Tag: DNA

Family links among the Neanderthals of Siberia

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Caves used by the Neanderthals of southern Siberia: A – location map; B – Chagyrskaya Cave; C – Okladnikov Cave. (Credit: adapted from Skov et al.; Extended Data Fig. 1)

The early focus on Neanderthals was on remains found in Western Europe from the 19th century onwards. That has shifted in recent years to southern Siberia in the foothills of the Altai mountains, despite the fossils’ fragmentary nature: a few teeth and bits of mandible. The Denisova Cave became famous not just because it contained the easternmost evidence of Neanderthal occupation but through the genetic analysis of a tiny finger-tip bone. It proved not to be from a Neanderthal but a distinctly different hominin species, dubbed Denisovan (see: Other rich hominin pickings; May 2010). What Denisovans looked like remains unknown but genetic traces of them are rife among living humans of the western Pacific islands and Australia, whose ancestors interbred with Denisovans, presumably in East Asia. Modern people indigenous to Europe and the Middle East have Neanderthal genes in their genomes. Other bone fragments from Denisova Cave also yielded Neanderthal genomes, and the cave sediments yielded traces of both groups (see: Detecting the presence of hominins in ancient soil samples; April 2017). Then in 2018 DNA extracted from a limb bone from the cave clearly showed that it was from a female teenager who had had a Neanderthal mother and a Denisovan father (see: Neanderthal Mum meets Denisovan Dad; August 2018). These astonishing and unexpected finds spurred further excavations and genetic analysis in other caves within 100 km of Denisova Cave. This was largely led by current and former co-workers of Svanti Pääbo, of the Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany: Pääbo was awarded the 2022 Nobel Prize in Physiology or Medicine for his coordination of research and discoveries concerning ancient human genomes. Their enormous field and laboratory efforts have paid astonishingly valuable dividends (Skov, L. and 34 others 2022. Genetic insights into the social organization of Neanderthals. Nature v. 610, p. 519–525; DOI: 10.1038/s41586-022-05283-y).

To the previously analysed 18 Neanderthal genomes from 14 archaeological sites across Eurasia (including Denisova Cave) Skov et al. have added 13 more from just two sites in Siberia (the Chagyrskaya and Okladnikov caves). Each site overlooks valleys along which game still migrates, so they may have been seasonal hunting camps rather than permanent dwellings: they are littered with bison and horse bones. Tools in the two 59-51 ka old human occupation levels are different from those at the older (130 to 91 Ka) Denisova Cave about 100 km to the east. As at the much older site, human fossils include several teeth and fragments of bones from jaws, hands, limbs and vertebrae. The detailed genomes recovered from 17 finds shows them to be from 14 individuals (12 from Chagyrskaya, 2 from Okladnikov).

Chagyrskaya yielded evidence for 5 females (3 adults and 2 children) and 7 males (3 children and 4 adults). One female estimated to have lost a premolar tooth when a teenager was the daughter of a Chagyrskaya adult male. He, in turn, was brother or father to another male, so the girl seems to have had an uncle as well. Another male and female proved to be second-degree relations (includes uncles, aunts, nephews, nieces, grandparents, grandchildren, half-siblings, and double cousins). The two people from Okladnikov were an adult female and an unrelated male child. The boy was not related to the Chagyrskaya group, but the woman was, her former presence at that cave lingering in its cave-sediment DNA. None of the newly discovered individuals were closely related to six of the seven much older Denisova Cave Neanderthals, but the Okladnikov boy had similar mtDNA to one individual from Denisova.

Further information about the Chagyrskaya group came from comparison of DNA in Y-chromosomes and mitochondria. The father of the teenage girl had two types of mtDNA – the unusual characteristic of heteroplasmy – that he shared with two other males. This suggests that three of the males shared the same maternal lineage – not necessarily a mother – and also indicates that they lived at roughly the same time. The mtDNA recovered from all Chagyrskaya individuals was much more varied than was their Y-chromosome DNA (passed only down male lineage). One way of explaining that would be females from different Neanderthal communities having migrated into the Chagyrskaya group and mated with its males, who largely remained in the group: a ‘tradition’ known as patrilocality, which is practised in traditional Hindu communities, for instance.

