with Neanderthals for a second time in the far East, thus getting a second chunk of Neanderthal DNA.
Many researchers have also pointed out that some Neanderthal genes are definitely deleterious to us. Humans outside Africa are more vulnerable to Type 2 Diabetes and cancer because they have a Neanderthal gene that are code for risk factors, although the increased risk is not great.
Another interesting point about the inheritance of Neanderthal genes is that so far no such genes have been identified through the fatherline (Y chromosome). All genes so far have been found in mitochondrial genes through the mother, and in the other chromosomes. It is supposed that this might be because the it was far more common in early societies for conquered women to be taken over and incorporated into the winning side, while conquered men were more likely to be killed before they can propagate their genes. But oddly, there is no Neanderthal influence in the X chromosome either, and none in the region which codes for testicular function. So another possibility is that male children with a Neanderthal father and a modern mother weren’t very fertile, so their progeny did not reproduce as successfully within the early modern human tribes, over very many years. Of course, the offspring of Neanderthal men who took early modern women to live in their groups would have died out with them, so we will never know whether that combination would work, except that it is said that some Neanderthal remains found in Spain just before they disappeared showed clear signs of anatomical admixture with early moderns. Perhaps though we will eventually find Neanderthal genes through the fatherline – we just haven’t tested enough people yet.
Finally and most interesting to me, Neanderthals did leave a lasting inheritance on us. It seems 2% of our genes are shared with Neanderthals, and these genes appear in almost all the human genome in discrete strands. But it also appears in the motherline – the mitochondrial DNA. I did my own DNA analysis recently, and I found that my motherline, W, originated in what is now Pakistan abut 45,000 years ago. It may be that sometime before that a Neanderthal woman had come into the tribe and passed on a specific gene 16223T, which is also found in almost all the Neanderthal women studied so far. That gene is in the W haplogroup today. People with the W haplogroup spent the last ice age in a refuge in Turkey, before passing through northern Scandinavia and then coming to Britain, presumably with the Vikings. (I was surprised at this because my mother line is Welsh back to my great grandmother, and the main Welsh motherline haplogroup H came not from the refuge in Turkey but from one in the Basque country, and repopulated Britain from the Atlantic). Anyway, I possess this Neanderthal gene, together with many other European and West Asian people living today. No Africans possess it, and it did not get to East Asia either. I don’t know, and neither does any one else if this gene conveyed any specific advantage on my motherline. But it survived all this time so I like to think it did.
The study of how modern humans took over from not only Neanderthals, but also other early groups – the Denosovians, Homo floriensis (the hobbit people) and other early humans who lived in Africa at that time, is fascinating in itself. But there is real practical value all this research as the science of immunity and DNA is really taking off. DNA evidence is even now being used to target how each of us will respond to different treatments especially for cancer, and this may well be the best direction of research in medical science in the future. So the more people get their own DNA analysed, the better we can understand the relationship between disease and immunity.
References
1. Charlotte J. Houldcroft1,2 and Simon J. Underdown, Neanderthal Genomics Suggests a Pleistocene Time Frame for the First Epidemiologic Transition March 31, 2015; doi: http://dx.doi.org/10.1101/017343;
2. Benjamin Vernot · Joshua M Akey Complex History of Admixture between Modern Humans and Neanderthals: The American Journal of Human Genetics 02/2015; 96(3).DOI:10.1016/j.ajhg.2015.01.006 ·
3, Origins of the Human Brain Holloway, RL (1995). Changeaux JP, Chavillon J, ed. Clarendon. pp. 42–54. ISBN 978-0-19-852307-9.
4.Slim Initiative in Genomic Medicine for the Americas (SIGMA) Type 2 Diabetes Consortium