A genetic map of the British Isles

Many people in the UK feel a strong sense of regional identity, and it now appears that there may be a scientific basis to this feeling, according to a landmark new study into the genetic makeup of the British Isles.

An international team, led by researchers from the University of Oxford, UCL (University College London) and the Murdoch Childrens Research Institute in Australia, used DNA samples collected from more than 2,000 people to create the first fine-scale genetic map of any country in the world.

Their findings, published in Nature, show that prior to the mass migrations of the 20th century there was a striking pattern of rich but subtle genetic variation across the UK, with distinct groups of genetically similar individuals clustered together geographically.

By comparing this information with DNA samples from over 6,000 Europeans, the team was also able to identify clear traces of the population movements into the UK over the past 10,000 years. Their work confirmed, and in many cases shed further light on, known historical migration patterns.

Key findings

- There was not a single "Celtic" genetic group. In fact the Celtic parts of the UK (Scotland, Northern Ireland, Wales and Cornwall) are among the most different from each other genetically. For example, the Cornish are much more similar genetically to other English groups than they are to the Welsh or the Scots.

- There are separate genetic groups in Cornwall and Devon, with a division almost exactly along the modern county boundary.

- The majority of eastern, central and southern England is made up of a single, relatively homogeneous, genetic group with a significant DNA contribution from Anglo-Saxon migrations (10-40% of total ancestry). This settles a historical controversy in showing that the Anglo-Saxons intermarried with, rather than replaced, the existing populations.

- The population in Orkney emerged as the most genetically distinct, with 25% of DNA coming from Norwegian ancestors. This shows clearly that the Norse Viking invasion (9th century) did not simply replace the indigenous Orkney population.

- The Welsh appear more similar to the earliest settlers of Britain after the last ice age than do other people in the UK.

- There is no obvious genetic signature of the Danish Vikings, who controlled large parts of England ("The Danelaw") from the 9th century.

- There is genetic evidence of the effect of the Landsker line - the boundary between English-speaking people in south-west Pembrokeshire (sometimes known as "Little England beyond Wales") and the Welsh speakers in the rest of Wales, which persisted for almost a millennium.

- The analyses suggest there was a substantial migration across the channel after the original post-ice-age settlers, but before Roman times. DNA from these migrants spread across England, Scotland, and Northern Ireland, but had little impact in Wales.

- Many of the genetic clusters show similar locations to the tribal groupings and kingdoms around end of the 6th century, after the settlement of the Anglo-Saxons, suggesting these tribes and kingdoms may have maintained a regional identity for many centuries.

The Wellcome Trust-funded People of the British Isles study analysed the DNA of 2,039 people from rural areas of the UK, whose four grandparents were all born within 80km of each other. Because a quarter of our genome comes from each of our grandparents, the researchers were effectively sampling DNA from these ancestors, allowing a snapshot of UK genetics in the late 19th Century. They also analysed data from 6,209 individuals from 10 (modern) European countries.

To uncover the extremely subtle genetic differences among these individuals the researchers used cutting-edge statistical techniques, developed by four of the team members. They applied these methods, called fineSTRUCTURE and GLOBETROTTER, to analyse DNA differences at over 500,000 positions within the genome. They then separated the samples into genetically similar individuals, without knowing where in the UK the samples came from. By plotting each person onto a map of the British Isles, using the centre point of their grandparents' birth places, they were able to see how this distribution correlated with their genetic groupings.

The researchers were then able to "zoom in" to examine the genetic patterns in the UK at levels of increasing resolution. At the broadest scale, the population in Orkney (islands to the north of Scotland) emerged as the most genetically distinct. At the next level, Wales forms a distinct genetic group, followed by a further division between north and south Wales. Then the north of England, Scotland, and Northern Ireland collectively separate from southern England, before Cornwall forms a separate cluster. Scotland and Northern Ireland then separate from northern England. The study eventually focused at the level where the UK was divided into 17 genetically distinct clusters of people.

Dr Michael Dunn, Head of Genetics & Molecular Sciences at the Wellcome Trust, said: "These researchers have been able to use modern genetic techniques to provide answers to the centuries' old question - where we come from. Beyond the fascinating insights into our history, this information could prove very useful from a health perspective, as building a picture of population genetics at this scale may in future help us to design better genetic studies to investigate disease."