So, what has emerged is clear evidence for a closely related community of Neanderthals at Chagyrskaya, although it cannot be shown that all were present there at the same time, apart from the five who show first- or second-degree relatedness or mitochondrial heteroplasmy. Those represented only by individual teeth didn’t necessarily die there: adult teeth can be lost through trauma and deciduous teeth fall out naturally. There was also some individual physical connection between the two caves: The Okladnikov woman’s DNA being in the sediment at Chagyrskaya. Looking for DNA similarities more widely, it appears that all individuals at Chagyrskaya may have had some ancestral connection with Croatian Neanderthals, as did the previously mentioned mother of the Denisovan-Neanderthal hybrid girl. Four of the Chagyrskaya individuals can also be linked genetically to Neanderthals from Spain, more so than to much closer individuals found in the Caucasus Mountains. So, by around 59-51 ka the results of a wave of eastward migration of Neanderthals had reached southern Siberia. Yet the apparent matrilineal relatedness of the Okladnikov boy to the much older Neanderthals of Denisova Cave suggests that the earlier group continued to exist.

The new results are just as fascinating as the 2021 discovery that ancient DNA from Neolithic tomb burials in the Cotswolds of SW England suggests that the individual skeletons represent five continuous generations of one extended family. The difference is that they were farmers tied to the locality, whereas the Siberian Neanderthals were probably hunter gatherers with a very wide geographic range.  Laurits Skov and his colleagues have analysed less than one-quarter of the Neanderthal remains already discovered in Chagyrskaya and Okladnikov caves and only a third of the cave deposits have been excavated. Extracting and analysing ancient DNA is now far quicker, more detailed and cheaper than it was in 2010 when news of the first Neanderthal genome broke. So more Neanderthal surprises may yet come from Siberia. Progress on the genetics of their anatomically-modern contemporaries in NE Asia has not been so swift.

See also:  Callaway, E. 2022. First known Neanderthal family discovered in Siberian cave.  Nature online 19 October 2022.

Wider traces of the elusive Denisovans

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We know that when anatomically modern humans (AMH) arrived in Asia they shared the landscape with ‘archaic’ humans that had a much longer pedigree. In 2010 an individual’s little-finger bone dated to around 30 to 49 ka old was found in the Denisova Cave in central Siberia (at 50°N). It yielded a full genome that was distinctly different from those of AMH and Neanderthals (see: Other rich hominin pickings; May 2010). Four other fossils found subsequently in the Denisova Cave contained similar DNA. Checking the DNA of living humans and fossil Neanderthal remains revealed that the newly discovered human group had interbred with both. In the case of AMH, segments of Denisovan DNA are found in the genomes of indigenous people living in East and South Asia, Australia, the Pacific Islands and the Americas, at levels of 0.2%, rising to 6% in Melanesian people of Papua-New Guinea. But such introgressions have not been found in Europeans (but see below), suggesting that the Denisovans were restricted to Asia.

There have been suggestions that at least some of the ‘archaic’ human remains found widely and abundantly in China may have been Denisovans; although they might equally be of Homo erectus. But none of the Chinese fossils have been subjected to gene sequencing – those found in caves outside tropical and sub-tropical climates might retain DNA just as well as Neanderthal and even older remains in temperate Europe. Yet a partial lower jaw discovered in a cave on the Tibetan Plateau (at 35°N) did yield proteins that had close affinities to those recovered from Siberian Denisovans. Now similar analyses have been performed on an abnormally large molar found in a cave in Northern Laos, showing that it too is most likely to be from a young (as suggested by its being little worn), possibly female (it lacks male-specific peptides), Denisovan. The locality lies at about 20°N, far to the south of the other two Denisovan sites (Demeter, F. et al. A Middle Pleistocene Denisovan molar from the Annamite Chain of northern Laos. Nature Communications, v. 13, article 2557; DOI: 10.1038/s41467-022-29923-z). Sparse as the evidence is, Denisovans were able to tolerate climate differences across 30 degrees of latitude.

A probable Denisovan molar from 164 to 131 ka old cave sediments in northern Laos. (credit: Demeter, et al.; Fig. 2)

The Wikipedia entry for Denisovans is a mine of additional information. For instance, detailed analysis of the roughly 5% of their genome that indigenous people of New Guinea carry suggests that the two groups may have interbred there as late as 30 ka. Since Both New Guinea and Australia were until 8 thousand years ago part of the Sahul landmass when sea level was low during the last ice age, these inferences add tropical occupancy to the Denisovan range. Does this suggest that Papuans and indigenous Australians migrated with Denisovans, or had the latter crossed the sea from Timor earlier and independently, after moving from Asia by ‘hopping’ from island to island through eastern Indonesia? There is a possibility that Denisovans could even have survived in Sahul until as late as 14.5 ka. Even more odd, modern Icelandic people are unique among Europeans in having detectable traces of Denisovan DNA. However, rather than having been directly shared between Denisovans and ancestral Scandinavians – a possibility – it may have been carried by Neanderthal-Denisovan hybrids migrating westwards from Siberia with whom the Icelanders’ ancestors interbred. There are other interesting points in the Wikipedia entry. One is that the consistently lower Denisovan ancestry in living East Asians compared with people of Oceania, may indicate two separate waves of eastward migration by AMH. The latter may have arrived first, had greater contact with Denisovans and then moved on across seaways to remain isolated from the later migrants.

