Archive for August, 2012

Ötzi Tells It All: On Recent Evolution And Migration

August 26, 2012 1 comment

The discovery that artery diseases were not confined to modern times, but even affected people in the Neolithic, may come as a relief to those tired of social retaliation. Some people are simply more vulnerable to artery diseases than others, and this vulnerability turned out to be ancient rather than the exclusive result of modern abuse. This discovery was the outcome of painstaking investigation on ‘Ötzi’, the famous 3300 BC ‘Iceman’ that dry-freezed and mummified in the mountains of Tirol.

Most surprising of all, perhaps, is that Ötzi carried a marker, or predisposition, for heart disease. And this is in spite of an active lifestyle and probably a healthy, balanced diet. Yet, clumps op calcium were found in the walls of his blood vessels, indicating artherial sclerosis. That is, his arteries looked like those of a forty something year old in the 21st century, not something we expected. This shows that these are not simply civilization diseases, due to bad diet and lack of excercise, but are genetically influenced conditions. (Thomas Tartaron, 2012)

The health state of Ötzi proves that artery diseases ocurred much earlier than previously thought to be possible for people living in conditions that supposedly approximated our natural state. This implies genetic protection against artery diseases is not the original condition. Health issues can’t always be ‘prevented’ by merciless excercises and diets beforehand, since apparently our shared genetic heritage is part of the blame. Built-in desire for sugars and fats leads to health in lean times but disease in times of plenty. However, the ‘invention’ of Neolithic food production, or the introduction of animal husbandry and crops, also supplied additions to ancient diets that may be regarded as the precursors of modern fatty food. Mere abundance must have caused evolutionary proven concepts to have turned against our contemporary genetic heritage. Instead, the current possibility of some to avoid artery diseases in the midst of plenty should be viewed upon as a potential example of modern adaptation.

Medical examination of Ötzi

A changed food pattern was only one of the Neolithic triggers for the rapid spread of genes that proved successful in the new environment. Some of these genes show recent allele modifications, such as those for Lactase Persistence (LP), that comes in several unrelated haplotypes that are each characterized by the presence of a strong selective sweep – the most common being defined by the T-13910 allele of the H98-haplotype. Actually, this particular LP haplotype supplies an impressive testimony of recent genetic change. While presently common in Europe and thought to be introduced in the Neolithic, LP was not reported on Ötzi. Indeed, in his time LP related selective processes must just have started since the very first traces of LP in Europe were dated only a little younger:

In this study, we have investigated lactase persistence of 26 out of 46 individuals from Late Neolithic through analysis of ancient South-West European DNA samples, obtained from two burials in the Basque Country originating from 5000 to 4500 YBP. This investigation revealed that these populations had an average frequency of lactase persistence of 27%, much lower than in the modern Basque population, which is compatible with the concept that Neolithic and post-Neolithic evolutionary pressures by cattle domestication and consumption of dairy products led to high lactase persistence in Southern European populations. (Plantinga et al., 2011)

Some other genes may have been around for much longer, only to receive their current advantage in a more ‘modern’ setting. One recent study suggests genetic differences of the (male-only) Y-chromosome may be of the latter category. Y-chromosomes are usually categorized into a system of haplogroups that each feature a characteristic signature of random markers, that thus convey deeper genetic differences:

Of nine haplogroups identified, two (R1b1b2 and I) accounted for roughly 90% of the Y chromosome variants among British men. Carriers of haplogroup I had about a 50% higher age-adjusted risk of coronary artery disease than did men with other Y chromosome lineages […]
The human Y chromosome is associated with risk of coronary artery disease in men of European ancestry, possibly through interactions of immunity and inflammation. (Charchar et al., 2012)

Already in 1974 Friedman and Rosenman concluded in their famous book Type A behavior and your health that men with Type A personality were at elevated risk for cardiovascular disease. Type A behavior is a stress-producing behavior, characterized by aggressiveness, perfectionism, unwillingness to relinquish control, and a sense of time urgency.

[…] men with Type A personalities were less well adapted to the pressures of the workplace than were their Type B collegues. (Barnett, 2002)

Anger and hostility is harmful to the heart, especially among men.

Environmental stress is always important for the interplay between selective forces and adaptation, and with Type A personalities this is not any different:

Specifically, Stoney and Engebretson and Siegman et al. have suggested that for men dominance and aggression interact to increase CHD risk, whereas aggression alone (especially indirect expression) is particularly toxic to women.
However, although the basis of Type A behavior can be found in personality and temperament, its expression is dependent on the unique context and environment of the individual. (Wrzesniewski et al., 2002)

The male-specific genetic component of Type A behavior should logically be found on the Y-chromosome, where cladistic genetic differences can be labeled easily using the ISOGG phylogeny of Y-chromosome haplogroups. Indeed, as could be expected from above favorable results on CHD for haplogroup R1b1b2, investigation on other haplogroup R-clade Y-chromosomes suggested a lower inclination to Type A behavior:

Studies show that personality dimensions such as aggression are influenced by genetic factors and that allelic variants located on the Y chromosome influence such behavior.
[…] comparisons allowed us to detect an association of the haplogroups R2 […] and R1a1 […] with lower self-reported aggression mean scores (Shoaib Shah et al, 2008)

Studies confirm that anger and aggression are significantly correlated with an increased risk of coronary heart disease (CHD):

The proportion of healthy population studies demonstrating a significant harmful effect of anger and hostility on CHD was 28.0% – Chida & Steptoe, 2009

In this context it may be relevant that two of Europe’s most controversal conquerors, Napoleon and Hitler, attested the same haplogroup E1b1b, rare in Western Europe. Napoleon’s clade could be refined to E-M34 or E1b1b1c1*, what in the current ISOGG phylogeny (2012) is equivalent to E1b1b1b2a1. Their abject disposition to dominance, nothing short of their abject glorification by some, may have had a Y-chromosome component, that in their specific cases may have been one of the culprits of their curious pathologies. Hitler once collapsed after a severe altercation in 1941, clutching his chest. Though no evidence of significant cardiovascular (or other) disease could be found, and normally attributed to Hitler’s hypochondriasis, this rather illustrates Type A personality as a cardiac risk all of its own.
Other deadly ailments are suspect of being related to Type A personalities, such as peptic ulcer. Stress has been demonstrated to cause the production of excess stomach acid, where the immune system is unable to clear subsequent infections of bacterial strains like H. pylori that thrive in an acidic environment. Much of Ötzi’s intestinal DNA belong not to him but to a bacterium associated with Lyme disease.

[…] all children and adolescents with Lyme disease and chronic abdominal pain had evidence of inflammation on biopsy in the stomach, duodenum, or colon. (Fried et al., 1996)

Hitler’s digestion problems prompted him to become a vegetarian. So far his stomach complaints, together with his fits of rage and purported cardiac lesion, have been unsuccessfully linked with syphilis. Full-blown peptic ulcer is thought to have run in the family of his Y-chromosome ‘relative’ Napoleon. Probably mistaken for cancer (the autopsy report of 1821 stated that Napoleon had a chronic stomach ulcer but died of a cancer of his stomach), the latter’s father and grandfather died of it too:

I believe that Napoleon had a chronic peptic ulcer and that gross haemorrhage from the ulcer and consequent circulatory collapse were the immediate cause of death.
This man, who had been full of burning energy and vitality found himself abruptly cut off from any outlet for his physical and mental powers. His health declined and he developed a chronic peptic ulcer of the stomach which perforated. (Murray, 1971)