Quotes from the paper authors:

Sir Walter Bodmer from the University of Oxford, who conceived the People of the British Isles study and co-led the work, said: "The People of the British Isles study gave us a wonderful opportunity to learn about the fine-scale genetic patterns in the UK population. A key part of our success was collecting DNA from a geographically diverse group of people who are representative of their location. We are very grateful to all the volunteers who participated in the study."

Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics at the University of Oxford, who co-led the research, said: "It has long been known that human populations differ genetically, but never before have we been able to observe such exquisite and fascinating detail. By coupling this with our assessment of the genetic contributions from different parts of Europe we were able to add to our understanding of UK population history."

Dr Stephen Leslie, of Murdoch Childrens Research Institute in Australia, and one of the lead authors of the study, said: "Rich genetic information such as this tells us a great deal about our history and augments what we know already from archaeology, linguistic and historical records. Much of what we've learned about our history comes from the successful people of society, as they leave the strongest marks on history and archaeology. By using genetics and powerful statistical methods, we have been able to tell the story of the masses."

Dr Garrett Hellenthal, co-lead author of the study at UCL (University College London), said: "To tease out the subtle genetic differences between UK regions we had to use sophisticated statistical methods that model how our genomes are made up of stretches of DNA, passed down the generations from our ancestors".

Professor Simon Myers, from the University of Oxford, who co-led the development of the statistical approaches used in the study, said: "In future, increasingly large datasets will allow us to learn even more about the genetic history of the UK, and the similarly rich histories of other world regions, by applying similar techniques."

Paleolithic stone tools found among elephant remains some 500,000 years old at site in Revadim, Israe

Some 2.5 million years ago, early humans survived on a paltry diet of plants. As the human brain expanded, however, it required more substantial nourishment — namely fat and meat — to sustain it. This drove prehistoric man, who lacked the requisite claws and sharp teeth of carnivores, to develop the skills and tools necessary to hunt animals and butcher fat and meat from large carcasses.

Among elephant remains some 500,000 years old at a Lower Paleolithic site in Revadim, Israel, Prof. Ran Barkai and his graduate students Natasha Solodenko and Andrea Zupanchich of Tel Aviv University's Department of Archaeology and Ancient Near Eastern Cultures recently analyzed "handaxes" and "scrapers," universally shaped and sized prehistoric stone tools, replete with animal residue.

The research, published recently in PLOS One, represents the first scientifically verified direct evidence for the precise use of Paleolithic stone tools: to process animal carcasses and hides. The research was done in collaboration with Drs. Stella Ninziante Cesaro and Cristina Lemorini of La Sapienza, University of Rome, and Dr. Ofer Marder of Ben-Gurion University of the Negev.

Putting the puzzle together
"There are three parts to this puzzle: the expansion of the human brain, the shift to meat consumption, and the ability to develop sophisticated technology to meet the new biological demands. The invention of stone technology was a major breakthrough in human evolution," Prof. Barkai said. "Fracturing rocks in order to butcher and cut animal meat represents a key biological and cultural milestone.

"At the Revadim quarry, a wonderfully preserved site a half-million years old, we found butchered animal remains, including an elephant rib bone which had been neatly cut by a stone tool, alongside flint handaxes and scrapers still retaining animal fat. It became clear from further analyses that butchering and carcass processing indeed took place at this site."

Through use-wear analysis — examining the surfaces and edges of the tools to determine their function — and the Fourier Transform InfraRed (FTIR) residue analysis which harnesses infrared to identify signatures of prehistoric organic compounds, the researchers were able to demonstrate for the first time direct proof of animal exploitation by flint tools.

"Archaeologists have until now only been able to suggest scenarios about the use and function of such tools. We don’t have a time machine," Prof. Barkai said. "It makes sense that these tools would be used to break down carcasses, but until evidence was uncovered to prove this, it remained just a theory."

While the question of their function and production remained unanswered until now, there was little doubt that the handaxe and scraper, found at prehistoric sites all around the world, were distinct, used for specific purposes. By replicating the flint tools for a modern butchering experiment, and then comparing the replicas with their prehistoric counterparts, the researchers determined that the handaxe was prehistoric man's sturdy "Swiss army knife," capable of cutting and breaking down bone, tough sinew, and hide. The slimmer, more delicate scraper was used to separate fur and animal fat from muscle tissue.

"Prehistoric peoples made use of all parts of the animal," said Prof. Barkai. "In the case of the massive elephant, for example, they would have needed to use both tools to manage such a challenging task. The knowledge of how to make these tools was precious, and must have been passed along from generation to generation, because these tools were reproduced the same way across great territorial expanses and over hundreds of thousands of years.