Finally, something that puzzles me as a non-geneticist. If both Denisovans and Neanderthals died out as genetically distinct groups tens of millennia ago how could the genetic traces of interbreeding with AMH have been retained at such high levels until the present; i.e. through thousands of generations? Each of us carries a 50% deal of genes from our parents. Then with each subsequent generation the proportion is diluted, so that we inherit 25% from grandparents, 12.5 % from great-grandparents and so on. Yet Papuans still have 5 to 6 percent of Denisovan DNA: much the same holds for Europeans’ Neanderthal heritage. Does such a high level of retention of this ancestry suggest that a large proportion of the earliest migrating AMH individuals stemmed from generation to generation interbreeding on a massive scale? Did the ‘newcomers’ and ‘locals’ band eventually together almost completely to merge genetically, or am I missing something … ? Probably

The DNA of some old mammoths

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The only positive outcome of the thawing of permafrost is that it exposes remains of ancient animals in a virtually intact state, most famously those of the woolly mammoth (Mammuthus primigenius). But not so well-preserved that anyone could be induced to feast on its thawed-out meat. Tales of select groups being served mammoth at banquets are almost certainly apocryphal, but several have tasted one, and found that the meat smelled rotten and tasted awful. Mammoth bones, being so large, are regularly found and most museums in the Northern Hemisphere display their enormous teeth. DNA from three species of these extinct elephants has been sequenced – North American and European woolly mammoths and the North American Columbian mammoth that thrived on the more temperate central plains. But they lived about 12 to 100 thousand years ago. Now genetic data are available from three molar teeth found in permafrost in the Chukochya river basin in northern Siberia. (van der Valk, T. and 21 others 2021. Million-year-old DNA sheds light on the genomic history of mammoths. Nature v.591, p. 265–269; DOI: 10.1038/s41586-021-03224-9).

Wooly mammoth tooth offered for sale at Christie’s in 2015, which fetched £2750 (Credit: Christie’s on-line archives)

The mammoth molars have been dated at 0.68, 1.0 and 1.2 Ma (conservative estimates), far older than a horse dated between 560 and 780 ka that yielded DNA several years back. The sheer mass of the teeth and the fact that they had been preserved in frozen soil shielded genetic material from complete breakdown, but it was nonetheless heavily degraded to fragments no more than 50 base pairs long. This presented a major challenge to the team of palaeogeneticists’ reconstruction of the three mammoths’ genomes. Comparing the genomes with those of far younger woolly mammoths and their closest living relatives, Indian elephants, reveals that the ancient beasts were cold-adapted and probably had woolly coats. Two of the genomes suggest direct ancestry to both later woolly mammoths, whereas the third – the oldest – can  be linked to the enormous Columbian mammoth (M. columbi) that lived on mid-American grasslands during the Late Pleistocene. During glacial maxima when sea levels were ~100 m lower than at present Siberian faunas could easily have migrated into and colonised the Americas, using the Beringia land bridge across the Bering Strait. An early migration by the oldest Siberian mammoth could have given rise to the Columbian mammoth, later crossings to the American woollies. In fact it seems that genetic strands from the two younger Siberian mammoths also entered the DNA of M. columbi at some stage in its evolution.

Interesting as these revelations are about Arctic ice-age megafaunas, finding human remains that predate a few 10’s of ka in permafrost is unlikely. Modern humans and  Neanderthals are known to have migrated through Arctic Siberia, and perhaps Denisovans did too. Some individuals may have been unfortunate enough to have fallen into boggy ground that froze to form permafrost. However, there is no evidence for older human species having moved north of about 40°N since the first Africans entered 1.8 Ma ago. In any case, without the protection of massive bones, human DNA would probably have degraded more quickly than did that of these old mammoths.