Type A personality may have been the direct cause of Ötzi’s death in a quite different way. Reconstruction of Ötzi’s crime scene suggested he was murdered, probably by someone he knew. Preservation of red blood cells found in the right hand wound tissue and at the arrowhead entry wound on the Iceman’s back, and fibrin, an essential protein formed during the blood clotting process, strongly indicate his wounds were still fresh when he died. He couldn’t have run far from his assassins, and his costly copper axe would have been robbed if the murderer didn’t have a very good reason to not bring it back to his people as a trophee.
Would it be feasible to link differences in male behavior to genetic differences in the Y-chromosome? It has long been denied the Y-chromosome could be useful for anything else but basic male physiology. Like I already explained elsewhere on this blog, most hard-boiled practices to dismiss the Y-chromosome as junk DNA without any function doesn’t have any other base than ignorance, or lack of knowledge if this sounds any better. According to the comparative investigations of Hughes et al. evolutionary forces must have been at work on the Y-chromosome even after the split of chimps and humans. This year Hughes et al. came up with new evidence:

“The genes that are still on the human Y chromosome have been around for a long time, and that suggests they must actually be doing something useful,” said Jobling. Unfortunately, scientists don’t know what that is. “The Y chromosome has been neglected,” he said. (The Scientist, February 22, 2012)

From an evolutionary perspective, replacement of purported ‘genetic improvements’ is rarely straightforward and often prone to genetic drawbacks, coincidently inherent to the change. At the individual level of the human ‘organism’ type A personalities now appear to be ‘deleterious’ within the new, self-inflicted modern environment, and now tentatively associated with both identified Neolithic haplogroups (G2a and E1b) that were possibly subject to purifying selection, their decline may even be as old as the Neolithic itself. Indeed, systematic evidence of aggression is lacking in pre-Neolithic societies:

Recent finds in northern Syria […] suggest that violence flared as urban life first began to take hold between 4000 B.C.E. and 3200 B.C.E.
University of Cambridge archaeologists found three mass graves dating from about 3800 B.C.E. to 3600 B.C.E. at Tell Brak. The oldest and largest grave was at least 20 meters long and 4 meters wide, and included a jumbled pile of at least several hundred people—by far the earliest undisputed example of an event of mass violence. (Lawner, 2012)

Suddenly, due to cultural change, the aggressive expression of ancient genes thus turned catastrophic against survival.
If Type A personalities have a fully genetic cause, there must have been a time when their advantages outweighted the effect of possible deleterious circumstances. Now cultural conditions changed, one might wonder why their genes didn’t get extinct altogether. Or was selective Y-chromosome and mtDNA haplogroup decline over history rather an event-driven event? It is still possible that great turmoils in history were especially disadvantageous to the reproduction of certain personalties or metabolisms. What was the haplogroup of those especially prone to engage in wars and perish in ‘heroic’ acts? Their continued, almost disproportionate presence in the power-scene should make us wonder about the nature of Y-chromosome haplogroup survival. Deep human tragedy must have been involved in the process, but also personal successes and good, talented people that succumbed to the laws of nature.
Balanced selection on YDNA may have been an issue: Hitler, or Napoleon, or Stalin for that matter that like Ötzi was part of the G2a clade, could never have perpetrated their bloodshed if they weren’t facilitated by the contemporanous non-Hg E1b1b1 and non-G2a majorities of the powerful nations they usurped. Their rise to power had in common that it was hosted by nations that imported their dictators from genetic backwaters elsewhere, respectively Austria, Corsica and Georgia.
Balanced selection constitutes a useful mechanism to avoid irreversible genetic loss. Nature wasn’t always able to avoid the reduction of genetic variability during extreme circumstances, or ‘bottle necks,’ often considered a major cause of a species’ extinction. A certain optimal balance of ‘competing’ genetic modifications, for YDNA chromosomes each marked by defining haplogroup mutations, then guarantees the preservation of basal genetic variability. In this view, low frequencies of a certain haplogroup would represent equilibrium rather than imminent extinction. This may indeed be illustrated by individuals and lineages carrying Y-chromosomes E1b1b and G2a, that simply can’t be marginalized in European history in any way. For instance, the ‘Ötzi-type’ Y-chromosome of the executed French king Louis XVI, whose Y-chromosome represents the House of Bourbon and the ancient Capetian dynasty it’s a branch of, quite a notable lineage that has its earliest known ancestor in the Frankish count Robert of Hesbaye (770–807):

The uncommon mtDNA sequence retrieved can be attributed to a N1b haplotype, while the novel Y-chromosome haplotype belongs to haplogroup G2a. (Lalueza-Fox et al., 2011)

The purported ‘neutrality’ of the Y-chromosome as an unbiased migrational marker probably won’t stand further investigation on personality and coronary artery disease. Fatty and unhealthy diets that are commonly associated with the emergence of productive economy are likely to have triggered selective pressures beneficial to Y-chromosome Hg R, and deleterious to those carrying eg. marker Hg I. But it should be noted that culturally defined selective pressures are rarely universal. R1b-type Y-chromosomes attested for Egypt’s great 18th dynasty didn’t help R1b to become abundant anywhere in the Middle East. Bottom line is that Y-chromosomes marked by haplogroups G2a and E1b1b1, apparently became rare swiftly from one moment to the other – and all being rare is always very special, for better or worse. Culturally defined negative interaction (competition) that previously caused near extinction in a process of purifying selection, may thus also revert to positive interaction at any time. In other words, balanced selection may have provided favorable conditions for the survival of rare haplogroups that apparently prevailed in the past:

Y-chromosomal analyses permitted confirmation of the existence in Spain approximately 7,000 y ago of two haplogroups previously associated with the Neolithic transition: G2a and E1b1b1a1b. (Lacan et al. – 2011b)

Up to now the presence of most attested ancient Y-haplotypes in Europe tends to be explained by the Neolithic advance, and these G2a and E1b1b1a1b (E-V13, not particularly close related to Napoleon’s E-M34) samples of Avellaner Cave in Cogolls, Catalonia, Spain, are no exception. I am no longer convinced, and not just because this way only few current haplogroups remain for being attributed to pre-Neolithic populations:

Indeed, hg I is the only major lineage for which a Paleolithic origin is generally accepted, but it comprises only 18% of European Y chromosomes (Balaresque et al., 2010)

A growing body of evidence points at the importance of recent evolution, and rapid changes occurred in the human genome that can’t be explained by migration. In september John Hawks will present a conference paper at the meeting of the European Society of Human Evolution in Bordeaux, to reveal his own view on recent evolution, migration and Neandertal ancestry regarding the Tyrolean Iceman:

[Ötzi] has substantially greater sharing with Neandertals than any other recent person we have ever examined. (John Hawks, 2012-08-15)

It should be clear that Ötzi thus can’t be put away lightly as a representative of Neolithic immigrants in Europe at all! The context of this result was already defined years before by his party of investigators:

The processes leading to modernity involved the entire human species, and were based on the ethnogenic principle of communication and reticulation among populations. (Wolpoff et al., 2004)

At this point we might question the presumed homogeneity of pre-Neolithic DNA, or does Ötzi show us this is all a misconception? The short-lasting success of the attested Neolithic Y-chromosomes doesn’t make the preposition of pre-Neolithic homogeneity more viable. Mere gut feelings? Why not, this year it was found that intuitive logic isn’t necessarily a bad thing:

[…] despite the widespread bias and logical errors, people at least implicitly detect that their heuristic response conflicts with traditional normative considerations. I propose that this conflict sensitivity calls for the postulation of logical and probabilistic knowledge that is intuitive – and that is activated automatically when people engage in a reasoning task. (De Neys, 2012)