"In this thousand-piece puzzle called archaeology, sometimes we find pieces that connect other pieces together. This is what we have found with the stone tools and animal bones."

Beer vessels provide evidence of an ancient Egyptian population in the area of in downtown Tel Aviv, 5,000 years ago.

Fragments of ancient pottery vessels used to prepare beer, unearthed during recent salvage excavations in downtown Tel Aviv, provide evidence indicating the presence of an ancient Egyptian population from more than 5,000 years ago.

“We found 17 pits in the excavations, which were used to store agricultural produce in the Early Bronze Age [3500-3000-BCE],” said Diego Barkan, director of the authority’s excavation.

“Among the hundreds of pottery sherds that characterize the local culture, a number of fragments of large ceramic basins were discovered that were made in an Egyptian tradition, and were used to prepare beer.”

“The vessels were manufactured with straw temper, or some other organic material in order to strengthen them, a method not customary in the local pottery industry,” he continued.

Barkan added that similar vessels were found in an Egyptian administrative building that was excavated in southern Israel’s Ein Habesor moshav.

“On the basis of previously conducted excavations in the region, we knew there is an Early Bronze Age site here, but this excavation is the first evidence we have of an Egyptian occupation in the center of Tel Aviv at that time,” he said.

Barkan said that the remnants represent the northernmost evidence ever obtained of an Egyptian presence in the Early Bronze Age.

“Until now, we were only aware of an Egyptian presence in the northern Negev and southern coastal plain, whereby the northernmost point of Egyptian occupation occurred in Azor,” he explained. “Now we know that they also appreciated what the Tel Aviv region had to offer, and that they too knew how to enjoy a glass of beer, just as Tel Avivians do today.”

According to the archeologist, beer was the “national drink of Egypt” in ancient times, and was bought and sold like other basic commodities, such as bread.

“Beer was consumed by the entire population, regardless of age, gender or status,” he said.

“It was made from a mixture of barley and water that was partially baked and then left to ferment in the sun.”

New light on the anatomy of Neanderthals

The Neanderthals (Homo neanderthalensis) inhabited Europe and parts of western Asia between 230,000 and 28,000 years ago; during the last few millennia they coincided with Homo Sapiens Sapiens, and became extinct for reasons that are still being challenged. The archaeological site at La Ferrassie, excavated throughout the 20th century, is a mythical enclave because it was where 7 Neanderthal skeletons, ranging from foetuses to almost complete skeletons of adults, were found.

Among the remains discovered at La Ferrassie is the skeleton of a 2-year-old Neanderthal child found between 1970 and 1973 and baptised La Ferrassie 8; over 40 years since its discovery it has turned out to be useful in shedding new light on the anatomy of this extinct species.

The study began by reviewing the collections at the Muséum National d'Histoire Naturelle in Paris and at the Museo d'Archéologie national de St. Germain-en-Laye linked to the excavations at La Ferrassie in 1970 and 1973; it was there that 47 new fossils belonging to La Ferrassie 8, which complete its skeleton further, were recovered. Remains of a skull, jaw, vertebrae, ribs and hand phalanges were found among the new fossils.

Featuring among the remains is a very complete left temporal bone and an auditory ossicle was found inside it: a complete stapes. Virtual 3D reconstruction techniques enabled this ossicle to be "extracted virtually" and studied.

This stapes is the most complete one in the Neanderthal record and certifies that there are morphological differences between our species and the Neanderthals even in the smallest ossicles in the human body. As Asier Gómez-Olivencia pointed out, "we do not yet know the relation between these morphological differences and hearing in the Neanderthals. This would constitute a new challenge for the future".

The study of these new remains has been published in the prestigious Journal of Human Evolution, and has also had the participation of researchers of the CNRS (French National Centre for Scientific Research) in Paris and Bordeaux. The fact that a discovery of such significance has been made thanks to reviewing the remains excavated in the 1970s provides the researcher with proof of "the importance and need to review old excavations. We're in no doubt about that".

Did a volcanic cataclysm 40,000 years ago trigger the final demise of the Neanderthals?

The Campanian Ignimbrite (CI) eruption in Italy 40,000 years ago was one of the largest volcanic cataclysms in Europe and injected a significant amount of sulfur-dioxide (SO2) into the stratosphere. Scientists have long debated whether this eruption contributed to the final extinction of the Neanderthals. This new study by Benjamin A. Black and colleagues tests this hypothesis with a sophisticated climate model.