See also: Roca, A.L. 2021. Million-year-old DNA provides a glimpse of mammoth evolution. Nature, v. 591, p. 208-209; DOI: 10.1038/d41586-021-00348-w; Black, R. 2021. Oldest DNA sequenced yet comes from million-year-old mammoths (Smithsonian Magazine, 17 February, 2021)

How like the Neanderthals are we?

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An actor made-up to resemble a Neanderthal man in a business suit traveling on the London Underground. (Source: screen-grab from BBC2 Neanderthals – Meet Your Ancestors)

In the most basic, genetic sense, we were sufficiently alike for us to have interbred with them regularly and possibly wherever the two human groups met. As a result the genomes of all modern humans contain snips derived from Neanderthals (see: Everyone now has their Inner Neanderthal; February 2020). East Asian people also carry some Denisovan genes as do the original people of Australasia and the first Americans. Those very facts suggest that members of each group did not find individuals from others especially repellent as potential sexual partners! But that covers only a tiny part of what constitutes culture. There is archaeological evidence that Neanderthals and modern humans made similar tools. Both had the skills to make bi-faced ‘hand axes’ before they even met around 45 to 40 ka ago.  A cave (La Grotte des Fées) near Châtelperron to the west of the French Alps that was occupied by Neanderthals until about 40 ka yielded a selection of stone tools, including blades, known as the Châtelperronian culture, which indicates a major breakthrough in technology by their makers. It is sufficiently similar to the stone industry of anatomically modern humans (AMH) who, around that time, first migrated into Europe from the east (Aurignacian) to pose a conundrum: Did the Neanderthals copy Aurignacian techniques when they met AMH, or vice versa? Making blades by splitting large flint cores is achieved by striking the cores with just a couple of blows with a softer tool. At the very least Neanderthals had the intellectual capacity to learn this very difficult skill, but they may have invented it (see: Disputes in the cavern; June 2012). Then there is growing evidence for artistic abilities among Neanderthals, and even Homo erectus gets a look-in (see: Sophisticated Neanderthal art now established; February 2018).

Reconstructed burial of a Neanderthal individual at La Chappelle-aux-Saints (Credit: Musée de La Chapelle-aux-Saints, Corrèze, France)

For a long time, a pervasive aspect of AMH culture has been ritual. Indeed much early art may be have been bound up with ritualistic social practices, as it has been in historic times. A persuasive hint at Neanderthal ritual lies in the peculiar structures – dated at 177 ka – found far from the light of day in the Bruniquel Cave in south-western France (see: Breaking news: Cave structures made by Neanderthals; May 2016). They comprise circles fashioned from broken-off stalactites, and fires seem to have been lit in them. The most enduring rituals among anatomically modern humans have been those surrounding death: we bury our dead, thereby preserving them, in a variety of ways and ‘send them off’ with grave goods or even by burning them and putting the ashes in a pot. A Neanderthal skeleton (dated at 50 ka) found in a cave at La Chappelle-aux-Saints appears to have been buried and made safe from scavengers and erosion. There are even older Neanderthal graves (90 to 100 ka) at Quafzeh in Palestine and Shanidar in Iraq, where numerous individuals, including a mother and child, had been interred. Some are associated with possible grave goods, such as pieces of red ochre (hematite) pigment, animal body parts and even pollen that suggests flowers had been scattered on the remains. The possibility of deliberate offerings or tributes and even the notion of burial have met with scepticism among some palaeoanthropologists. One reason for the scientific caution is that many of the finds were excavated long before the rigour of modern archaeological protocols

Recently a multidisciplinary team involving scientists from France, Belgium, Italy, Germany, Spain and Denmark exhaustively analysed the context and remains of a Neanderthal child found in the La Ferrassie cave (Dordogne region of France) in the early 1970s  (Balzeau, A. and 13 others 2020. Pluridisciplinary evidence for burial for the La Ferrassie 8 Neandertal child. Scientific Reports, v. 10, article 21230; DOI: 10.1038/s41598-020-77611-z). Estimated to have been about 2 years old, the child is anatomically complete. Bones of other animals found in the same deposit were less-well preserved than those of the child, adding weight to the hypothesis that a body, rather than bones, had been buried soon after death. Luminescence dating of the sediments enveloping the skeleton is considerably older than the radiocarbon age of one of the child’s bones. That is difficult to explain other than by deliberate burial. It is almost certain that a pit had been dug and the child placed in it, to be covered in sediment. The skeleton was oriented E-W, with the head towards the east. Remarkably, other Neanderthal remains at the La Ferrassie site also have heads to the east of the rest of their bones, suggesting perhaps a common practice of orientation relative to sunrise and sunset.

