Genetic history of Europe
Encyclopedia
The genetic history of Europe can be inferred from the patterns of genetic diversity
across continents and time. The primary data to develop historical scenarios coming from sequences of mitochondrial
, Y-chromosome
and autosomal DNA
from modern populations and if available from ancient DNA
. European populations have a complicated demographic
and genetic
history, including many successive periods of population growth.
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. He used classical genetic markers to analyse DNA by proxy. This method studies differences in the frequencies of particular allelic traits, namely polymorphisms
from proteins found within human blood
(such as the ABO blood groups
, Rhesus blood antigens, HLA loci
, immunoglobulins
, G-6-P-D isoenzymes, amongst others). Subsequently his team calculated genetic distance
between populations, based on the principle that two populations that share similar frequencies of a trait are more closely related than populations that have more divergent frequencies of the trait. From this, he constructed phylogenetic tree
s which showed genetic distances diagrammatically. His team also performed principal component analyses, which is good at analysing multivariate data with minimal loss of information. The information that is lost can be partly restored by generating a second principal component, and so on. In turn, the information from each individual principal component (PC) can be presented graphically in synthetic maps. These maps show peaks and troughs, which represent populations whose gene frequencies
take extreme values compared to others in the studied area.
Peaks and troughs usually, but not necessarily, connected by smooth gradients, called clines. Genetic clines can be generated in several ways: including adaptation to environment (natural selection
), continuous gene flow
between two initially different populations, or a demographic expansion into a scarcely populated environment with little initial admixture with pre-existing populations. Cavalli-Sforza connected these gradients with postulated pre-historic population movements based on known archaeological and linguistic theories. However, given that the time depths of such patterns are not known, “associating them with particular demographic events is usually speculative”.
Studies using direct DNA analysis are now abundant, and may utilize mitochondrial DNA (mtDNA), the non-recombining portion of the Y chromosome (NRY) or autosomal DNA. MtDNA and NRY DNA share some similar features which have made them particularly useful in genetic anthropology. These properties include the direct, unaltered inheritance of mtDNA and NRY DNA from mother to offspring, and father to son, respectively, without the 'scrambling' effects of genetic recombination
. We also presume that these genetic loci are not affected by natural selection, and that the major process responsible for changes in base pair
s has been mutation (which can be calculated).
The smaller effective population size
of the NRY and mtDNA enhances the consequences of drift and founder effect relative to the autosomes, making NRY and mtDNA variation a potentially sensitive index of population composition. However, these biologically plausible assumptions are nevertheless not concrete. For example, Rosser suggests that climatic conditions may affect the fertility of certain lineages.
Even more problematic, however, is the underlying mutation rate
used by the geneticists. They often use different mutation rates, and therefore studies frequently arrive at vastly different conclusions. Moroever, NRY and mtDNA may be so susceptible to drift that some ancient patterns may have become obscured over time. Another implicit assumption is that population genealogies are approximated by allele genealogies. Barbujani points out that this only holds if population groups develop from a genetically monomorphic set of founders. However, Barbujani argues that there is no reason to believe that Europe was colonized by monomorphic populations. This would result in an overestimation of haplogroup age, thus falsely extending the demographic history of Europe into the Late Paleolithic rather than the Neolithic era. (See also Genetic drift
, Founder effect
, Population bottleneck
.) Greater certainty about chronology may be obtained from studies of ancient DNA (see below), but so far these have been comparatively few.
Whereas Y-DNA and mtDNA haplogroups represent but a small component of a person’s DNA pool, autosomal DNA has the advantage of containing hundreds and thousands of examinable genetic loci, thus giving a more complete picture of genetic composition. However, descent relationships can only to be determined on a statistical basis because autosomal DNA undergoes recombination. A single chromosome can record multiple histories; a separate history for each gene. Autosomal studies are much more reliable for showing the relationships between existing populations but do not offer the possibilities for unraveling their histories in the same way as mtDNA and NRY DNA studies promise, despite their many complications.
Genetic studies operate on numerous assumptions and suffer from usual methodological limitations such as selection bias
and confounding. Phenomenon like genetic drift, foundation and bottleneck effects cause large errors, particularly in haplogroup studies. Furthermore, no matter how accurate the methodology, conclusions derived from such studies are ultimately compiled on the basis of how the author envisages their data fits with established archaeological or linguistic theories.
According to Cavalli-Sforza's work, all non-African populations are more closely related to each other than to Africans; supporting the hypothesis that all non-Africans descend from a single old-African population. The genetic distance from Africa to Europe (16.6) was found to be shorter than the genetic distance from Africa to East Asia
(20.6), and much shorter than that from Africa to Australia (24.7). He explains:
This particular model used an Out of Africa migration
100,000 years ago which separated Africans from non-Africans followed by a single admixture event 30,000 years ago leading to the formulation of the European population. The admixture event consisted of a source population that was 35% African and 65% East Asian. However the study notes that a more realistic scenario would include several admixture events occurring over a sustained period. In particular they cite the spread of farming from a source population in West Asia 5000–9000 years ago may have played a role in the genetic relatedness of Africans and Europeans since West Asia is sandwiched in between Africa and Central Asia. The model assumed an out of Africa migration 100kya and a single admixture event 30kya. However, most contemporary studies have more recent dates that place the out of Africa migration 50-70kya. The study also involved a direct comparison between Sub-Saharan Africans (Central Africans and Senegalese) and Europeans. North Africa
ns population were omitted from the study as they are known to have both Eurasian and Sub-Saharan admixture. These considerations might help explain the apparent short genetic distance between Europeans and Africans
A later study by Bauchet, which utilised ~ 10 thousand autosomal DNA SNPs arrived at similar results. Principal component analysis clearly identified four widely dispersed groupings corresponding to Africa, Europe, Central Asia and South Asia
. PC1 separated Africans from the other populations, PC2 divided Asians from Europeans and Africans, whilst PC3 split Central Asians apart from South Asians.
Geneticists agree that Europe is the most genetically homogeneous of all the continents. However, some patterns are discernible. Cavalli-Sforza’s principal component analyses revealed five major clinal patterns throughout Europe, and similar patterns have continued to be found in more recent studies.
He also created a phylogenetic tree to analyse the internal relationships amongst Europeans. He found four major 'outliers'- Basques
, Lapps, Finns and Icelanders
; a result he attributed to their relative isolation (note: with the exception of the Icelanders, the rest of the groups speak non-Indo-European languages
). Greeks
and Yugoslavs
represented a second group of less extreme outliers. The remaining populations clustered into several groups : "Celtic
", "Germanic
", "south-western Europeans", "Scandinavians
" and "eastern Europeans".
There are three big Y-chromosome DNA haplogroup
s which account for most of Europe's patrilineal descent
.
Putting aside small enclaves there are also several haplogroups apart from the above three, which are most common in certain areas of Europe.
haplotypes are particularly useful for locating some of the oldest surviving lineages in humanity.
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There have been a number of studies about the mitochondrial DNA haplogroups (mtDNA) in Europe. In contrast to Y DNA haplogroups, mtDNA haplogroups did not show as much geographical patterning, but were more evenly ubiquitous. Apart from the outlying Saami, all Europeans are characterized by the predominance of haplogroups H, U and T. The lack of observable geographic structuring of mtDNA may be due to socio-cultural factors, namely the phenomena of polygyny
and patrilocality
. According to the University of Oulu
Library in Finland:
. However, a small number of ancient mtDNA and Y-DNA analyses are available from both the historical and prehistoric periods.
groups”. Most individual participants with southern Europe
an ancestry (Italians
, Greeks
, Portuguese
, Spaniards
), and Ashkenazi Jews
have >85% membership in the ‘southern’ population; and most northern, western, central, and eastern Europeans (Swedes
, English
, Irish
, Germans
, and Ukrainians
) have >90% in the ‘northern’ population group. However, many of the participants in this study were actually American citizens who self-identified with different European ethnicities based on self-reported familial pedigree.