Black and colleagues write that the CI eruption approximately coincided with the final decline of Neanderthals as well as with dramatic territorial and cultural advances among anatomically modern humans. Because of this, the roles of climate, hominin competition, and volcanic sulfur cooling and acid deposition have been vigorously debated as causes of Neanderthal extinction.

They point out, however, that the decline of Neanderthals in Europe began well before the CI eruption: "Radiocarbon dating has shown that at the time of the CI eruption, anatomically modern humans had already arrived in Europe, and the range of Neanderthals had steadily diminished. Work at five sites in the Mediterranean indicates that anatomically modern humans were established in these locations by then as well."

"While the precise implications of the CI eruption for cultures and livelihoods are best understood in the context of archaeological data sets," write Black and colleagues, the results of their study quantitatively describe the magnitude and distribution of the volcanic cooling and acid deposition that ancient hominin communities experienced coincident with the final decline of the Neanderthals.

In their climate simulations, Black and colleagues found that the largest temperature decreases after the eruption occurred in Eastern Europe and Asia and sidestepped the areas where the final Neanderthal populations were living (Western Europe). Therefore, the authors conclude that the eruption was probably insufficient to trigger Neanderthal extinction.

However, the abrupt cold spell that followed the eruption would still have significantly impacted day-to-day life for Neanderthals and early humans in Europe. Black and colleagues point out that temperatures in Western Europe would have decreased by an average of 2 to 4 degrees Celsius during the year following the eruption. These unusual conditions, they write, may have directly influenced survival and day-to-day life for Neanderthals and anatomically modern humans alike, and emphasize the resilience of anatomically modern humans in the face of abrupt and adverse changes in the environment.

Archaeologists explore the historical processes leading up to China's political unification

Archaeologists from The Field Museum in Chicago, IL and Shandong University (Jinan, China) have investigated the historical processes leading up to China's political unification through the juxtaposition of macro- and micro-scale analysis. The study offers new perspectives on how human impacts of infrastructural investments, interactive technologies, social contracts, and ideologies that were implemented during the Qin and Han Dynasties and before have helped establish the rough spatial configuration of what is today China.

Why humans cooperate in large social groupings is a key question for contemporary research. Thus, the repeated historical renegotiation of China's continent-scale political consolidations remains a scholarly focus after more than a generation of attention.

"Two millennia ago, Rome and the Han dominated their respective regions," said Gary M. Feinman, MacArthur Curator of Anthropology at The Field Museum. "While the two were roughly equal in their spatial extents at their peaks, the bounds of the Roman Empire were never historically reconstituted. In contrast, Chinese regions were reintegrated perpetually into one political unit. Why is that?"

Feinman and his colleagues question the widely advanced perspective that China's reunifications were simply due to the periodic threats from nomadic peoples to its north. While this view is not entirely discounted, the authors argue that the persistent reunifications were in part the consequence of social and economic actions that were taken during the Bronze and Iron Ages prior, during, and just after China's first unification under the Qin emperor.

The study used two distinct sets of data: first, the authors drew on documents that mostly pertain to the macro-scale.

Beginning with the aristocratic Shang rule in the second millennium B.C., the authors cite precocious developments in urbanization, high-intensity metal production and early writing as a few of the cultural practices of the region that were later adopted by the Zhou, who were the first to consolidate a large part of central China. Writings by Confucius during this time period typify a shift in leadership and governance from aristocratic forms to more explicit moral codes and defined social expectations for all.

Eventually, centralized authority largely broke down, leaving 5-10 formerly vassal states to vie for control during the Warring States era (453-221 B.C.). One of these local polities, the Qin state, began an episode of conquest that culminated in China's political unification. Changes set in motion during these times underpinned a national identity and the course of subsequent Chinese history.

For example, numerous roads were built, river transport was improved, and efforts were made to connect the walls that had been built at the northern limits of three of the warring states. Once linked, they became China's Great Wall.

Following a short period of Qin rule, dynastic power shifted to the Han, who maintained many of the unifying initiatives of the Qin. Ultimately the Han Dynasty produced political, social and ideological foundations for empire that have endured for more than a millennium.

The team also analyzed the results of an 18-year systematic archaeological settlement pattern study that they implemented in a small region on the coast of the Shandong Province.