It is slowly dawning on palaeoanthropologists that Neanderthal culture and cognitive capacity were not greatly different from those of anatomically modern humans. That similar beings to ourselves disappeared from the archaeological record within a few thousand years of the first appearance of AMH in Europe has long been attributed to what can be summarised as the Neanderthals being ‘second best’ in many ways. That may not have been the case. Since the last glaciation something similar has happened twice in Europe, which analysis of ancient DNA has documented in far more detail than the disappearance of the Neanderthals. Mesolithic hunter-gatherers were followed by early Neolithic farmers with genetic affinities to living people in Northern Anatolia in Turkey – the region where growing crops began. The DNA record from human remains with Neolithic ages shows no sign of genomes with a clear Mesolithic signature, yet some of the genetic features of these hunter-gatherers still remain in the genomes of modern Europeans. Similarly, ancient DNA recovered from Bronze Age human bones suggests almost complete replacement of the Neolithic inhabitants by people who introduced metallurgy, a horse-centred culture and a new kind of ceramic – the Bell Beaker. This genetic group is known as the Yamnaya, whose origins lie in the steppe of modern Ukraine and European Russia. In this Neolithic-Bronze Age population transition the earlier genomes disappear from the ancient DNA record. Yet Europeans still carry traces of that earlier genetic heritage. The explanation now accepted by both geneticists and archaeologists is that both events involved assimilation and merging through interbreeding. That seems just as applicable to the ‘disappearance’ of the Neanderthals

See also: Neanderthals buried their dead: New evidence (Science Daily, 9 December 2020)

Detecting the presence of hominins in ancient soil samples

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Out on the plains countless herbivores fertilise the ground by continual urination and defecation. A friend’s sheep are doing just that in the small field that came with my current home while they are keeping the grass under control.  Millions of hectares of prime agricultural land in China are kept fertile through disposal of human night soil from ‘honey wagons’ every day; it is even fed to fishes in small ponds. Such a nice economy also donates the DNA of the animal and plant inhabitants to the soil system. In 2015 analysis of environmental DNA from permafrost in Siberia and Alaska produced ‘bar codes’ for the now vanished ecosystems of what was  mammoth steppe during the climate decline to the last glacial maximum and the subsequent warming. The study revealed mammoth and pre-Columbian horse DNA and changes in the steppe vegetation, from which it was concluded that the steppe underwent regional extinction pulses of its megafauna linked to rapid climate ups and downs connected with Dansgaard-Oeschger cycles. It was but a small step to see the potential for studying distribution and timing of various hominins’ occupation of caves from the soils preserved within them, without depending on generally very rare occurrences of human skeletal remains.

Tourists at the entrance to Denisova Cave, Rus...
Tourists at the entrance to Denisova Cave, Russia (credit: Wikipedia)

The Max Planck Institute for Evolutionary Anthropology in Leipzig, now famous for extracting DNA from Neanderthal, Denisovan and possibly H. antecessor fossils, has applied the environmental DNA approach to sediments from 7 caves in France, Belgium, Spain, Croatia and Russia that span the period from 550 to 14 ka (Slon, V. and 30 others 2017.  Neandertal and Denisovan DNA from Pleistocene sediments. Science, v. 356 (online publication); doi:10.1126/science.aam9695). The sites had previously yielded fossils and/or artefacts. All of them contained mitochondrial DNA from diverse large mammals, four including archaic human genetic material supplied by Neanderthal individuals and Denisovans in the case of the Denisova cave. A key finding was Neanderthal mtDNA in one sedimentary layer that contained no skeletal remains – decay of a body was probably not involved. In two cases the DNA was from more than one individual. A variety of tests showed that surprisingly large quantities of DNA survive in soil and that it is spread evenly in sediment rather than being present in spots – an indication of derivation from urine, excreta or decayed soft tissue.

Although the study does not add to knowledge of hominin genetics, it confirms that the methodology is sufficiently advanced and efficient to detect hominin presence in fossil-free sediment. So this approach seems set to become a standard for many sites, such as that from California reported in the previous post, which suggest a human influence, or any cave sediments for that matter. Although skeletal remains are essential for reconstruction of bodily characteristics, hominin phylogeny seems set to cut loose from fossils. Hitherto suspected species’ presence in the time period where DNA analysis is feasible may be detected, such as Asian H. erectus. It may become possible to map or extend the geographic ranges of Denisovans and Neanderthals. Perhaps species new to science will emerge.