A similar study in 2007 using samples exclusively from Europe found that the most important genetic differentiation in Europe occurs on a line from the north to the south-east (northern Europe
to the Balkans), with another east-west axis of differentiation across Europe. Its findings were consistent with earlier results based on mtDNA and Y-chromosonal DNA that support the theory that modern Iberians (Spanish and Portuguese) hold the most ancient European genetic ancestry, as well as separating Basques and Sami from other European populations. It suggested that the English
and Irish cluster with other Northern and Eastern Europeans such as Germans
and Poles
, while some Basque and Italian individuals also clustered with Northern Europeans. Despite these stratifications, it noted the unusually high degree of European homogeneity: "there is low apparent diversity in Europe with the entire continent-wide samples only marginally more dispersed than single population samples elsewhere in the world."
In 2008, two international research teams published analyses of large-scale genotyping of large samples of Europeans, using over 300,000 autosomal SNPs. With the exception of usual isolates such as Basques, Finns and Sardinians, the European population lacked sharp discontinuities (clustering) as previous studies have found (see Seldin et al. 2006 and Bauchett et al. 2007), although there was a discernible south to north gradient. Overall, they found only a low level of genetic differentiation between subpopulations, and differences which did exist were characterized by a strong continent-wide correlation between geographic and genetic distance. In addition, they found that diversity was greatest in southern Europe due a larger effective population size and/or population expansion
from southern to northern Europe. The researchers take this observation to imply that genetically, Europeans are not distributed into discrete populations.
A study in May 2009 of 19 populations from Europe using 270,000 SNPs highlighted the genetic diversity or European populations corresponding to the northwest to southeast gradient and distinguished "four several distinct regions" within Europe:
In this study, barrier analysis revealed "genetic barriers" between Finland, Italy and other countries and interestingly, barriers could also be demonstrated within Finland (between Helsinki and Kuusamo) and Italy (between northern and southern part, Fst= 0.0050). Fst (Fixation index) was found to correlate considerably with geographic distances ranging from ≤0.0010 for neighbouring populations to 0.0200-0.0230 for Southern Italy and Finland. For comparisons, pair-wise Fst of non-European samples were as follows: Europeans – Africans (Yoruba) 0.1530; Europeans – Chinese 0.1100; Africans (Yoruba) – Chinese 0.1900.
A study by Chao Tian in August 2009 extended the analysis of European population genetic structure to include additional southern European groups and Arab populations (Palestinians, Druzes...) from the Near-East. This study determined autosomal Fst between 18 population groups and concluded that, in general, genetic distances corresponded to geographical relationships with smaller values between population groups with origins in neighboring countries/regions (for example, Greeks
/Tuscans
: Fst = 0.0010, Greeks
/Palestinians: Fst = 0.0057) compared with those from very different regions in Europe (for example Greeks
/Swedish: Fst = 0.0087, Greeks
/Russians
: Fst = 0.0108).
, the concept developed in the 1920s by Sewall Wright
. Fst is simply the correlation of randomly chosen alleles within the same sub-population relative to that found in the entire population. It is often expressed as the proportion of genetic diversity due to allele frequency differences among populations. The values range from 0 to 1. A zero value implies that the two populations are panmixis, that they are interbreeding freely. A value of one would imply that the two populations are completely separate. The greater the Fst value, the greater the genetic distance.
|}
of the European peoples can be traced by the examination of archaeological
sites, linguistic studies
and by the examination of the DNA
of the people who live in Europe or from ancient DNA. The research continues and so theories rise and fall. Although it is possible to track migrations of people across Europe using founder analysis of DNA, most information on these movements comes from archaeology. It is important to note that the colonization of Europe did not occur in discrete migrations, as might appear to be suggested. Rather, the settlement process was complex and "likely to have occurred in multiple (sic) waves from the east and to have been subsequently obscured by millennia of recurrent gene flow".
inhabited much of Europe and western Asia from as far back as 130,000 years ago. They existed in Europe as late as 30,000 years ago. They were replaced by anatomically modern humans
(A.M.H.), Cro-Magnoid
Homo sapiens
, who began to appear in Europe c. 40,000 years ago. Given that the two hominid species likely co-existed in Europe, anthropologists wondered whether the two interacted. Before the advent of genetic studies, some anthropologists believed they had discovered skeletons representing Neanderthal-modern human 'hybrids'. These results were deemed 'ambiguous'. Archaeological evidence points to an abrupt change from Neanderthal artefacts to those related to A.M.H. during the Upper Palaeolithic
. Y chromosomal and mtDNA data suggest that modern European DNA derives from Africa, which diverged less than 100,000 years ago, whereas the last common ancestor between the two species lived between 500,000 to 600,000 years ago. While it is conceivable that the autosomes of modern Europeans may retain Neanderthal sequences, Neanderthals were replaced by modern humans. Technological, economic and intellectual advantages not only allowed AMH to better adapt to the Upper Palaeolithic environment of Europe but probably also resulted in cultural and therefore biological barriers between the two species.
There has been speculation about the inheritance of specific genes from Neanderthals. For example one MAPT
locus 17
q21.3 which is split into deep genetic lineages H1 and H2. Since the H2 lineage seems restricted to European populations, several authors have suggested inheritance from Neanderthals. However the preliminary results from the sequencing of the full Neanderthal Genome have shown no evidence of interbreeding between Neanderthals and modern humans.
The latest findings by Paabo, Richard E. Green of the University of California, Santa Cruz and David Reich of Harvard Medical School, comparing the genetic material from the bones of three Neanderthals with that from five modern humans, show a relationship between Neanderthals and modern people outside Africa. This suggests that interbreeding occurred in the Middle East.
It is thought that modern humans began to colonize Europe during the Upper Paleolithic about 40,000 years ago. Some evidence shows the spread of the Aurignacian culture
. From a Y-chromosome perspective, Semino (2000) proposed that the large haplogroup R1 is an ancient Eurasiatic marker brought in by Homo sapiens who diffused west into Europe ~ 40 ky ago. Haplogroup I might represent another putative Palaeolithic marker whose age has been estimated to ~ 22 kYa. Whilst it is 'unique' to Europe, it probably arose in descendants of men arriving from the Middle East c. 20 - 25 kYa, arising from parent haplogroup IJ. At this time, another Upper Palaeolithic culture appears, the Gravettian culture
. Thus the genetic data suggests that, from a male perspective, modern humans might have taken two colonising routes, one from the middle east via the Balkans and another from Central Asia to the north of the Black Sea
. It is now believed that the haplogroup R1 is substantially younger: a 2008 study dated the most recent common ancestor of the haplogroup R1 by 18.5 kYa, and the most recent ancestor of the haplogroup IJ by 38.5 kYa, suggesting that haplogroup IJ colonists formed the first wave and haplogroup R1 arrived much later.