Simply put, intuitive logic allows humans to disagree with the limited array of available, or permitted, logical answers. Exploring new possibilities should be the next step. Now, what severe pre-Neolithic bottleneck, if any, could have caused the hypothetic reduction of Mesolithic and Paleolithic Y-chromosome survival and variability thus, that now all should group within a single Y-chromosome clade, marked by haplogroup I? The same applies to pre-Neolithic mtDNA, that turned out overwhelmingly of haplogroup U5. Autosomal DNA so far suggests Mesolithic populations predominantly survive in Northern Europe. Still, Ötzi didn’t have any of these ‘northern’ characteristics and neither was his DNA shifted to any eastern origin that would indicate descendency of Neolithic immigrants. Aren’t we really seeing true European ‘population substructure here? In which case we might also witness the contemporary ethnic expansion of northern Mesolithic populations.
Indeed, new insights suggest the Neolithic stage of human lifestyle was less ‘revolutionary’ than commonly assumed. A mosaic of ‘Neolithic’ achievements has been attested in pre-Neolithic societies all over the world, not all of which were accumulated by the first agriculturists, the most striking example being ceramics. While the Near Eastern origin of agriculture was characterized by an aceramic Neolithic stage, there were social contexts for ceramic figurative art in Europe since the Upper Palaeolithic:

A small number of Gravettian ceramics were discovered at Krems-Wachtberg in Austria. Krems-Wachtberg is widely accepted as culturally related to Pavlovian sites in Moravia […] 32,437-31,157 cal BP
Recent finds of 36 ceramic artifacts from the archaeological site of Vela Spila, Croatia, offer the first evidence of ceramic figurative art in late Upper Palaeolithic Europe, c. 17,500–15,000 years before present
Ceramic hearths found in late Aurignacian levels at Klisoura cave in Greece did not yield discernable ceramic “art,” but do suggest the emergence of a ceramic technology in the early Upper Palaeolithic. (Farbstein et al, 2012)

China was well ahead in the production of pottery long before the arrival of agriculture:

Here, we describe the dating of the early pottery from Xianrendong Cave, Jiangxi Province, China […] The radiocarbon ages of the archaeological contexts of the earliest sherds are 20,000 to 19,000 calendar years before the present, 2000 to 3000 years older than other pottery found in East Asia and elsewhere. The occupations in the cave demonstrate that pottery was produced by mobile foragers who hunted and gathered during the Late Glacial Maximum. These vessels may have served as cooking devices. The early date shows that pottery was first made and used 10 millennia or more before the emergence of agriculture. (Xiaohong Wu et al., 2012)

In Greece and probably Albania and Macedonia, there are some indications towards an aceramic neolithic economy that developed independently from the near east, and a subsequent continuous development through Protosesklo into the typical painted ware cultures of the Balkanic neolithic. In the periphery of this cultural core the Presesklo represented a less sophisticated pottery tradition that may suggest the existence of an even older Balcanic Neolithic that still awaits discovery (Lichardus), and probably played a role in the development of the Mediterranean Cardial tradition. The immigration of Asiatic agriculturists is far from clear, notwithstanding the long-standing practice of framing Neolithic groups in existing narratives without overall examination of their archaeological context, frequency, usage and meaning.
A plausible explanation of the ‘otherness’ of the earliest Neolithic groups may lie in the concept of ethnicity. Commonly referred to as ‘Neolithic’, both Cardial and LBK may actually represent the arrival of a new, very visible ethnic element. The local, less visible Mesolithic element didn’t necessarily disappear, in which case these gradually accepted more Neolithic attributes. A complicated convergence process started, that ultimately may only be disentangled by genetic investigation. Ötzi is just a testimony of the genetic situation in the Late Neolithic or early Bronze Age, and despite his extreme occidental DNA shift ethnically he is often taken for granted as ‘Neolithic’. However, those advocating a limited variability of Mesolihic mtDNA typically ignored early reports of Chandler et al. (2005) on a clear abundance of the quite modern-European mtDNA haplogroup H samples in Portugal, for years the only Atlantic site successfully explored for paleogenetic remains. Only this year we can celebrate the investigation of Hervella et al. (2012), that confirmed H6 for hunter gatherers in La Chora, and more mtDNA H in La Pasiega, two Paleolithic sites in Cantabria, northern Spain. At least the Atlantic rim thus emerges as an undeniable source of modern mtDNA. Instead, the Pitted Ware Culture (PWC) in the coastal areas of Southern and Eastern Middle Sweden, representing a local hunter-gatherer complex whose pottery style and general subsistence patterns bear the greatest similarities with groups East of the Baltic Sea, attested haplogroups U4 and V (Skoglund et al., 2012).

In general, Neolithic frequencies of ‘modern’ mtDNA haplogroup H are a triffle too low for assuming straightforward Neolithic continuity, and more so in central Europe, where Neolithic mtDNA is outright inconsistent with modern European populations. The majority of the European populations have an overall haplogroup H frequency of 40%–50%, while the highest Neolithic mtDNA H readings were ‘Atlantic’: 37% in Grenollers, Catalonia (Sampietro et al. 2007). Whatever the momentum that boosted modern mtDNA, it must have been part of the Neolithic decline. However, there is more about the purported extinction of Mesolithic populations that defies logic. Two successive reduction processes or hypothetized bottlenecks, the first linked to a central European, pre-Neolithic population decline, and the second linked to a late-Neolithic population decline – that ‘thus’ affected ‘Neolithized’ native populations as well – should have made it quite difficult for rare contemporaneous pre-Neolithic haplogroups to survive. So, what could have brought two rare paleogenetic hg F*(xG,H,I,J,K) among the Neolithic population of Derenburg, against just one proven G2a3 sample? It couldn’t be excluded this F* isn’t actually extinct IJ*, and thus ancestral to the ‘European’ haplogroup I. However, it is hard to believe that Mesolithic F* jumped over to Neolithic populations, only to become extinct afterwards both in Mesolithic and Neolithic populations. Indeed, YDNA F* is nowadays nearly extinct in Europe, and though rare in the Near East recently most of its F* has been identified as northern Iranian IJ* (Grugni et al., 2012). This should illustrate the difficulties involved in identifying any migrational origin of Y-chromosome haplogroups. On the other hand, G2a haplogroups survived almost all over – albeit in quite modest quantities. With or without the proposed Mesolithic extinction scenarios, it would thus be much more feasible to associate just Hg F* with the YDNA of Neolithic immigrants!
Would this result imply that no pre-Neolithic YDNA can be attested at all in the LBK sites? Actually, the assumption that G2a is a Neolithic marker was based on very flimsy grounds. Recent investigation by Rootsi et al. (2012) didn’t reveal any subclade substructure remotely similar to the European substructure of haplogroup R1b1b2. One exception is G2a3-L497 that ‘essentially occur in Europe where they likely originated’. Afghanistan’s low frequencies of G2a3 are of the same order as haplogroup I2b, presumed Mesolithic in Europe (Haber et al. – 2012), hardly an argument for any specific Asiatic origin at all. Moreover, already 7000 years ago ‘Neolithic’ YDNA G2a was suffiently regionalized in Europe to allow comparative analyses of diverging STR haplotypes for Avellaner cave, Cogolls, and other ancient Neolithic sequences. The first observation is one of decline:

Analysis of shared haplotypes showed that the G2a haplotype found in ancient specimens is rare in current populations: its frequency is less than 0.3% (Lacan et al. – 2011b)

This indeed corresponds to the present rarity in Europe of the Avellaner haplogroup G2a, and E1b for that matter, though a lack of correlation of Avellaner haplotypes with neighboring regions in western Europe, including France (Table S3, Lacan et al. 2011b), is equally striking, and appears to be in contradiction with migrational patterns.
The Neolithic G2a samples of Treilles, France, were recently found to be ‘clearly differentiated’ from the main continental branches of this group. However, assertions towards the ‘predicated’ Neolithic dichotomy, derived from the two migrational routes of Neolithic immigrants, attributed respectiveliy to the continental LBK agriculturists on one hand, and the Mediterranean advance of Neolithic culture on the other hand, rather appear wishful thinking than based on facts.