More on late Pleistocene hominin genetics here

Wade, E. 2017. DNA from cave soil reveals ancient human occupants. Science, v. 356, p. 363.

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Wade, E. 2017. DNA from cave soil reveals ancient human occupants. Science, v. 356, p. 363.

Our ancestors parted from other humans earlier than expected

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Despite the excitement raised by the discovery of remnants of 15 individuals of Homo naledi in a South African Cave the richest trove of hominin fossils remains that of Sima de los Huesos (‘pit of bones’) in northern Spain. In 2013 bone found in that cave from one of 28 or more individuals of what previous had been regarded as H. heidelbergensis, dated at around 400 ka, yielded mitochondrial DNA. It turned out to have affinities with mtDNA of both Neanderthals and Denisovans, especially the second. The data served to further complicate the issue of our origins, but were insufficient to do more than throw some doubt on the significance of H. heidelbergensis as a distinct species: nuclear DNA would do better, it was hoped by the palaeo-geneticists of the Max Planck Institute for Evolutionary Anthropology in Leipzig. Now a small fragment of those data (about 1 tro 2 million base pairs) have been presented to a London meeting of the European Society for the Study of Human Evolution – though not yet in a peer-reviewed journal. Anne Gibbons summarised the formal presentation in the 18 September 2015 issue of Science (Gibbons, Ann 2015. Humanity’s long, lonely road. Science, v. 349, p. 1270).

English: Cranium 5 is one of the most importan...
One of the best preserved discoveries in the Sima de los Huesos, Atapuerca (Spain). (credit: Wikipedia)

The partial nuclear DNA is a great deal more like that of Neanderthals from much more recent times than it is of either Denisovans and modern humans. It seems most likely that the Sima de los Huesos individuals are early Neanderthals, which implies that the Neanderthal-Denisovan split was earlier than 400 ka. That might seem to be just fine, except for one thing: Neanderthal and Denisovan DNA are much more closely related to each other than to that of ourselves. That implies that the last common ancestor of the two archaic human species must have split from the ancestral line leading to modern humans even further back in time: maybe 550 to 765 ka ago and 100 to 400 ka earlier than previously surmised. This opens up several interesting possibilities for our long and separate development. Since Neanderthals and perhaps Denisovans emigrated from Africa to Eurasia several glacial cycles ago, maybe people genetically en route to anatomically modern humans did so too. The Neanderthal and Denisovan genomes suggest that they interbred with each other and that could have been at any time after the genetic split between them. Famously, they also interbred with direct ancestors of living Eurasians, but there is no genetic sign of that among living Africans. The evidence suggests that the insertion of archaic genetic material was into new migrants from Africa around 100 to 60 ka ago at different points along their routes to Europe and East Asia. But, obviously, it is by no means clear cut what passed between all three long-lived groups nor when. It is now just as possible that surviving, earlier Eurasians on the road to modern humans passed on their own inheritance from relationships with Neanderthal and Denisovan to newcomers from Africa. But none of these three genetic groups ever made their way back to Africa, until historic times.

More on Neanderthals, Denisovans and anatomically modern humans

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Mitochondrial DNA from 400 thousand year old humans

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The Sima de los Huesos (‘pit of bones’) site in the cave complex of Atapuerca in northern Spain has yielded one of the greatest assemblages of hominin bones. Well-preserved remains of at least 28 individuals date to the Middle Pleistocene (>300 ka). Anatomically the individuals have many Neanderthal-like features but also show affinities with earlier Homo heidelbergensis, who is widely considered to be the common ancestor for anatomically modern humans and Neanderthals, and perhaps also for the mysterious Denisovans. Most palaeoanthropologists have previously considered this Atapuerca group to be early Neanderthals, divergent from African lineages because they migrated to and became isolated in Europe.

English: Cranium 5 is one of the most importan...
Human cranium from the Sima de los Huesos, Atapuerca mountains (Spain). (credit: Wikipedia)

The riches of the Sima de los Huesos ossuary made it inevitable that attempts would be made to extract DNA that survived in the bones, especially as bear bones from the area had shown that mtDNA can survive more than 4300 ka. There has been an air of expectancy in hominin-evolution circles, and indeed among the wider public, since rumours emerged that the famous Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany had initiated genetic sequencing under the direction of Svante Pääbo: perhaps another ‘scoop’ to add to their reconstructing the first Neanderthal and Denisovan genomes. The news came out in the 5 December 2013 issue of Nature, albeit published on-line (Meyer, M. and 10 others 2013. A mitochondrial genome sequence of a hominin from Sima de los Huesos, Nature, v. 504; doi:10.1038/nature12788) with a discussion by Ewan Callaway (Callaway, E. 2013. Hominin DNA baffles experts Nature, v. 504, p. 16-17).