Martin Richards et al. found that 15 - 40% of extant mtDNA lineages trace back to the Palaeolithic migrations (depending on whether one allows for multiple founder events). MtDNA haplogroup U5, dated to be ~ 40 to 50 kYa, arrived during the first early upper Palaeolithic colonisation. Individually, it accounts for 5-15 % of total mtDNA lineages. Middle U.P. movements are marked by the haplogroups HV, I and U4. HV split into Pre-V (around 26,000 years old) and the larger branch H, both of which spread over Europe, possibly via Gravettian contacts. Haplogroup H
accounts for about half the gene lines in Europe, with many subgroups. The above mtDNA lineages or their precursors, are most likely to have arrived into Europe via the Middle East. This contrasts with Y DNA evidence, whereby some 50%+ of male lineages are characterized by the R1 superfamily, which is of possible central Asian origin. Semino postulates that these differences "may be due in part to the apparent more recent molecular age of Y chromosomes relative to other loci, suggesting more rapid replacement of previous Y chromosomes. Gender-based differential migratory demographic behaviors will also influence the observed patterns of mtDNA and Y variation".
This event decreased the overall genetic diversity in Europe, a "result of drift, consistent with an inferred population bottleneck during the Last Glacial Maximum". As the glaciers receded from about 16,000-13,000 years ago, Europe began to be slowly repopulated by people from refugia, leaving genetic signatures.
Some Y haplogroup I clades appear to have diverged from their parental haplogroups sometime during or shortly after the LGM. Haplogroup I2 is prevalent in the western Balkans, as well as the rest of southeastern and central-eastern Europe in more moderate frequencies. Its frequency drops rapidly in central Europe, suggesting that the survivors bearing I2 lineages expanded predominantly through south-eastern and central-eastern Europe.
Cinnioglu sees evidence for the existence of an Anatolian refuge, which also harboured Hg R1b1b2. Today, R1b dominates the y chromosome landscape of western Europe and the British Isles, suggesting that there could have been large population composition changes based on migrations after the LGM.
Semino, Passarino and Pericic place the origins of haplogroup R1a within the Ukrainian ice-age
refuge. Its current distribution in eastern Europe and parts of Scandinavia are in part reflective of a re-peopling of Europe from the southern Russian/Ukrainian steppes during the Late Glacial Maximum.
From an mtDNA perspective, Richards et al. found that the majority of mtDNA diversity in Europe is accounted for by post-glacial re-expansions during the late upper Palaeolithic/ Mesolithic. "The regional analyses lend some support to the suggestion that much of western and central Europe was repopulated largely from the southwest when the climate improved. The lineages involved include much of the most common haplogroup, H, as well as much of K, T, W, and X." The study could not determine whether there were new migrations of mtDNA lineages from the near east during this period; a significant input was deemed unlikely.
The alternative model of more refugees was discussed by Bilton et al.
The duration of the Neolithic varied from place to place, starting with the introduction of farming and ending with the introduction of bronze implements. In SE Europe it was approximately 7000-3000 BC while in NW Europe 4500-1700 BC. During this era, the Neolithic revolution led to drastic economic as well as socio-cultural changes in Europe and this is also thought to have had a big effect on Europe's genetic diversity, especially concerning genetic lineages entering Europe from the Middle East into the Balkans. There were several phases of this period:
An important issue regarding the genetic impact of neolithic technologies in Europe is the manner by which they were transferred into Europe; whether farming was introduced by a significant migration of farmers from the Near East (Cavalli-Sforza's biological demic diffusion
model) or a "cultural diffusion" or a combination of the two. Secondarily, population geneticists have tried to clarify whether any genetic signatures of Near Eastern origin correspond to the expansion routes postulated by the archaeological evidence.
Martin Richards estimated that only 11% of European mtDNA is due to immigration in this period, suggesting that farming was spread primarily due to being adopted by indigenous Mesolithic populations, rather than due to immigration from Near East. Gene flow from SE to NW Europe seems to have continued in the Neolithic, the percentage significantly declining towards the British Isles. Classical genetics
also suggested that the largest admixture to the European Paleolithic/Mesolithic stock was due to the Neolithic revolution
of the 7th to 5th millennia BC. Three main mtDNA gene groups have been identified as contributing Neolithic entrants into Europe: J, T1 and U3 (in that order of importance). With others they amount up to around 20% of the gene pool
.
In 2000, Semino's study on Y DNA revealed the presence of haplotypes belonging to the large clade E1b1b1 (E-M35). These were predominantly found in the southern Balkans, southern Italy and parts of Iberia. Semino connected this pattern, along with J haplogroup subclades, to be the Y-DNA component of Cavalli-Sforza's Neolithic demic-diffusion of farmers from the Near East. Rosser et al. rather saw it as a (direct) 'North African component' in European genealogy, although they did not propose a timing and mechanism to account for it. also described E1b1b as representing a late-Pleistocene
migration from Africa to Europe over the Sinai Peninsula
in Egypt
, evidence for which does not show up in mitochondrial DNA.
Concerning timing the distribution and diversity of V13 however, proposed an earlier movement whereby the E-M78* lineage ancestral to all modern E-V13 men moved rapidly out of a Southern Egyptian homeland and arrived in Europe with only Mesolithic
technologies. They then suggest that the E-V13 sub-clade of E-M78 only expanded subsequently as native Balkan 'foragers-cum-farmers' adopted Neolithic technologies from the Near East. They propose that the first major dispersal of E-V13 from the Balkans may have been in the direction of the Adriatic Sea
with the Neolithic
Impressed Ware
culture often referred to as Impressa or Cardial
. , rather propose that the main route of E-V13 spread was along the Vardar-Morava-Danube river 'highway' system.
In contrast to Battaglia, suggest (i) a different point of V-13 origin and (ii) a later dispersal time. Cruciani argues that V-13 arose in western Asia, where it is found in low but significant frequencies, from whence it entered the Balkans sometime after 11 kYa. It later experienced a rapid dispersal which he dated to c. 5300 years ago in Europe, coinciding with the Balkan Bronze Age. Like Peričic et al. they consider that "the dispersion of the E-V13 and J-M12 haplogroups seems to have mainly followed the river waterways connecting the southern Balkans to north-central Europe".
Most likely, the demographic history of V13 is complex, as later population movements further amplified it's frequency in the Europe. (See below.)
After an initial focus upon E1b1b as a Neolithic marker, a more recent study in January 2010, looked at Y haplogroup R1b1b, which is much more common in Western Europe
. Mark Jobling said: "We focused on the commonest Y-chromosome lineage in Europe, carried by about 110 million men, it follows a gradient from south-east to north-west, reaching almost 100% frequency in Ireland. We looked at how the lineage is distributed, how diverse it is in different parts of Europe, and how old it is." The results suggested that the lineage R1b1b2 (R-M269)
, like E1b1b or J
lineages, spread together with farming from the Near East. Dr Patricia Balaresque added: "In total, this means that more than 80% of European Y chromosomes descend from incoming farmers. In contrast, most maternal genetic lineages seem to descend from hunter-gatherers. To us, this suggests a reproductive advantage for farming males over indigenous hunter-gatherer males during the switch from hunting and gathering, to farming".
A more recent article concerning R1b made the counter claim that "the data are still controversial and the analyses so far performed are prone to a number of biases" and presented some evidence that R1b was also part of "an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool".
saw the development of long-distance trading network
s, particularly along the Atlantic Coast and in the Danube valley. There was migration from Norway to Orkney and Shetland in this period (and to a lesser extent to mainland Scotland and Ireland). There was also migration from Germany to eastern England
. Martin Richards estimated that there was about 4% mtDNA immigration to Europe in the Bronze Age.