"China's first great wall, the Great Wall of the Qi state, was built east-to-west across much of what is today Shandong Province," said Feinman. "It defined the southern limits of the Qi polity, which was the last of the warring states to be engulfed by the Qin armies before unification. We were able to follow the easternmost extension of the Qi wall for 50 kilometers as it ran across the northern limits of our study region. Based on our survey, the political border that the wall demarcated in the Warring States period likely had been a kind of boundary for more than 1,500 years."

Eventually, the wall was breached and the Qin defeated the Qi state, resulting in China's first episode of unification." Our perspective draws on data from the early history of China through its first episode of unification to offer an alternative perspective as to why China has reunified several times subsequently at a more or less comparable scale," said Feinman.

The study concludes that the globally unmatched tendency for China to be politically unified so repeatedly was in large part the consequence of social constructions; of a mixture of political ideals, institutional structures and relations, unified communication technologies, commerce networks, and collective traditions and memories negotiated and adopted during the Shang, Zhou, Qin, and Han eras.

Wealth and power may have played a stronger role than 'survival of the fittest'

Number of reproducing males declined during global growth

Arizona State University

IMAGE: 4 to 8,000 years ago, there was an extreme reduction in the number of males who reproduced, but not in the number females. Wealth and power may have played a... view more

Credit: Sabine Deviche

The DNA you inherit from your parents contributes to the physical make-up of your body -- whether you have blue eyes or brown, black hair or red, or are male or female. Your DNA can also influence whether you might develop certain diseases or disorders such as Crohn's Disease, cystic fibrosis, hemophilia or neurofibromatosis, to name a few.

In a study led by scientists from Arizona State University, the University of Cambridge, University of Tartu and Estonian Biocentre, and published March 13 in an online issue of the journal Genome Research, researchers discovered a dramatic decline in genetic diversity in male lineages four to eight thousand years ago -- likely the result of the accumulation of material wealth, while in contrast, female genetic diversity was on the rise. This male-specific decline occurred during the mid- to late-Neolithic period.

Melissa Wilson Sayres, a leading author and assistant professor with ASU's School of Life Sciences, said, "Instead of 'survival of the fittest' in biological sense, the accumulation of wealth and power may have increased the reproductive success of a limited number of 'socially fit' males and their sons."
It is widely recognized among scientists that a major bottleneck, or decrease in genetic diversity, occurred approximately 50 thousand years ago when a subset of humans left Africa and migrated across the rest of the world. Signatures of this bottleneck appear in most genes of non-African populations, whether they are inherited from both parents or, as confirmed in this study, only along the father's or mother's genetic lines.

"Most surprisingly to us, we detected another, male-specific, bottleneck during a period of global growth. The signal for this bottleneck dates to a time period four to eight thousand years ago, when humans in different parts of the world had become sedentary farmers," said senior author Toomas Kivisild from the Division of Biological Anthropology, University of Cambridge.

Researchers studied DNA samples taken from the saliva or blood of 456 males living in seven regions of five continents including Africa, the Andes, South-Asia, near East and Central Asia, Europe and Oceania. Scientists specifically studied the Y chromosome, which is passed down through the male lineage, and the mitochondria, which is passed to offspring by the genetic mother.

After using computer and statistical modeling, they found the two extreme "bottlenecks" in human genetic history, specifically the second found only in the male lineage.

The researchers said studying genetic history is important for understanding underlying levels of genetic variation. Having a high level of genetic diversity is beneficial to humans for several reasons. First, when the genes of individuals in a population vary greatly, the group has a greater chance of thriving and surviving -- particularly against disease. It may also reduce the likelihood of passing along unfavorable genetic traits, which can weaken a species over time.

According to Monika Karmin, a leading author from University of Tartu, Estonia, their findings may have implications related to human health.

"We know that some populations are predisposed to certain types of genetic disorders," said Karmin. "Global population evolution is important to consider, especially as it relates to medicine."

"When a doctor tries to provide a diagnosis when you are sick, you'll be asked about your environment, what's going on in your life, and your genetic history based on your family's health," added Wilson Sayres, who is also with ASU's Biodesign Institute. "If we want to understand human health on a global scale, we need to know our global genetic history; that is what we are studying here."

The researchers believe this will be relevant for informing patterns of genetic diversity across whole human populations, as well as informing their susceptibility to diseases.

Wilson Sayres said the next step is to continue the research by gathering a greater number of DNA samples, increasing the diversity of the samples, and working with anthropologists and sociologists to gain a broader perspective on the findings.