[…] we analyzed DNA extracted from 53 individuals buried in Cave I of Treilles located in the Grands Causses region, at Saint-Jean-et-Saint-Paul, Aveyron, France […]. The Treilles cultural group is a well identified archeological complex of the late Stone Age period, preserved of any major late Neolithic population movements as suggested by the absence of the Bell–Beaker culture influence in the second part of the third millennium B.C.
22 male individuals were confirmed to belong to the Y-haplogroup previously inferred. As expected from YSTR data, all samples were found to belong to Y-haplogroup G2a except samples 577 and 596, which belong to haplogroup I2a.
The Treilles G2a haplotypes are located at the periphery of the network in a particular branch […] on a Mediterranean branch clearly differentiated from the Caucasian G2a, in which G2a is currently the most frequent in Europe, as high as approximately 30% (Lacan et al. – 2011a)

However tempting to assume a ‘confirmation’ of Neolithic scenarios, we have to be careful and remind the apparent demise of Neolithic DNA that is in utter conflict with traditional assertions that still try to establish Neolithic immigrants as a founding element of the European gene pool. The investigators of Ötzi the Iceman express their concern about rushing (again) to stale explanations for G2a beforehand:

His closest living relatives lived in and near the Alpine regions of Europe, but some are in places like Sardinia and Turkey and elsewhere, sharing similar mutations. Now, this may have to do with various migrations, but we really need to be cautious, because the genetic histories of these people were not particularly well known, so there are lots of potential explanations for why this spread can be very large. (Thomas Tartaron, 2012)

Strictly spoken, there is no imperative archeological argument that predicates a Near Eastern ‘Neolithic’ origin of paleogenetic G2a type Y-chromosomes at all. Even LBK may have been rooted in the Mesolithic of Southeast Europe.

[…] LBK emerged in present western Hungary in the course of culture contact between a ‘yet unknown’ population of hunter-gatherers, the more southern Starveco-Koros-Cris (SKC) groups and later early Vinca.
[…] the general scenario of a regional origin of the LBK is still acceptable to most Central European researchers.
[…] most continent-based archaeologists have never considered any notable population expansions across the Balkanic-Central European border. Also, recent ancient mtDNA evidence certainly does not contradict the hypothesis of an emergence of the LBK within a local population in Transdanubia and/or south-west Slovakia, and the expansion from these territories towards the west and north-east (Gronenborn, 2007)

Similar results were obtained for the mtDNA of prehistoric Treilles, where investigators remain largely ignorant of in situ (older) haplogroups:

Analysis of the FST genetic distances based on HVI variation showed that the Treilles specimens were genetically close to all current European populations.
The study of shared lineages showed furthermore that the Treilles maternal lineages are found in all present-day European populations with percentages as high as nearly 18% (Lacan et al. – 2011a)

The latter may be merely the result of Neolithic reality to retrieve much of the female contribution to local resources, thus debunking the hypothesis of considerable mtDNA immigration anyway:

LBK societies were “patrilocal,” meaning that males tended to stay put in one place while females moved in from other areas to mate with them. (Bentley et al., 2012)

The median joining network of Y-G2a haplotypes for current western European populations (Fig. S5, Lacan et al. – 2011a supplement) only very loosely reflects the traditional Neolithic split in Continental and Mediterranean immigrants: Late Neolithic YDNA of haplogroup G2a in Treilles correlates only partly with current Spanish haplotypes in comparison with North Western and North Central European G2a, while the other part of Spanish G2a has an even more ambiguous correlation with northern haplotypes. Central Mediterranean and South Eastern European haplotypes dominate the central topology of this network, as indeed could be expected for an eastern mediterranean origin of G2a, though from there on all points to a more complicated pattern of genetic exchange and regional variety than anticipated for in a Neolithic context by archeology. At least this doesn’t give the impression of Neolithic YDNA having remained very isolated in regional branches, after their purported advance over separated routes east to west while expanding from a common Neolithic source ‘somewhere east’.
The mere prehistoric omnipresence of G2a-type Y-chromosomes could pose another problem to the concept of a simple, two fold origin in the Neolithic wave of advance:

We generated genetic distance maps to visualize the similarity/distance of the LBK and Derenburg populations
[…] modern-day Turkey, Armenia, Iraq, and Iran demonstrated a clear genetic similarity with the LBK population (Haak et al., 2010)

Unlike R1b, there are no claims for an all-encompassing wave-of-advance substructure of European G2a, nor ready-made mathematic growth and decline scenarios off-the-shelf. Attempts to describe the advance of G2a in the northern branch of the Neolithic advance in terms of a gradual genetic distance as a function of distance, fail to reveal unambiguous subclade differentiation that could be attributed to the Neolithic advance. In a Neolithic scenario, such a lack of subclade substructure in Europe’s YDNA haplogroup G2a distribution may only be explained by massive and intense Neolithic replacement. However, this is not reflected by the latest FST diagrams for autosomal DNA (Keller, Skoglund – 2012), where all modern Western and Central European samples are still in the range between Ötzi and Scandinavian hunter gatherers rather than clustered around near eastern groupings: for modern samples the eastern tilt is almost negligible, while the modern autosomal spectrum tilted considerably to the north in southern and central Europe. Ötzi thus was far from being an immigrant from the east, and from a period that rather preceded considerable admixtures from northern Europe!
LBK skeletons of Derenburg proved to be G2a3 (downstream SNP S126, Haak et al. 2010), while Ötzi’s YDNA groups within haplogroup G2a2 (previously G2a4 in ISOGG 2011), being defined by SNP L91 (Keller et al. 2012, Supplementary Table S7).

We addressed this issue here by analysing the G2a4-defining L91 SNP in 7,797 chromosomes from 30 regions across Europe. Fig. 3d shows the spatial frequency distribution of G2a4 throughout Europe. The highest frequencies (25 and 9%) occur in southern Corsica and northern Sardinia, respectively, (Fig. 3e) while in mainland Europe the frequencies do not reach 1%. (Keller et al. – 2011)

Keller’s percentages doesn’t correct for the unequal distribution of G2a in current populations. Actually, substructure becomes less obvious in more detail. The Treilles G2a population appears to be genetically independent from Central European LBK G2a, though a closer relationship with some of NW European’s rare G2a, and even part of North-Central European G2a, can be discerned. Such overlap already happens in paleogenetic samples. Efforts to group close G2a relatives to Derenburg’s Neolithic LBK fossils in a geographically congruent ‘continental group’ may be corroborated by the Frankish YDNA of Robert of Hesbaye and his royal descendents, and probably also by one of the 7th century AD Frankish skeletons (244F) found in Ergolding, Bavaria. The other Ergolding skeleton, however, groups with Ötzi’s G2a2, that encompasses all men with a double DYS19:

We also observed that sample 244E had previously very rarely observed duplication in the locus DYS19 (alleles 14 and 15). As the same results of independent extractions and PCRs were obtained, we concluded that this finding might be related to the duplicated region of the Y chromosome that is highly homologous with the DYS19 flanking region. Balaresque reported that DYS19 duplications were mainly found in Y-haplogroups G and C3c and this finding is in a perfect accordance with the haplogroup predicted for sample 244E (G2a). (Vanek et al., 2009)

Indeed, early mediterranean contacts up north can’t be excluded and even may have preceded the arrival of LBK in the western Loess in the mysterious pottery culture of La Hoguette. Problematic remains the mere scale of how all main G2a subclades violate the purported Neolithic north-south diachtomy in Europe.