One theory about the origin of the Indo-European language
centres around a hypothetical Proto-Indo-European
people, who are traced, in the Kurgan hypothesis
, to somewhere north of the Black and Caspian Seas at about 4500 BC
. They domesticated the horse
and possibly invented the wheel
, and are considered to have spread their culture and genes across Europe. The Y haplogroup R1a is a proposed marker of these "Kurgan" genes, although the haplogroup as a whole may be much older than the language family. The rate of their physical expansion would have declined at the western edge of the steppe
, but carriers of the R1a haplogroup are present in substantial numbers as far west as Germany. The Kurgan culture and language went farther, eventually replacing most cultures and languages all the way to the Atlantic. Another hypothesis — the Anatolian hypothesis
— suggests an origin in Anatolia with a later expansion from eastern Europe.
To what extent Indo-European migrations replaced the indigenous Mesolithic
peoples is debated.
During the Iron Age, Celts are recorded as having moved from Gaul
into northern Italy
, Eastern Europe and Anatolia. The relationship between the Celts of Gaul and Spain is unclear as any migration occurred before records exist.
In the far north, carriers of the haplogroup N
arrived to Europe from Siberia
at some point, eventually expanding as far as Finland
, though the specific timing of their arrival is uncertain. The most common North European subclade N1c1 is estimated to be around 8,000 years old. There is evidence of human settlement in Finland dating back to 8500 BCE, linked with Kunda culture
and its putative ancestor Swiderian culture
, but the latter is thought to have European origin. The geographical spread of haplogroup N in Europe is well aligned with the Pit–Comb Ware culture, whose emergence is commonly dated circa 4200 BCE, and with the distribution of Uralic languages
. Mitochondrial DNA studies of Sami people
are consistent with multiple migrations to Scandinavia
from Volga-Ural
region, starting 6,000 to 7,000 years before present. The relationship between roles of European and Asian colonists in the prehistory of Finland is a point of some contention, and some scholars insist that Finns are "predominantly Eastern European and made up of people who trekked north from the Ukrainian refuge during the Ice Age". Further east, the issue is less contentious. Haplogroup N carriers account for a significant part of all non-Slavic ethnic groups in northern Russia
, including 37% of Karelians
, 35% of Komi people, 67% of Mari people, as many as 98% of Nenets people
, 94% of Nganasans, and 86% to 94% of Yakuts
.
, historical sources show that there were many movements of people around Europe, both within and outside the Empire. Historic sources sometimes cite instances of genocide incited by the Romans upon rebellious provincial tribes. If this did in fact occur, it would have been limited given that modern populations show considerable genetic continuity in their respective regions. The process of 'romanization
' appears to have been accomplished by the colonization of provinces by a few Latin speaking administrators, military personnel
and private citizens (merchants, traders) who emanated from the Empire's various regions (and not merely the Italian peninsula
). They served as a nucleus for the acculturation of local notables. Given their small numbers and varied origins, Romanization does not appear to have left distinct genetic signatures in Europe. Indeed, Romance-speaking populations in the Balkans have been found to genetically resemble neighbouring Greek and Slavic-speaking peoples rather than modern Italians.
Steven Bird has speculated that E1b1b1a was spread during the Roman era from Italy and the Balkans into the rest of Europe.
Concerning the late Roman period of Germanic
"Völkerwanderung ", some suggestions have been made, at least for Britain, with Y haplogroup I1a being associated with Anglo-Saxon
immigration in eastern England, and R1a being associated with Norse immigration in northern Scotland.
Genetic diversity
Genetic diversity, the level of biodiversity, refers to the total number of genetic characteristics in the genetic makeup of a species. It is distinguished from genetic variability, which describes the tendency of genetic characteristics to vary....
across continents and time. The primary data to develop historical scenarios coming from sequences of mitochondrial
Mitochondrial DNA
Mitochondrial DNA is the DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate...
, Y-chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
and autosomal DNA
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
from modern populations and if available from ancient DNA
Ancient DNA
Ancient DNA is DNA isolated from ancient specimens. It can be also loosely described as any DNA recovered from biological samples that have not been preserved specifically for later DNA analyses...
. European populations have a complicated demographic
Demography
Demography is the statistical study of human population. It can be a very general science that can be applied to any kind of dynamic human population, that is, one that changes over time or space...
and genetic
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
history, including many successive periods of population growth.
Genetic studies
One of the first scholars to perform genetic studies was Luigi Luca Cavalli-SforzaLuigi Luca Cavalli-Sforza
Luigi Luca Cavalli-Sforza is an Italian population geneticist born in Genoa, who has been a professor at Stanford University since 1970 .-Books:...
. He used classical genetic markers to analyse DNA by proxy. This method studies differences in the frequencies of particular allelic traits, namely polymorphisms
Polymorphism (biology)
Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species — in other words, the occurrence of more than one form or morph...
from proteins found within human blood
Blood
Blood is a specialized bodily fluid in animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells....
(such as the ABO blood groups
ABO blood group system
The ABO blood group system is the most important blood type system in human blood transfusion. The associated anti-A antibodies and anti-B antibodies are usually IgM antibodies, which are usually produced in the first years of life by sensitization to environmental substances such as food,...
, Rhesus blood antigens, HLA loci
Major histocompatibility complex
Major histocompatibility complex is a cell surface molecule encoded by a large gene family in all vertebrates. MHC molecules mediate interactions of leukocytes, also called white blood cells , which are immune cells, with other leukocytes or body cells...
, immunoglobulins
Antibody
An antibody, also known as an immunoglobulin, is a large Y-shaped protein used by the immune system to identify and neutralize foreign objects such as bacteria and viruses. The antibody recognizes a unique part of the foreign target, termed an antigen...
, G-6-P-D isoenzymes, amongst others). Subsequently his team calculated genetic distance
Genetic distance
Genetic distance refers to the genetic divergence between species or between populations within a species. It is measured by a variety of parameters. Smaller genetic distances indicate a close genetic relationship whereas large genetic distances indicate a more distant genetic relationship...
between populations, based on the principle that two populations that share similar frequencies of a trait are more closely related than populations that have more divergent frequencies of the trait. From this, he constructed phylogenetic tree
Phylogenetic tree
A phylogenetic tree or evolutionary tree is a branching diagram or "tree" showing the inferred evolutionary relationships among various biological species or other entities based upon similarities and differences in their physical and/or genetic characteristics...
s which showed genetic distances diagrammatically. His team also performed principal component analyses, which is good at analysing multivariate data with minimal loss of information. The information that is lost can be partly restored by generating a second principal component, and so on. In turn, the information from each individual principal component (PC) can be presented graphically in synthetic maps. These maps show peaks and troughs, which represent populations whose gene frequencies
Allele frequency
Allele frequency or Gene frequency is the proportion of all copies of a gene that is made up of a particular gene variant . In other words, it is the number of copies of a particular allele divided by the number of copies of all alleles at the genetic place in a population. It can be expressed for...
take extreme values compared to others in the studied area.
Peaks and troughs usually, but not necessarily, connected by smooth gradients, called clines. Genetic clines can be generated in several ways: including adaptation to environment (natural selection
Natural selection
Natural selection is the nonrandom process by which biologic traits become either more or less common in a population as a function of differential reproduction of their bearers. It is a key mechanism of evolution....
), continuous gene flow
Gene flow
In population genetics, gene flow is the transfer of alleles of genes from one population to another.Migration into or out of a population may be responsible for a marked change in allele frequencies...
between two initially different populations, or a demographic expansion into a scarcely populated environment with little initial admixture with pre-existing populations. Cavalli-Sforza connected these gradients with postulated pre-historic population movements based on known archaeological and linguistic theories. However, given that the time depths of such patterns are not known, “associating them with particular demographic events is usually speculative”.