The bafflement is because the mtDNA from a femur of a 400 ka  individual does not match existing Neanderthal data as well as it does that of the Denisovan from Siberia by such a degree that the individual is an early Denisovan not a Neanderthal. Northern Spain being thousands of kilometres further west than the Denisova cave heightens the surprise.  Indeed, it may be on a lineage from an earlier hominin that did not give rise to Neanderthals. The full Neanderthal and Denisovan genomes suggest that they shared a common ancestor up to 700 ka ago. So the Sima de los Huesos individual presents several possibilities. It could be a member of an original population of migrants from Africa that occupied wide tracts of Eurasia, eventually to give rise to both Neanderthals and Denisovans. That genetic split may have arisen by the female line carrying it not surviving into populations that became Neanderthals – mtDNA is only present in the eggs of mothers. Mind you, that begs the question of who the Neanderthal females were. Another view is that the Sima de los Huesos individual may be descended from even earlier H. antecessor, whose 800 ka remains occur in a nearby cave. Pääbo’s team have even suggested that Denisovans interbred with a mysterious group: perhaps relics of the earlier H. antecessor colonists.

Established ideas of how humans emerged, based on bones alone and very few individuals to boot, are set to totter and collapse like a house of cards. Interbreeding has been cited three times from DNA data: modern human-Neanderthal; modern human-Denisovan and Denisovan with an unknown population. Will opinion converge on what seems to be obvious, that one repeatedly errant species, albeit with distinct variants, has been involved from far back in the human evolutionary journey?  There seems only one avenue to follow for an answer, which is to look for well preserved H. heidelbergensis. H. antecessor and H. erectus remains and apply ever improving techniques of genetic retrieval. Yet there is a chance that stretches of ancient DNA can be teased out of younger fossils.

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The origins of the first Americans

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Whatever controversies still linger about when they arrived in the Americas, there can be little doubt that humans crossed what are now the Bering Straits from NE Asia using the landmass of Beringia exposed by sea-level fall during the last ice age. Of course, there have been controversies too about who they were; probably of East Asian origin but the waters muddied by the celebrated case of 9300 year-old Kennewick Man whose skull bears close resemblance to those of modern Europeans but also to those of the Ainu of northern Japan. Genetic studies of Y-chromosome DNA suggested that all early Americans stemmed from 4 separate colonising populations who may have entered via Beringia by different routes (coastal and across the interior of North America) and at different times. Now, perhaps unsurprisingly, a new kind of data seems set to stir things up immeasurably.

Sitting Bull, Red Cloud, Swift Bear, and Spott...
Famous Lacotans of the Dakotas (credit: Wikipedia)

After the triumphs of reconstruction of the Neanderthal and Denisovan genomes and the corollary that both interbred with anatomically modern humans, it was only a matter of time before the palaeogenetics of humans would be pushed back in time. The oldest remains to yield DNA are those of a boy from near Lake Baikal in Siberia excavated by Soviet archaeologists along with a rich trove of cultural remains, including female effigies. Such figurines are rare in Siberia, most being known from western Eurasia. Radiocarbon dating of the bones gave an age of around 24 ka, just before the last glacial maximum. The genetic information, specifically mtDNA and Y-chromosome DNA are potentially revolutionary (Raghavaan and 30 others 2013. Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans. Nature online doi:10.1038/nature12736).

The mtDNA (passed down the female line) places the individual in haplogroup U, but with little relation to living members with that ‘signature’. Modern haplogroup U is mainly confined to people now living in North Africa, the Middle East, south and central Asia, Europe and western Siberia up to the area where the skeleton was found but rare further to the northeast. The male-specific Y-chromosome DNA is related to haplogroup R widely spread today among men living in western Eurasia, south Asian and in the vicinity of the find. When the data were subject to statistical tests routinely used in distinguishing existing p[populations and lineages within them (principal component analysis) a surprise emerged. The boy plots separately from all living populations but halfway between modern Europeans and the genetic trend of native Americans: i.e. descendants from the population to which he belonged could have evolved towards both extant groups but certainly not to East Asians. Plotted on a map, the degree of shared genetic history of the ice-age south Siberian boy to modern humans shows links westward to Europeans and eastwards to northeastern Siberians and hence to native Americans.  Up to 38% of native American ancestry may have originated by gene flow from the population to which the boy belonged, similarly for Europeans as a whole.