Most of Treilles shared the G2a Y-chromosome haplogroup with Ötzi the Iceman and much of LBK Derenburg: apparently G2a was quite ‘universal’ at the time. But, all replacement scenarios unwittingly presume an extremely high degree of pre-Neolithic Y-chromosome homogeneity in Europe, while actually the opposite may have happened: R1 (ie. R1b and R1a) that ultimately drove a multitude of prehistoric YDNA to (near) extinction. This also includes the ‘Sardinian’ haplogroup I2a1, defined by mutation M26, that was found in Neolithic Treilles next to G2a (two out of 22 samples: tableau 8, Lacan 2011), or ‘stand-alone’ as far north as Yermenonville, in Dolmen de la Pierre Fritte, Eure-et-Loir (two out of two samples: tableau 13, Lacan 2011): though generally considered pre-Neolithic, this haplogroup seems to have shared the post-Neolithic demise of YDNA G2a in an almost identical way.

The Avellaner Cave paleogenetic results came out just a few month since Busby et al. shook the genealogic world by asserting most dating assumptions (on Y-chromosomes haplogroup R1b) where erroneously based on unlimited mutational linearity. Haplogroup G2a Y-chromosomes never enjoyed the same popularity among investigators as R1b to produce the same dating shock, still G2a subclades previously considered closely related also attested much older than thought. The gradual shift of facts and scientific opinion towards an older history of some of the world’s main YDNA markers implies an increased role for selective processes, much of which happened the last few thousand years. For the time being it would be wise to be wary of any self-proclaimed expertise on Y-chromosome SNP dating. Ill-fated migrationist fora and blogs on the internet often found themselves obliged either to reconsider their doctrines and corresponding records of intimidation, or to shut down altogether as eg. dna-forums indeed did. Now easy replacement models are increasingly falsified, the current wide spread of Y-DNA haplogroups may rather be held for a long history of intense hybridization. This urges for the need to reconsider rather long-term continuity models, and the remapping of migrational processes to include much earlier distribution events.

The pattern of post-Neolithic extinction revealed by haplogroups G2a and E1b must have been a shared phenomenon all over Europe. Sampling bias may have been an issue, since the discrepancy of Neolithic YDNA in current populations regarding the Neolithic samples of Treilles, Avellaner Cave, and Ötzi, ie. in the Grands Causses region of southern France, Catalonia and the central Alpine region respectively, were all retrieved in regions where the apparent decline of G2a wasn’t as catastrophic as elsewhere. Northern Neolithic populations west of the Carpathian Basin suffered a more unambiguous decline from Derenburg (Germany) to the fertile Loess plains as far as Belgium, where G2a chromosomes currently hit a modest regional maximum as low as 3.8% of the male population (Brabant project). However, the archeologic invisibility of Mesolithic cultures in the neighborhood is increasingly regarded an important and inpredictable issue. Ethnic competition and migration appears to have been decisive in great European post-Neolithic hybridization processes. Important FST shifts towards a much more northern genetic component can be recognized when current populations in Central Europe/Northern Italy are compared to Ötzi’s. Naturally, mesolithic intervention could also be inferred from the demise of the attested ‘Neolithic’ YDNA haplogroups, especially in the regions once inhabited by populations of the northern Neolithic pole. Instead, Balaresque thought to recognize Late-Neolithic diffusion of northern (LBK) cultures in the massive replacement of YDNA towards haplogroup R1b, as far south as the mediterranean.

Principal component analysis (PCA) of the Iceman genome. Note the lack of any tendency to group with eastern or northern populations.

Ötzi may serve here as an excellent reference to find out to what extend and how fast the human mixing processes have been at work during the last 5,000 years. Regional differences must have been a few orders of magnitude higher than nowadays, now the genome of Ötzi emerges as an outlier to all filter settings of the Principal Component analyses of Keller et al. (2012), even beyond the vicinity of Sardinian samples, European outliers all by themselves. If the European average of Neanderthal admixture in excess to an unknown African average is 3.5 percent, Ötzi would have around 5.5 percent (Hawks). Genetic shifts since Ötzi are thus that genetic components currently found in the modern populations of Ötzi’s Central European origin location feature an enormous shift into the direction of northern Europe. Indeed, as an alternative to senseless assertions towards the extinction “without issue” of Ötzi type genome components, genetic admixture and recombination has all appearance to have caused the current populations of central Europe and even SW Europe and much of southern Europe to have shifted towards an intermediate position between northern Europe and Ötzi. The impact of such shifts to our current poor understanding of migration patterns may be illustrated by the almost contemporary TRB remains of Gokhem, Sweden, that Skoglund et al. (2012) depicted in several graphs (fig. 1A, 1C, supplements S6, S8, S9) to nowadays cluster together with, or close to current North Italians.

The Neolithic farmer sample (‘Gok4’) was excavated from a megalithic burial structure in Gokhem parish, Sweden, and has been directly 14C-dated to 4,921 ± 50 calibrated years BP (calBP), similar to the age (5,100-4,900 calBP) of the majority of other finds in the area (15). There were no indications from the burial context suggesting that Gok4 was different from other TRB individuals, and strontium isotope analyses indicate that Gok4 was born less than 100 km from the megalithic structure, similar to all other analyzed TRB individuals from the area (Skoglund et al., 2012)

Even though definitely ‘northern’, the three Neolithic hunter gatherers of Scandinavia appear largely outside the distribution of modern Europeans. The TRB megalithic Gokhem sample, however, appears between current populations in Central and Southern Europe. Because the south experienced a considerable genetic shift to the north since Ötzi, the origin of the almost contemporaneous Gokhem sample could be corrected for north of the Alps.

Indeed, current efforts to reconstruct past populations as combinations of present populations are falsified by the enormous genetic shifts revealed by Ötzi’s ancient genome. Skoglund’s three genomes of Scandinavian hunter gatherers show a similar, though much less pronounced shift to the north:

the three Neolithic hunter gatherers appeared largely outside the distribution of the modern sample, but in the vicinity of Finnish and northern European individuals (Fig. 1A). (Skoglund et al., 2012)

Even though Skoglund’s Scandinavian samples were neighbors, some are almost as different from each other as the most distant current European populations are nowadays. This was especially true for the Gokhem TRB sample, whose aDNA suggests a contemporary geographic origin in between the Alpine realm of Ötzi and Scandinavia. Currently, central and southern European populations are attested ‘intermediate’ between Ötzi and Skoglund’s Scandinavian hunter-gatherer samples, so based on current samples a purported central or even south European origin of the Gokhem TRB sample is bound to be deceiving. Thanks to Ötzi, this paradox may be interpreted as indicative to prehistoric diversity and the increased integration of European populations in more recent times. Assuming geographic population differences were indeed more pronounced 5,000 years ago, simple interpolation between Alpine Ötzi and Scandinavian hunter-gatherer samples would probably locate the origin of the TRB Gokham sample somewhere on the North European Plain. As expected, for this being also the archeological homeland of TRB. Even the ‘Neolithic’ mtDNA H of the TRB sample of Gokham, though ‘intrusive’ in Scandinavia, doesn’t attest a non-European origin based on this autosomal result! Instead, the mtDNA H attested for this Gokham sample may rather refine its origin further to the Atlantic side of continental TRB territory.
Is this the end of all hopes for a genetic confirmation of an overwhelming Neolithic ‘wave of advance’, that should have rushed through Europe as a wave front along a SE-NW axis? The full impact of the apparent global attenuation of prehistoric physical differences is beyond the scope of this article. However, a slight eastern tilt towards SE Europe of the Gokham sample as compared to Ötzi and native Scandinavian samples, indeed noted by Skoglund (2012), can also be recognized in the current populations of Northern and SW Europe. Even though Skoglund failed to pursue this trail further east as far as Turkey (that currently appears quite isolated from Europe on his graph), this eastern tilt, albeit weak and less certain of Neolithic origin, can’t be denied. However, comparing the shifts of modern European populations with ancient European samples and available data from the Near East, this eastern tilt hardly emerges as excessive, but rather fits within the framework of post-Neolithic long-range genetic integration. We are badly in need of paleogenetic samples from the Near East to appriciate the historic impact of west-east integration, and only inmutable eastern samples would be a valid indication of current speculations. Eastern paleogenetic samples shifted away from the European side would potentially quantify the influence of a western component in current eastern populations instead. Equally interesting would be a considerable shift of older samples in the Near East to the European side, though, for discovering a possible shared origin of certain modern anatomical changes from a source external both to Europe and the Near East. As for now, if anything, the overall genetic shift to be perceived in Europe appears to be dominated by the northern component.