Studies using direct DNA analysis are now abundant, and may utilize mitochondrial DNA (mtDNA), the non-recombining portion of the Y chromosome (NRY) or autosomal DNA. MtDNA and NRY DNA share some similar features which have made them particularly useful in genetic anthropology. These properties include the direct, unaltered inheritance of mtDNA and NRY DNA from mother to offspring, and father to son, respectively, without the 'scrambling' effects of genetic recombination
Genetic recombination
Genetic recombination is a process by which a molecule of nucleic acid is broken and then joined to a different one. Recombination can occur between similar molecules of DNA, as in homologous recombination, or dissimilar molecules, as in non-homologous end joining. Recombination is a common method...
. We also presume that these genetic loci are not affected by natural selection, and that the major process responsible for changes in base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s has been mutation (which can be calculated).
The smaller effective population size
Effective population size
In population genetics, the concept of effective population size Ne was introduced by the American geneticist Sewall Wright, who wrote two landmark papers on it...
of the NRY and mtDNA enhances the consequences of drift and founder effect relative to the autosomes, making NRY and mtDNA variation a potentially sensitive index of population composition. However, these biologically plausible assumptions are nevertheless not concrete. For example, Rosser suggests that climatic conditions may affect the fertility of certain lineages.
Even more problematic, however, is the underlying mutation rate
Mutation rate
In genetics, the mutation rate is the chance of a mutation occurring in an organism or gene in each generation...
used by the geneticists. They often use different mutation rates, and therefore studies frequently arrive at vastly different conclusions. Moroever, NRY and mtDNA may be so susceptible to drift that some ancient patterns may have become obscured over time. Another implicit assumption is that population genealogies are approximated by allele genealogies. Barbujani points out that this only holds if population groups develop from a genetically monomorphic set of founders. However, Barbujani argues that there is no reason to believe that Europe was colonized by monomorphic populations. This would result in an overestimation of haplogroup age, thus falsely extending the demographic history of Europe into the Late Paleolithic rather than the Neolithic era. (See also Genetic drift
Genetic drift
Genetic drift or allelic drift is the change in the frequency of a gene variant in a population due to random sampling.The alleles in the offspring are a sample of those in the parents, and chance has a role in determining whether a given individual survives and reproduces...
, Founder effect
Founder effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall...
, Population bottleneck
Population bottleneck
A population bottleneck is an evolutionary event in which a significant percentage of a population or species is killed or otherwise prevented from reproducing....
.) Greater certainty about chronology may be obtained from studies of ancient DNA (see below), but so far these have been comparatively few.
Whereas Y-DNA and mtDNA haplogroups represent but a small component of a person’s DNA pool, autosomal DNA has the advantage of containing hundreds and thousands of examinable genetic loci, thus giving a more complete picture of genetic composition. However, descent relationships can only to be determined on a statistical basis because autosomal DNA undergoes recombination. A single chromosome can record multiple histories; a separate history for each gene. Autosomal studies are much more reliable for showing the relationships between existing populations but do not offer the possibilities for unraveling their histories in the same way as mtDNA and NRY DNA studies promise, despite their many complications.
Genetic studies operate on numerous assumptions and suffer from usual methodological limitations such as selection bias
Selection bias
Selection bias is a statistical bias in which there is an error in choosing the individuals or groups to take part in a scientific study. It is sometimes referred to as the selection effect. The term "selection bias" most often refers to the distortion of a statistical analysis, resulting from the...
and confounding. Phenomenon like genetic drift, foundation and bottleneck effects cause large errors, particularly in haplogroup studies. Furthermore, no matter how accurate the methodology, conclusions derived from such studies are ultimately compiled on the basis of how the author envisages their data fits with established archaeological or linguistic theories.
Relation between Europeans and other populations
| Africa | Oceania | East Asia | Europe | |
| Oceania | 24.7 | |||
| East Asia | 20.6 | 10 | ||
| Europe | 16.6 | 13.5 | 9.7 | |
| America | 22.6 | 14.6 | 8.9 | 9.5 |
According to Cavalli-Sforza's work, all non-African populations are more closely related to each other than to Africans; supporting the hypothesis that all non-Africans descend from a single old-African population. The genetic distance from Africa to Europe (16.6) was found to be shorter than the genetic distance from Africa to East Asia
East Asia
East Asia or Eastern Asia is a subregion of Asia that can be defined in either geographical or cultural terms...
(20.6), and much shorter than that from Africa to Australia (24.7). He explains:
This particular model used an Out of Africa migration
Recent African origin of modern humans
In paleoanthropology, the recent African origin of modern humans is the most widely accepted model describing the origin and early dispersal of anatomically modern humans...
100,000 years ago which separated Africans from non-Africans followed by a single admixture event 30,000 years ago leading to the formulation of the European population. The admixture event consisted of a source population that was 35% African and 65% East Asian. However the study notes that a more realistic scenario would include several admixture events occurring over a sustained period. In particular they cite the spread of farming from a source population in West Asia 5000–9000 years ago may have played a role in the genetic relatedness of Africans and Europeans since West Asia is sandwiched in between Africa and Central Asia. The model assumed an out of Africa migration 100kya and a single admixture event 30kya. However, most contemporary studies have more recent dates that place the out of Africa migration 50-70kya. The study also involved a direct comparison between Sub-Saharan Africans (Central Africans and Senegalese) and Europeans. North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
ns population were omitted from the study as they are known to have both Eurasian and Sub-Saharan admixture. These considerations might help explain the apparent short genetic distance between Europeans and Africans
A later study by Bauchet, which utilised ~ 10 thousand autosomal DNA SNPs arrived at similar results. Principal component analysis clearly identified four widely dispersed groupings corresponding to Africa, Europe, Central Asia and South Asia
South Asia
South Asia, also known as Southern Asia, is the southern region of the Asian continent, which comprises the sub-Himalayan countries and, for some authorities , also includes the adjoining countries to the west and the east...
. PC1 separated Africans from the other populations, PC2 divided Asians from Europeans and Africans, whilst PC3 split Central Asians apart from South Asians.
European population sub-structure
- A cline of genes with highest frequencies in the Middle EastMiddle EastThe Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
, spreading to lowest levels northwest. Cavalli-Sforza originally described this as faithfully reflecting the spread of agriculture in Neolithic times. This has been the general tendency in interpretation of all genes with this pattern. - A cline of genes with highest frequencies amongst Finnish and SaamiSami peopleThe Sami people, also spelled Sámi, or Saami, are the arctic indigenous people inhabiting Sápmi, which today encompasses parts of far northern Sweden, Norway, Finland, the Kola Peninsula of Russia, and the border area between south and middle Sweden and Norway. The Sámi are Europe’s northernmost...
in the extreme north east, and spreading to lowest frequencies in the south west. - A cline of genes with highest frequencies in the area of the lower DonDon River (Russia)The Don River is one of the major rivers of Russia. It rises in the town of Novomoskovsk 60 kilometres southeast from Tula, southeast of Moscow, and flows for a distance of about 1,950 kilometres to the Sea of Azov....
and VolgaVolga RiverThe Volga is the largest river in Europe in terms of length, discharge, and watershed. It flows through central Russia, and is widely viewed as the national river of Russia. Out of the twenty largest cities of Russia, eleven, including the capital Moscow, are situated in the Volga's drainage...
rivers in southern RussiaSouthern Federal DistrictSouthern Federal District is one of the eight federal districts of Russia. Its territory lies mostly on the Pontic-Caspian steppe. Its population was 13,856,700 according to the 2010 Census, living on an area of...