The research helps explain traces of European genetic ‘signatures’ in native Americans rather than the commonly held view that this resulted from post-Columbian admixture with European invaders. It also links with the European-looking skulls of a number of early Americans which do not resemble those of East Asians once thought to be their forebears.

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Last common paternal and maternal ancestors closer in time

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One of the oddities of using human genetic material passed down the male (from Y chromosomes) and female lines (from mitochondria) to assess when fully modern humans originated is that they have hitherto given widely different dates: 50 to 115 ka and 150 to 240 ka respectively. Twice to three-times the age for a putative ancestral ‘mother’ compared with such a ‘father’ for humanity raised all kinds of problematic issues for palaeoanthropology, such as a possibly greater ‘turnover’ of lines of descent among males perhaps due to riskier lifestyles. Y-chromosome data  limited speculation on the timing of human colonisation outside of Africa to a maximum of 60 ka, even though there is fossil and archaeological evidence for a much earlier presence in the Levant and India.  The difference also questions the validity of molecular-clock approaches to evolutionary matters. Two new studies have lessened the phylogenetic  strains.

One examines Y chromosomes in 69 males from nine diverse populations from Africa, Eurasia and Central America (Poznik, G.D.  and 10 others 2013. Sequencing Y chromosomes resolves discrepancy in time to common ancestors of males versus females. Science, v. 341, p. 562-565). The US-French team applied sophisticated statistics as well as the elements of a molecular clock approach to both Y-chromosome and mitochondrial DNA, discovering in the process a hitherto unresolved feature in the African part of the male ‘tree’. The outcome is a significant revision of both male and female paths of descent: 120 to 156 ka and 99 to 148 ka to the last common ancestor in both lines. The upper limit is somewhat lower than the age of fossil evidence for the earliest anatomically modern humans.

The second study zeros-in on the European story, by examining the Y-chromosome data of 1200 men from Sardinia (Francalacci, P. and 38 others. Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny. Science, v. 341, p. 565-569) calibrated to some extent by the date when Sardinia was first colonised (7.7 ka). It too revealed new detail that enabled the Italian-US-Spanish team to refine the time when features of Sardinian Y-chromosome DNA would coalesce with those from the rest of the world. In this case the date for a last common paternal ancestor goes back to between 180 to 200 ka, more similar to the old dates for ‘African Eve’ and the earliest modern human fossils than to either that for male or female lines arrived at by Posnik et al. (2013), which are significantly younger.

Map of early migrations of modern humans
Map of early migrations of modern humans based on Y chromsome data (credit: Wikipedia)

Equally interesting are the comments on both papers in the Perspectives section of the issue of science in which they appear (Cann, R.L. 2013. Y weigh in again on modern humans. Science, v. 341, p. 465-7).Rebecca Cann of the University of Hawaii Manoa considers the two sets of results from Y-chromosomes potentially capable of refining models for the migration times of modern humans out of Africa and their interactions with the archaic populations that they eventually displaced from Europe and central and southern Asia (Neanderthals, Denisovans and Homo erectus respectively). She believes that will include signs of earlier excursions that the generally accepted diaspora between roughly 60 and 50 ka seemingly constrained by the previous 50 to 115 ka estimate for the last common paternal ancestor. That would help explain the presence of modern humans in India at the time of the Toba eruption (71 ka).

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Hominin round-up

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Our tenacious companions.

Male human head louse, Pediculus humanus capit...
Male human head louse, Pediculus humanus capitis (credit: Wikipedia)

Until recently humans and lice were inseparable and the same goes for all primates, and nearly all mammals. However, unlike fleas, which happily will suck any blood that is going provided it is easily tapped, lice are tailored to their hosts. Should a baboon louse, for instance, get into your short and curlies it will almost certainly die. In any case, again unlike fleas, the louse cannot leap: they spread through intimate contact. The human head louse spreads especially well among nursery- and infant-school children, as any parent knows, because lessons often involve them literally getting their heads together. Less well known is that Pediculus humanus eschew soiled or greasy hair and it is the well-scrubbed kids who suffer and spread ‘beasts on the head’. Conversely, the clothes louse that carries typhus and other infections is deterred by regular laundry and ironing. And then there is the  Continue reading “Hominin round-up” →