More plausible than any Neolithic overkill of new “immigrant” eastern genes may have been a new way of life, sowing the seeds for the success of ‘other’ genes, whatever their history or where they came from. YDNA genes marked by the known R1 haplogroups may have been among them, in this view thus being subject to selective processes that should not be mistaken for a true pattern of Neolithic advance.

Our interpretation of the history of hg R1b1b2 now makes Europe a prime example of how expansion of a Y-chromosomal lineage tends to accompany technological and cultural change. (Balaresque et al., 2010)

The view of an uninterrupted Neolithic advance sweeping away all traces of previous populations hardly find support among archeologists anymore, and haplogroup R1 Y-chromosomes, including the poor interpretation of their clear West-East dichotomy, for R1b (M412) as much as R1a (Z93/Z283), remain too much of a mystery for any migrational conclusion. So far parsimony suggests an initially thin dispersal of Hg R over a wider area and a subsequent period of growth.

[…] more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere. (Myres et al. – 2010)

None has been found yet in danubian contexts, so any Neolithic involvement in the spread of ‘occidental’ R1b should be sought somewhere else: a new element caught halfway the wave of expanding Neolithic culture, or maybe another group of Neolithic migrant that remain unidentified. Ancient DNA analyses of human remains from the Late Neolithic Bell Beaker site of Kromsdorf, Germany, resulted in the oldest testimony of R1b Y-chromosomes. Also contemporaneous R1a showed up in the neighborhood (Eulau), what may be an indication of the importance of late-Neolithic unifying processes invoked by mesolithizing populations in the area.

Defining the genetic variation of human populations during the Late Neolithic (2,800–2,000 cal BC) is of particular interest, as this period is characterized by dramatic changes within the prehistoric cultural and social landscape of central Europe from a highly varied one to one dominated by two distinct, coexisting, agricultural groups—the Bell Beaker (Glockenbecher) and Corded Ware (Schnurkeramik) cultures (Lee et al., 2012)

If migrational at all, R1 may have spread initially in Paleolithic or Mesolithic rather than Neolithic events. I guess the most likely scenario that also involve the Neolithic should be congruent to the regression of ‘danubian’ Neolithic regions to ‘mesolithised’ Chasséen/Michelsberg cultures at the western frontiers of Neolithic LBK. The ultimate result being any distinct Neolithic ethnic component to be washed out by what could now tentatively be perceived as a distinct northern Mesolithic ethnicity.

Unfortunately, this issue of European descend and continuity appears haunted by political assertions and ideology. Those hammering on the Mesolithic hegemony of mtDNA U haplotypes, allegedly not representative to modern Europe, appear unwilling to consider the ethnic status of the Mesolithic samples. Even Mallory’s straw man of a Mesolithic broader homeland for Indo European languages implicily attributed a distinguished Mesolithic ethnicity to the plains of Northern and Eastern Europe. This concept leaves the pre-Neolithic ethnical status of the Atlantic rim, the Balkan, the Alps and the Mediterranean and possibly even Scandinavia and the Baltic area, unresolved. However, Mallory’s perception of such an enormous Mesolithic homeland is a sham, being exclusively designed to be shattered in favor of Kurganist views on violent macho horsemen from the east. Received as a ‘better’ alternative than older Eurocentrist views, already heavily abused by Nazi ideology, mainstream thought could finally move away from archeological evidence and content itself with a non-occidental Indo European origin skeleton, even though destined to remain without flesh for decades. Mesolithic Europe is still largely invisible to modern archeology and largely contemporaneous to early Neolithic societies. The shear size of such a broader Mesolithic homeland, that Mallory posited between the Volga and Rhine, apparently presented an argument sufficient to burn the straw man to ashes, but actually the main objection against a broader Mesolithic homeland was it didn’t supply a better migrational mechanism to expand to the southern ancient Indo European territories than his kurgan alternative did. At least the kurgan cultures of the east could already be attributed an origin delimited by comprehensive boundaries like those of the Sredny Stog culture in the Volga area. Strange enough Mallory took care to remain vague about the western limits of this Mesolithic empire, at least ancestral to TRB and Corded Ware cultures, and refused to decently consider an early ‘Atlantic’ penetration of Indo European languages, purportedly linked with the development of Western European (and mediterranean!) Bell Beaker cultures. Still, Dutch representatives of this culture were by then already linked with the Corded Ware complex by Lanting (1976), and this link has been confirmed for the earliest Iberian finds (Rojo-Guerra, 2006). Only now paleogenetic results are able to reveal Mesolithic penetration of an ethnic element well outside the hypothetised broader northern homelands:

[…] two exceptionally well-preserved 7,000-year-old Mesolithic individuals from La Braña-Arintero site in León (Northwestern Spain) revealed the time span and also the vast geographic area involved, could be enlarged now with these two new haplotypes from the Iberian Peninsula.
The mitochondria of both individuals are assigned to U5b2c1, a haplotype common among the small number of other previously studied Mesolithic individuals from Northern and Central Europe. This suggests a remarkable genetic uniformity and little phylogeographic structure over a large geographic area of the pre-Neolithic populations. (Sánchez-Quinto et al., 2012)

This ‘remarkable genetic uniformity’ has all appearance to have a northern origin:

[…] analyses of 1.34% and 0.53% of their nuclear genomes, containing about 50,000 and 20,000 ancestry informative SNPs, respectively, show that these two Mesolithic individuals are not related to current populations from either the Iberian Peninsula or Southern Europe.
when compared exclusively to European populations, La Braña 1 and 2 fall closer to Northern European populations such as CEU and Great Britons than Southern European groups such as Iberians or Tuscans (Sánchez-Quinto et al., 2012)

For sure, even Mallory should have considered Mesolithic expansion a viable, even essential condition for the Mesolithic hypothesis. Somehow the Mesolithic world of Europe emerges as a unity in the periphery of Central European Neolithic culture, and the current data suggests early agriculturalists harbored hunter-gatherer U-lineages (Lee et al., 2012). Now expansion of a distinctive northern Mesolithic culture can indeed be linked with mtDNA U5 haplogroups, the exclusive eastern origin of Indo European languages may even be questioned within the Mesolithic hypothesis:

Previous studies of ancient mtDNA have shown that U5 haplotypes were common among Mesolithic Europeans, especially in Central and Eastern parts of Europe. For instance, a high incidence of U5 haplotypes (about 65%) has been detected in hunter-gatherer individuals from various sites across central and Eastern Europe. U5b haplotypes have also been reportedly recovered from Mesolithic skeletons found in Aizpea in Navarra, Spain (dated to about 6,600 years before present) and Reuland-Loschbour in Luxembourg (dated to about 6,000 years BC), as well as from the skeleton known as “Cheddar Man” that was found in Gough’s Cave, England (Sánchez-Quinto et al., 2012)

Ötzi already had a bronze axe before northern admixtures took effect in Southern and Central Europe. Probably of Remedello manufacture, the haft betrays mesolithic influences.