, and spreading to lowest frequencies in IberiaIberian PeninsulaThe Iberian Peninsula , sometimes called Iberia, is located in the extreme southwest of Europe and includes the modern-day sovereign states of Spain, Portugal and Andorra, as well as the British Overseas Territory of Gibraltar...
, Southern Italy, GreeceGreeceGreece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....
and the areas inhabited by Saami speakersSami languagesSami or Saami is a general name for a group of Uralic languages spoken by the Sami people in parts of northern Finland, Norway, Sweden and extreme northwestern Russia, in Northern Europe. Sami is frequently and erroneously believed to be a single language. Several names are used for the Sami...
in the extreme north of ScandinaviaScandinaviaScandinavia is a cultural, historical and ethno-linguistic region in northern Europe that includes the three kingdoms of Denmark, Norway and Sweden, characterized by their common ethno-cultural heritage and language. Modern Norway and Sweden proper are situated on the Scandinavian Peninsula,...
. Cavalli-Sforza associated this with the spread of Indo-European languages, which he links in turn to a "secondary expansion" after the spread of agriculture, associated with animal grazing. - A cline of genes with highest frequencies in the BalkansBalkansThe Balkans is a geopolitical and cultural region of southeastern Europe...
and Southern Italy, spreading to lowest levels in Britain and the Basque country. Cavalli-Sforza associates this with "the Greek expansion, which reached its peak in historical times around 1000 and 500 BC6th century BCThe 6th century BC started the first day of 600 BC and ended the last day of 501 BC.Pāṇini, in India, composed a grammar for Sanskrit, in this century or slightly later...
but which certainly began earlier" - A cline of genes with highest frequencies in the Basque country, and lower levels beyond the area of Iberia and Southern FranceSouthern FranceSouthern France , colloquially known as le Midi is defined geographical area consisting of the regions of France that border the Atlantic Ocean south of the Gironde, Spain, the Mediterranean, and Italy...
. In perhaps the most well-known conclusion from Cavalli-Sforza this weakest of the 5 patterns was described as isolated remnants of the pre-Neolithic population of Europe, "who at least partially withstood the expansion of the cultivators". It corresponds roughly to the geographical spread of rhesus negativeRh blood group systemThe Rh blood group system is one of thirty current human blood group systems. Clinically, it is the most important blood group system after ABO. At Present, the Rh blood group system consists of 50 defined blood-group antigens, among which the 5 antigens D, C, c, E, and e are the most important...
blood types. In particular, the conclusion that the Basques are a genetic isolate has become widely discussed, but also a controversial conclusion.
He also created a phylogenetic tree to analyse the internal relationships amongst Europeans. He found four major 'outliers'- Basques
Basque people
The Basques as an ethnic group, primarily inhabit an area traditionally known as the Basque Country , a region that is located around the western end of the Pyrenees on the coast of the Bay of Biscay and straddles parts of north-central Spain and south-western France.The Basques are known in the...
, Lapps, Finns and Icelanders
Icelanders
Icelanders are a Scandinavian ethnic group and a nation, native to Iceland.On 17 June 1944, when an Icelandic republic was founded the Icelanders became independent from the Danish monarchy. The language spoken is Icelandic, a North Germanic language, and Lutheranism is the predominant religion...
; a result he attributed to their relative isolation (note: with the exception of the Icelanders, the rest of the groups speak non-Indo-European languages
Indo-European languages
The Indo-European languages are a family of several hundred related languages and dialects, including most major current languages of Europe, the Iranian plateau, and South Asia and also historically predominant in Anatolia...
). Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
and Yugoslavs
Yugoslavs
Yugoslavs is a national designation used by a minority of South Slavs across the countries of the former Yugoslavia and in the diaspora...
represented a second group of less extreme outliers. The remaining populations clustered into several groups : "Celtic
Celtic nations
The Celtic nations are territories in North-West Europe in which that area's own Celtic languages and some cultural traits have survived.The term "nation" is used in its original sense to mean a people who share a common traditional identity and culture and are identified with a traditional...
", "Germanic
Germanic peoples
The Germanic peoples are an Indo-European ethno-linguistic group of Northern European origin, identified by their use of the Indo-European Germanic languages which diversified out of Proto-Germanic during the Pre-Roman Iron Age.Originating about 1800 BCE from the Corded Ware Culture on the North...
", "south-western Europeans", "Scandinavians
Scandinavians
Scandinavians are a group of Germanic peoples, inhabiting Scandinavia and to a lesser extent countries associated with Scandinavia, and speaking Scandinavian languages. The group includes Danes, Norwegians and Swedes, and additionally the descendants of Scandinavian settlers such as the Icelandic...
" and "eastern Europeans".
Genetic studies after Cavalli-Sforza
New technologies have allowed for DNA haplotypes to be studied directly with increasing speed and accuracy, giving more refined data than was available in the original studies of Cavalli-Sforza.Human Y-chromosome DNA haplogroups
Haplogroup
In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...
s which account for most of Europe's patrilineal descent
Patrilineality
Patrilineality is a system in which one belongs to one's father's lineage. It generally involves the inheritance of property, names or titles through the male line as well....
.
- Haplogroup R1bHaplogroup R1b (Y-DNA)The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....
is common all over Europe but especially common in Western EuropeWestern EuropeWestern Europe is a loose term for the collection of countries in the western most region of the European continents, though this definition is context-dependent and carries cultural and political connotations. One definition describes Western Europe as a geographic entity—the region lying in the...
. Nearly all of this R1b in Europe is in the form of the R1b1a2 (2011 name) (R-M269) sub-clade, specifically within the R-L23 sub-sub-clade whereas R1b found in Central AsiaCentral AsiaCentral Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north...
, western Asia and AfricaAfricaAfrica is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area...
tends to be in other clades. It has also been pointed out that outlierOutlierIn statistics, an outlier is an observation that is numerically distant from the rest of the data. Grubbs defined an outlier as: An outlying observation, or outlier, is one that appears to deviate markedly from other members of the sample in which it occurs....
types are present in Europe and are particularly notable in some areas such as Sardinia. Haplogroup R1b frequencies vary from highs in western Europe in a steadily decreasing cline with growing distance from the Atlantic: 80-90% (WelshWelsh peopleThe Welsh people are an ethnic group and nation associated with Wales and the Welsh language.John Davies argues that the origin of the "Welsh nation" can be traced to the late 4th and early 5th centuries, following the Roman departure from Britain, although Brythonic Celtic languages seem to have...
, Basques, IrishIrish peopleThe Irish people are an ethnic group who originate in Ireland, an island in northwestern Europe. Ireland has been populated for around 9,000 years , with the Irish people's earliest ancestors recorded having legends of being descended from groups such as the Nemedians, Fomorians, Fir Bolg, Tuatha...
, ScotsScottish peopleThe Scottish people , or Scots, are a nation and ethnic group native to Scotland. Historically they emerged from an amalgamation of the Picts and Gaels, incorporating neighbouring Britons to the south as well as invading Germanic peoples such as the Anglo-Saxons and the Norse.In modern use,...
, north-western SpanishSpanish peopleThe Spanish are citizens of the Kingdom of Spain. Within Spain, there are also a number of vigorous nationalisms and regionalisms, reflecting the country's complex history....
