Tag Archives: DNA

Detecting the presence of hominins in ancient soil samples

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.

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

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

Mitochondrial DNA from 400 thousand year old humans

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.

The origins of the first Americans

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.

Last common paternal and maternal ancestors closer in time

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).

Hominin round-up

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

Some megafaunas of the recent past

Harvey was an imaginary, 2 m tall rabbit which befriended Elwood P. Dowd in Mary Chase’s 1944 comedy of errors named after the said rabbit, filmed in 1950 and starring James Stewart as the affable though deranged Dowd. Though not so tall, a giant fossil rabbit (relative to modern rabbits) weighing it at 12 kg has emerged from the prolific Late Neogene cave deposits of Minorca (Quintana, J. Et al. 2011. Nuralagus rex, gen. et sp. nov., an endemic insular giant rabbit from the Neogene of Minorca (Balearic Islands, Spain). Journal of Vertebrate Paleontology, v. 31, p. 231-240). At about 3 times heavier than Barrington my lagomorphophagic (rabbit-eating to the uninitiated) cat, this would have been, to him, a beast best avoided, as the name N. rex might suggest. So unexpected was a gigantic rabbit that, interestingly, it was first mistaken for a fossil tortoise, albeit one lacking a carapace.

Island faunas have long been recognized as havens for peculiar trends in evolutionary successions, either towards dwarfism as in the case of the tiny elephants on which H. floresiensis preyed until quite recently on the Indonesian island of Flores or gigantism as in this remarkable case. As the authors infer, on account of the creature’s ‘…(short manus and pes with splayed phalanges, short and stiff vertebral column with reduced extension/flexion capabilities), and the relatively small size of sense-related areas of the skull (tympanic bullae, orbits, braincase, and choanae)…’ this was a rabbit which sadly could not hop. This un-rabbit-like locomotion may well have been a result of it not having needed to hop, being so large as to challenge seriously the largest Neogene predators on the island – lizards – and thereby saving energy. For much the same evolutionary logic, neither did N. rex have long ears, having less need to detect a stealthy nemesis.

The demise of Late Neogene megafaunas in general has often been ascribed to human intervention. Though N. rex became extinct at around 3 Ma and avoided human predation, later giants did not fare so well. A case in point is the celebrated wooly mammoth, the last of the steppe mammoths, that first appeared in the fossil record of Siberia around 750 ka ago (Nicholls H. 2011. Last days of the mammoth. New Scientist, v. 209 (26 March 2011), p. 54-57). DNA evidence from hairs preserved in permafrost suggests that ancestors of the steppe mammoth line diverged with that of Asian elephants from African elephant ancestors around 5 Ma. Interestingly, ancestral steppe mammoths – without shaggy coats but having the archetypical curved tusks – roamed Africa until 3 Ma when they disappear to reappear in Europe and Asia, yet without adaptation to cold until the onset of northern glaciations around 2.5 Ma. At that point the true steppe mammoths evolved increased tooth enamel needed for a diet of mainly silica-rich grasses to resist wear. The family spread to North America when sea-level fell to expose the sea floor of the Bering Straits. The woolly mammoth is the star partly because specimens periodically turn up almost perfectly preserved in permafrost. This has allowed almost half of a full DNA sequence to be restored. Preserved haemoglobin from a woolly mammoth shares with that from modern musk oxen an ability to release oxygen at temperatures well below zero so that they could function even if their extremities became chilled.

The Woolly Mammoth at the Royal BC Museum, Vic...

Reconstructed woolly mammoth at the Royal BC Museum, Victoria, British Columbia (Image via Wikipedia)

Astonishingly, all elephants urinate so copiously that they soak their range lands in DNA, though it only lingers in ultra cold climes. This bizarre fact encouraged a large team of palaeobiologists to comb frozen soils in an alluvium section in Arctic Alaska for mammoth DNA (Haile, J and 17 others, 2009. Ancient DNA reveals late survival of mammoth and horse in interior Alaska.  Proceedings of the National Academy of Sciences of the USA, v. 106, p. 22352–22357). Mammoth DNA turned up in soils as young as 10.5 ka. Moreover mammoth overlapped with human occupation for several millennia, casting doubt on theories that mammoth extinction resulted either from human predation or the introduction of epidemic disease that might have felled mammoths quickly: they declined gradually. Yet the empirical fact that steppe mammoths in general and the woolly mammoth in particular survived through at least 8 major glacial-interglacial transitions only to become extinct at the start of the current Holocene interglacial period at the same time as humans recolonised the frigid desert of Arctic latitudes, where woolly mammoths could survive except at the last glacial maximum surely points to some influence that arose from human activity.