The transition to Indo-European culture is nowadays often related to some profound post-Neolithic genetic changes. In Özi any idealized ‘Indo-European’ or ‘northern’ element remains elusive, not in the least because of his short stature, lack of dolichocephaly, his dark eyes and G2a Y-chromosomes, none of which were particularly associated with the modern myth of Indo European ‘riders’. Northern admixture in Southern and Central Europe appears to have taken effect only in the Bronze Age since these didn’t affect the genome of Ötzi at all, even though he already had a bronze axe in the Late Neolithic. Wear patterns suggested the axe was basically used for cutting wood. Mesolithic populations similar to La Braña may have coexisted all over Europe together with more conservative local Ötzi-like populations in a patchy distribution, what may offer an explanation why Ötzi – compared to all current European populations – didn’t show a northern shift in his genome ‘yet’. His genome was extremely ‘southern’, while some of his neighbors were probably not. Indeed, Ötzi’s bronze axe was a valuable commodity of Remedello manufacture, and fixed on the shaft with mesolithic technology. If any population expansion could be deduced on the popularity of a hafted tool, then Ötzi must have been just on the receiving end. Mesolithising tendencies had their effect over a wider region and were represented by a chain of neighboring late-Neolithic cultures, often associated with the local introduction of megalith monuments – unknown in the danubian Neolithic of western Europe (Mordant, 2000) – and other peculiarities like graves for dogs and hafted tools.

in the Middle Neolithic Chasséen and Michelsberg, as woodworking increases and diversifies, a real variety of hafted instruments appears (Legrand & Sidéra – 2007)

Chasséen influence can’t be denied to have penetrated deep into Cardial territory, including the Catalonian group of megalithism. The Grands Caussus region, where the Treilles culture flourished, was probably less affected due to isolation by dense forests. Traditionally seen as an extension of the Neolithic advance and loosely associated with earlier LBK influences spilling across the Rhine into the Paris Basin, it is nowadays often considered more appropriate to interpret Chasséen culture as a rather mesolithised culture that owe much of its characteristics to the acceptance of, or reversal to, or continuation of an ‘extended broad spectrum economy’ and the corresponding survival techniques of an older Mesolithic population.
Though of a later age, Ötzi’s copper axe derived from this same tradition. It was hafted and indeed, the shape suggested an origin in the Remedello culture of the Po plain, whose first phase dates 3400-2800 calBC. This culture was mentioned by Mallory as one of the three major Eneolithic/Early Bronze Age cultures of Italy that could be explained by intrusions, the two others being Rinaldone and Gaudo:

It has long been argued that these three cultures were the result of an invasion(s) of a warrior aristocracy which introduced metallurgy, a new burial rite, and new ceramics, as well as marked change in the earlier social system.
[…] Rinaldone graves offer typically Indo-European evidence such as horse remains and an abundance of copper objects including daggers, axes, awls and a halberd. To the north, in the Po Valley, was the Remedello culture with its large cementery where metal daggers, halberds, axes and awls accompanied burials. (Mallory, 1989)

Mallory could perceive some very long-distance parallels in these cultures, even Indian. While this should rather confirm the international nature of Europe’s ongoing mesolithisation processes, his real intention rather appears to look away from western Europe – ‘almost’ in the vein of Churchill’s proclamation that “History is written by the victors”, and dismissive of Continental views:

Research by British and American scholars on the transition of farming in Central Europe has resulted in a number of models which have been viewed with continuous scepticism in Central Europe. Contrary to the often generalised Anglo-American approaches, particularistic traditions, based methodologically and theoretically on culture history and environmental archeology, have continued, notably in the German-speaking countries but also in France. These have been substantiated by an ever increasing body of meticulously collected detailed data. (Gronenborn, 2007)

On a side note, Gronenborn’s quoting of Dutch research – bridging Bell Beaker and Corded ware and sustaining their shared background in Swifterbant culture – may suggest German archeology still depreciates the distinction between Germany and the Low Countries as much as the Anglo-American world. Now, French researchers perceive plenty of transalpine influences for all stages of peri- and cis-Alpine archeological horizons. Lagozza culture (Northern Italy, 3100-2200 cal.BC) and Cortaillod culture (Swiss, 3600-2600 cal.BC) are subgroups of Chasséen culture, and Remedello culture was another expression of transalpine contacts:

Engraved figures on a limestone rock wall have recently been identified in the French Alpine foothills (Chastel-Arnaud, Drôme, France).
Concerning the daggers, first comparisons recall the Remedello cuture, in North Italy, traces of which are exceptional in the French Alps.
Through this debate, the authors’ wish has been to consider the engraved rocks of Les Auberts as part of a profound dynamism established in time, which is for us a better theory than the hypothesis of copper prospectors arriving from Italy. (Morin et al. – 2005)

Migrational replacement scenarios experience a hard time ever since archaic hominin admixtures were detected on a regional level in modern humans. Our view of evolutionary forces acting on our genome has now utterly changed. The focus has shifted to admixture due to recurrent range expansions, followed by internal genetic processes:

[…] large levels of introgression expected after a range expansion with interbreeding argue against a complete replacement of the European Palaeolithic people by Neolithic populations expanding from the Middle East
Once population densities increase in the range core, selection can become stronger than drift: purifying and background selection can progressively operate. (Alves et al., 2012)

Likewise, Chandler’s 2005 article, covering Mesolithic as well as Neolithic populations, revealed the Neolithic genes as regional rather than immigrant. Only nowadays, with popular replacement scenarios failing ever more dramatically, even stale mainstream brainlocks are opening up to different scenarios:

One integrationist scenario is therefore migration by agriculturalists, but agriculturalists who carried largely “Mesolithic” genes from elsewhere in Europe.
DNA from the two populations differs, although neither carry the Near Eastern lineage implicated in carrying agriculture into Europe (Chandler, Sykes, and Zilhao 2005). This is consistent with Cardial immigration involving farmers of indigenous Mesolithic ancestry (cf. the “integrationist” model suggested above). Rowley-Conwy – 2011

Not all celebrated genetists share the renewed appreciation of Europe’s deep genetic testimony. Svante Paabo, whose technical skills are still wanted at all kinds of genetic investigation, already proved intellectually unable to recognize continuity before in his undue evaluation of genetic material DNA from Neanderthal remains. His extinction doctrines were abundantly quoted in the media until recently, but now his battle turned against their Mesolithic descendents. Even this year his party (Fu et al.) tried to resucitate Mesolithic extinction scenarios in favor of Neolithic expansion, typically focussing on the genetic structure of an isolated Baltic Mesolithic against the ‘Neolithic’ rest of Europe that also has mtDNA H in their mix. They sought to deny paleogenetic results that revealed mtDNA H as Mesolithic and wrongfully asserted a ‘complete absence in pre-Neolithic huntergatherers’, though one quote is interesting for those appreciating the period of post-Neolithic, Mesolithic resilience:

[…] H-type mtDNAs experienced a recent population expansion while U-type mtDNAs experienced a much older population expansion. (Fu et al. – 2012)

Meanwhile, more mitochondrial DNA groupings are getting detached from an exclusive Neolithic association:

[…] a substantial, perhaps predominant, signal from mitochondrial haplogroups J and T, previously thought to have spread primarily from the Near East into Europe with the Neolithic population, may in fact reflect dispersals during the Late Glacial period, ~19–12 thousand years (ka) ago. (Pala et al., 2012)

The same could be said of mtDNA K, also carried by Otzi:

haplogroups K and T have been observed in LBK groups across central Europe, Neolithic hunter-gatherers in Scandinavia, and at Granollers, Spain (c. 3,500 – 3,000 BC) […], suggesting that these maternal lineages were widespread and common across the European continent in the past and present (Lee et al., 2012)