, PortuguesePortuguese peopleThe Portuguese are a nation and ethnic group native to the country of Portugal, in the west of the Iberian peninsula of south-west Europe. Their language is Portuguese, and Roman Catholicism is the predominant religion....
and western FrenchFrench peopleThe French are a nation that share a common French culture and speak the French language as a mother tongue. Historically, the French population are descended from peoples of Celtic, Latin and Germanic origin, and are today a mixture of several ethnic groups...
); around 40-60% in most other parts of western EuropeWestern EuropeWestern Europe is a loose term for the collection of countries in the western most region of the European continents, though this definition is context-dependent and carries cultural and political connotations. One definition describes Western Europe as a geographic entity—the region lying in the...
. It drops outside this area and is around 20% or less in areas such as southern Italy, SwedenSwedenSweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....
, PolandPolandPoland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north...
, the Balkans and CyprusCyprusCyprus , officially the Republic of Cyprus , is a Eurasian island country, member of the European Union, in the Eastern Mediterranean, east of Greece, south of Turkey, west of Syria and north of Egypt. It is the third largest island in the Mediterranean Sea.The earliest known human activity on the...
. R1b remains the most common clade as one moves east to Germany, while further east in Poland, R1a is more common (see below). In southeastern EuropeSoutheast EuropeSoutheast Europe or Southeastern Europe is a relatively recent political designation for the states of the Balkans. Writers such as Maria Todorova and Vesna Goldsworthy have suggested the use of the term Southeastern Europe to replace the word Balkans for the region, to minimize potential...
, R1b drops behind R1a in the area in and around Hungary and Serbia but is more common both to the south and north of this region. R1b in Western Europe is dominated by at least two sub-clades, R-U106, which is distributed from the east side of the Rhine into northern and central Europe (with a presence in England) and R-P312, which is most common west of the Rhine, including the British IslesBritish IslesThe British Isles are a group of islands off the northwest coast of continental Europe that include the islands of Great Britain and Ireland and over six thousand smaller isles. There are two sovereign states located on the islands: the United Kingdom of Great Britain and Northern Ireland and...
.
- Haplogroup IHaplogroup I (Y-DNA)In human genetics, Haplogroup I is a Y-chromosome DNA haplogroup, a subgroup of haplogroup IJ, itself a derivative of Haplogroup IJK....
is found in the form of various sub-clades throughout Europe and is found at highest frequencies in Bosnia and HerzegovinaBosnia and HerzegovinaBosnia and Herzegovina , sometimes called Bosnia-Herzegovina or simply Bosnia, is a country in Southern Europe, on the Balkan Peninsula. Bordered by Croatia to the north, west and south, Serbia to the east, and Montenegro to the southeast, Bosnia and Herzegovina is almost landlocked, except for the...
, CroatiaCroatiaCroatia , officially the Republic of Croatia , is a unitary democratic parliamentary republic in Europe at the crossroads of the Mitteleuropa, the Balkans, and the Mediterranean. Its capital and largest city is Zagreb. The country is divided into 20 counties and the city of Zagreb. Croatia covers ...
, SwedenSwedenSweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....
, NorwayNorwayNorway , officially the Kingdom of Norway, is a Nordic unitary constitutional monarchy whose territory comprises the western portion of the Scandinavian Peninsula, Jan Mayen, and the Arctic archipelago of Svalbard and Bouvet Island. Norway has a total area of and a population of about 4.9 million...
, SardiniaSardiniaSardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...
, parts of GermanyGermanyGermany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
and other countries in the Balkan PeninsulaBalkansThe Balkans is a geopolitical and cultural region of southeastern Europe...
and ScandinaviaScandinaviaScandinavia is a cultural, historical and ethno-linguistic region in northern Europe that includes the three kingdoms of Denmark, Norway and Sweden, characterized by their common ethno-cultural heritage and language. Modern Norway and Sweden proper are situated on the Scandinavian Peninsula,...
. This clade is only found in Europe and may have been there since before the LGMLast Glacial MaximumThe Last Glacial Maximum refers to a period in the Earth's climate history when ice sheets were at their maximum extension, between 26,500 and 19,000–20,000 years ago, marking the peak of the last glacial period. During this time, vast ice sheets covered much of North America, northern Europe and...
. - Haplogroup R1a, almost entirely in the R1a1a sub-clade, is prevalent in much of centralCentral EuropeCentral Europe or alternatively Middle Europe is a region of the European continent lying between the variously defined areas of Eastern and Western Europe...
and eastern EuropeEastern EuropeEastern Europe is the eastern part of Europe. The term has widely disparate geopolitical, geographical, cultural and socioeconomic readings, which makes it highly context-dependent and even volatile, and there are "almost as many definitions of Eastern Europe as there are scholars of the region"...
(and also as far away as central AsiaCentral AsiaCentral Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north...
and the Indian subcontinentIndian subcontinentThe Indian subcontinent, also Indian Subcontinent, Indo-Pak Subcontinent or South Asian Subcontinent is a region of the Asian continent on the Indian tectonic plate from the Hindu Kush or Hindu Koh, Himalayas and including the Kuen Lun and Karakoram ranges, forming a land mass which extends...
). For example there is a sharp increase in R1a1 and decrease in R1b1b2 as one goes east from Germany to Poland. It also has a substantial presence in Scandinavia (particularly Norway), and some small pockets in Southern Europe, for example the Pas ValleyPas and Miera valleysThe Valleys of the Pas and Miera Rivers comprise an administrative comarca in Cantabria, Spain. It is formed by the valleys of said rivers, each one being a natural comarca of its own.-Pas valley:...
areas of VeniceVeniceVenice is a city in northern Italy which is renowned for the beauty of its setting, its architecture and its artworks. It is the capital of the Veneto region...
, and CalabriaCalabriaCalabria , in antiquity known as Bruttium, is a region in southern Italy, south of Naples, located at the "toe" of the Italian Peninsula. The capital city of Calabria is Catanzaro....
in ItalyItalyItaly , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
. In the Baltic countries R1a frequencies decrease from Lithuania (45%) to Estonia (around 30%).
Putting aside small enclaves there are also several haplogroups apart from the above three, which are most common in certain areas of Europe.
- Haplogroup NHaplogroup N (Y-DNA)In human genetics, Haplogroup N is a Y-chromosome DNA haplogroup, defined by the presence of the marker M231. The b2/b3 deletion in the AZFc region of the human Y-chromosome is a characteristic of Haplogroup N haplotypes. This deletion, however, appears to have occurred independently on four...
is common only in the northeast of Europe and in the form of its N1c1 sub-clade reaches frequencies of approximately 60% among Finns and approximately 40% among Lithuanians. This clade is also found far into the east in Siberia, Japan and China.
- Haplogroup E1b1b1, mainly in the form of its E1b1b1a2 (E-V13) sub-clade reaches frequencies above 40% around the area of KosovoKosovoKosovo is a region in southeastern Europe. Part of the Ottoman Empire for more than five centuries, later the Autonomous Province of Kosovo and Metohija within Serbia...
. This clade is thought to have arrived in Europe from western Asia either in the later Mesolithic, or the Neolithic.
- Haplogroup JHaplogroup J (Y-DNA)In human genetics, Haplogroup J is a Y-chromosome DNA haplogroup. It is one of the major male lines of all living men...
, in various sub-clades is found in levels of around 15-30% in parts of the Balkans and Italy.
X chromosome
In recent times it has been proposed that X chromosomeX chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
haplotypes are particularly useful for locating some of the oldest surviving lineages in humanity.