Regarding YDNA, haplogroup E-V13 Y-chromosomes are now sufficiently substantiated by paleogenetic samples and the archeological record to discourage further speculation on fresh arrivals, as has been fashionable until very recently due to ridiculous low haplogroup dating. The Avellaner Cave haplogroup E-V13 Y-chromosome sample, having an archeological age of 7,000 year ago, completely shattered all previous designs that departed from much more recent dates. Cruciani, et al. (2007) were still serious about an ‘estimated coalescence age of about 4.5 ky for haplogroups E-V13 and J-M12 in Europe’ what would thus ‘exclude a demographic expansion associated with the introduction of agriculture from Anatolia and would place this event at the beginning of the Balkan Bronze Age, a period that saw strong demographic changes as clearly testified from archeological records.’
Instead, having a much more ancient date now attested by paleogenetic samples, E-V13 rather appears to have been washed away by those same post-Neolithic events. Since both E-V13 and J2b (J-M12) are nowadays predominantly found in the Balkans, the prospect of any important post-Neolithic Balkanic expansion is getting very precarious, however painful for those consistently bent on linking Y-chromosome evidence to historic Greek events. This view was definitely finished off by genetic results in Afghanistan:

The E1b1b1-M35 lineages in some Pakistani Pashtun were previously traced to a Greek origin brought by Alexander’s invasions. However, RM network of E1b1b1-M35 found that Afghanistan’s lineages are correlated with Middle Easterners and Iranians but not with populations from the Balkans. (Haber et al. – 2012)

However, all this doesn’t imply that E-V13 can now safely considered Neolithic. Nor Hg J2b for that matter, that at least in India was rather associated with pre-Neolithic culture:

HG J2b2-M241–related microsatellite variance is higher in Uttar Pradesh near the border of Nepal. It should be noted that numerous Mesolithic sites have been observed in this region (Sengupta et al. – 2006)

The attested severe underestimation of age for E-V13 may be just the tip of the iceberg: much older events are involved:

The subdivision of E-M78 in the six common major clades revealed a pronounced geographic structuring […]: Haplogroup E-V65 and the paragroups E-M78* and E-V12* were observed mainly in northern Africa, haplogroup E-V13 was found at high frequencies in Europe, and haplogroup E-V32 was observed at high frequencies only in eastern Africa. The only haplogroup showing a wide geographic distribution was E-V22, relatively common not only in northeastern and eastern Africa but also found in Europe and western Asia, up to southern Asia
Northeastern Africa thus seems to be the place from where E-M78 chromosomes started to disperse to other African regions and outside Africa. (Cruciani et al. – 2007)

Indeed, genetic and linguistic evidence of Sub-Saharan influences abound in Europe, and the ‘temporality’ of these influences shouldn’t be an issue:

[…] it is no surprise that all modern European groups, ranging all of the way from Scandinavia to eastern Europe and throughout the Mediterranean to the Middle East, show that they are closely related to each other. The surprise is that the Neolithic peoples of Europe and their Bronze Age successors are not closely related to the modern inhabitants, although the prehistoric modern ties are somewhat more apparent in southern Europe. It is a further surprise that the Epipalaeolithic Natufian of Israel from whom the Neolithic realm was assumed to arise has a clear link to Sub-Saharan Africa. (Brace et al. – 2005)

Neolithic sub-Saharan influence, one likely ultimate source for European haplogroup E YDNA, may have reached much further:

If the Late Pleistocene Natufian sample from Israel is the source from which that Neolithic spread was derived, then there was clearly a Sub-Saharan African element present of almost equal importance as the Late Prehistoric Eurasian element. At the same time, the failure of the Neolithic and Bronze Age samples in central and northern Europe to tie to the modern inhabitants supports the suggestion that, while a farming mode of subsistence was spread westward and also north to Crimea and east to Mongolia by actual movement of communities of farmers, the indigenous foragers in each of those areas ultimately absorbed both the agricultural subsistence strategy and also the people who had brought it. The interbreeding of the incoming Neolithic people with the in situ foragers diluted the Sub-Saharan traces that may have come with the Neolithic spread so that no discoverable element of that remained. (Brace et al. – 2005)

However, one might question whether this Sub-Saharan expansion didn’t have its roots in much earlier Upper Paleolithic events, as corraborated by the geographic subdivision of E-M78 that apparently was already in place much earlier than previously thought. The first indication of Sub-Saharan influences in the Mediterranean already appear in the Mid Upper Paleolithic ‘double burial’ of the Grotta dei Fanciulli (‘Grimaldi Cave’, Balzi Rossi (the Red Cliff) near Ventimiglia in Italy): ‘where dates are available these cluster between ~25,000 and 22,000 BP’ (Pettitt, 2010). Their purported ‘negroid’ physiology should be an interesting indication of increased cultural contacts already long before the onset of the Neolithic, and may even set a new upper limit to the regional presence of African populations, whose possible long-distance and early northeastern African origin may also be corroborated by the current geographic differentiation of E-M78 Y-chromosomes. Even paleolithic genetic homogeneity has all the appearance of a myth. Strange enough, the cultural impact of these pre-Neolithic arrivals can’t be clearly distinguished from native ‘Cro-Magnon’ practices already in place:

An adult male seems to have been buried in the Grotta dei Fanciulli, although no report of a grave cutting exists […]. This was found stratigraphically higher than the famous double burial. This contains an adolescent, probably male, and a female adult, who seem to have been places in the grave sequentially. The excavators noticed that the original grave had contained the adolescent laid carefully on his side, but that the distribution of perforated marine shells that formed part of the decoration of his head gear dispersed around the surrounding soil indicated that the grave had been subsequently opened and the female’s body placed within. The grave cutting seems to have been enlarged to provide for this addition, and the apparently forced position of the woman in head down and highly contracted supports this notion (Pettitt, 2010)

Thus, this example of African admixture definitely happened in the European context of cultural continuity. Moreover, not only did the grave fit within local Cro-Magnon customs, they fit within the Neanderthal traditions as well: rectangular grave cuttings are already known from Neanderthal contexts as early as 40-60 kya (La Chapelle) and possibly earlier, not unlike Africa where the practice was firmly established in the formal inhumation of infants by ~76,000 BP. Now the most vociferous opponents of Neanderthal continuity became obsolete, I am sure science will remember the many good scientists whose voices so far weren’t listened to as well as it should have been. Bad scientist will ultimately arrive to the conclusion that ‘we’ already knew all along, because fortunately good anthropologists and archeologists have always been amidst us, however scorned for the ‘gradual changes’ they had already noted long ago in European physiology since Cro-Magnon. These changes may now be safely attributed to long-term contact and evolution rather than progressive replacement:

[…] the constituency that I represent – thoroughly Darwinian in its outlook, is quite happy in seeing a European “classic” Neanderthal become transformed by gradual means into a modern European but yet has trouble seeing how the transformation of an African craniofacial pattern into a European one could take place within the same period of time. (Brace, 1996)

Ötzi’s tale about recent evolution, continuity and migration is a deduction of scientific results on his remains that cover archeology, genetics and pathology, though one more feature may be decisive in the evaluation of Neolithic change, that made modern Europeans so different from their pre-Neolithic ancestors. Among Ötzi’s fragile remains his moderately short, ‘mesocephalic’ skull is both a testimony of European (post) Neolithic transformation to modernity and another example of recent, albeit global, evolution. More to come!


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  • Barnett – Gender, Social Roles, and Mental and Physical Health, 2002, link
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  • Brace et al. – The questionable contribution of the Neolithic and the Bronze Age to European craniofacial form, 2005, link
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