Human mitochondrial DNA haplogroups
Polygyny
Polygyny is a form of marriage in which a man has two or more wives at the same time. In countries where the practice is illegal, the man is referred to as a bigamist or a polygamist...
and patrilocality
Patrilocal residence
In social anthropology, patrilocal residence or patrilocality is a term referring to the social system in which a married couple resides with or near the husband's parents. The concept of location may extend to a larger area such as a village, town, or clan area...
. According to the University of Oulu
University of Oulu
The University of Oulu is one of the largest universities in Finland, located in the city of Oulu. It was founded on July 8, 1958. The university has around 16,000 students and 3,000 staff...
Library in Finland:
Classical polymorphic markers (i.e. blood groupsBlood typeA blood type is a classification of blood based on the presence or absence of inherited antigenic substances on the surface of red blood cells . These antigens may be proteins, carbohydrates, glycoproteins, or glycolipids, depending on the blood group system...
, protein electromorphs and HLA antigenes) have suggested that Europe is a genetically homogeneous continent with a few outliers such as the Saami, Sardinians, Icelanders and Basques (Cavalli-Sforza et al. 1993, Piazza 1993). The analysis of mtDNA sequences has also shown a high degree of homogeneity among European populations, and the genetic distances have been found to be much smaller than between populations on other continents, especially Africa (Comas et al. 1997).
The mtDNA haplogroups of Europeans are surveyed by using a combination of data from RFLP analysis of the coding regionCoding regionThe coding region of a gene, also known as the coding sequence or CDS, is that portion of a gene's DNA or RNA, composed of exons, that codes for protein. The region is bounded nearer the 5' end by a start codon and nearer the 3' end with a stop codon...
and sequencing of the hypervariable segment I. About 99% of European mtDNAs fall into one of ten haplogroups: H, I, J, K, M, T, U, V, W or X (Torroni et al. 1996a). Each of these is defined by certain relatively ancient and stable polymorphic sites located in the coding region (Torroni et al. 1996a)... Haplogroup H, which is defined by the absence of a AluI site at bp 7025, is the most prevalent, comprising half of all Europeans (Torroni et al. 1996a, Richards et al. 1998)... Six of the European haplogroups (H, I, J, K, T and W) are essentially confined to European populations (Torroni et al. 1994, 1996a), and probably originated after the ancestral Caucasoids became genetically separated from the ancestors of the modern Africans and Asians.
Ancient DNA
The genetic history of Europe has mostly been reconstructed from the modern populations of Europe, assuming genetic continuity. This is because it is far easier to retrieve DNA from living subjects than ancient human remainsBody
With regard to living things, a body is the physical body of an individual. "Body" often is used in connection with appearance, health issues and death...
. However, a small number of ancient mtDNA and Y-DNA analyses are available from both the historical and prehistoric periods.
Autosomal DNA
Seldin (2006) used over five thousand autosomal SNPs. It showed “a consistent and reproducible distinction between ‘northern’ and ‘southern’ European populationDemographics of Europe
Figures for the population of Europe vary according to which definition of European boundaries is used. The population within the standard physical geographical boundaries was 731 million in 2005 according to the United Nations. In 2010 the population is 857 million, using a definition which...
groups”. Most individual participants with southern Europe
Southern Europe
The term Southern Europe, at its most general definition, is used to mean "all countries in the south of Europe". However, the concept, at different times, has had different meanings, providing additional political, linguistic and cultural context to the definition in addition to the typical...
an ancestry (Italians
Italian people
The Italian people are an ethnic group that share a common Italian culture, ancestry and speak the Italian language as a mother tongue. Within Italy, Italians are defined by citizenship, regardless of ancestry or country of residence , and are distinguished from people...
, Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
, Portuguese
Portuguese people
The Portuguese are a nation and ethnic group native to the country of Portugal, in the west of the Iberian peninsula of south-west Europe. Their language is Portuguese, and Roman Catholicism is the predominant religion....
, Spaniards
Spanish people
The Spanish are citizens of the Kingdom of Spain. Within Spain, there are also a number of vigorous nationalisms and regionalisms, reflecting the country's complex history....
), and Ashkenazi Jews
Ashkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
have >85% membership in the ‘southern’ population; and most northern, western, central, and eastern Europeans (Swedes
Swedes
Swedes are a Scandinavian nation and ethnic group native to Sweden, mostly inhabiting Sweden and the other Nordic countries, with descendants living in a number of countries.-Etymology:...
, English
English people
The English are a nation and ethnic group native to England, who speak English. The English identity is of early mediaeval origin, when they were known in Old English as the Anglecynn. England is now a country of the United Kingdom, and the majority of English people in England are British Citizens...
, Irish
Irish people
The Irish people are an ethnic group who originate in Ireland, an island in northwestern Europe. Ireland has been populated for around 9,000 years , with the Irish people's earliest ancestors recorded having legends of being descended from groups such as the Nemedians, Fomorians, Fir Bolg, Tuatha...
, Germans
Germans
The Germans are a Germanic ethnic group native to Central Europe. The English term Germans has referred to the German-speaking population of the Holy Roman Empire since the Late Middle Ages....
, and Ukrainians
Ukrainians
Ukrainians are an East Slavic ethnic group native to Ukraine, which is the sixth-largest nation in Europe. The Constitution of Ukraine applies the term 'Ukrainians' to all its citizens...
) have >90% in the ‘northern’ population group. However, many of the participants in this study were actually American citizens who self-identified with different European ethnicities based on self-reported familial pedigree.
A similar study in 2007 using samples exclusively from Europe found that the most important genetic differentiation in Europe occurs on a line from the north to the south-east (northern Europe
Northern Europe
Northern Europe is the northern part or region of Europe. Northern Europe typically refers to the seven countries in the northern part of the European subcontinent which includes Denmark, Estonia, Latvia, Lithuania, Norway, Finland and Sweden...
to the Balkans), with another east-west axis of differentiation across Europe. Its findings were consistent with earlier results based on mtDNA and Y-chromosonal DNA that support the theory that modern Iberians (Spanish and Portuguese) hold the most ancient European genetic ancestry, as well as separating Basques and Sami from other European populations. It suggested that the English
English people
The English are a nation and ethnic group native to England, who speak English. The English identity is of early mediaeval origin, when they were known in Old English as the Anglecynn. England is now a country of the United Kingdom, and the majority of English people in England are British Citizens...
and Irish cluster with other Northern and Eastern Europeans such as Germans
Germans
The Germans are a Germanic ethnic group native to Central Europe. The English term Germans has referred to the German-speaking population of the Holy Roman Empire since the Late Middle Ages....
and Poles
Poles
thumb|right|180px|The state flag of [[Poland]] as used by Polish government and diplomatic authoritiesThe Polish people, or Poles , are a nation indigenous to Poland. They are united by the Polish language, which belongs to the historical Lechitic subgroup of West Slavic languages of Central Europe...
, while some Basque and Italian individuals also clustered with Northern Europeans. Despite these stratifications, it noted the unusually high degree of European homogeneity: "there is low apparent diversity in Europe with the entire continent-wide samples only marginally more dispersed than single population samples elsewhere in the world."
In 2008, two international research teams published analyses of large-scale genotyping of large samples of Europeans, using over 300,000 autosomal SNPs. With the exception of usual isolates such as Basques, Finns and Sardinians, the European population lacked sharp discontinuities (clustering) as previous studies have found (see Seldin et al. 2006 and Bauchett et al. 2007), although there was a discernible south to north gradient. Overall, they found only a low level of genetic differentiation between subpopulations, and differences which did exist were characterized by a strong continent-wide correlation between geographic and genetic distance. In addition, they found that diversity was greatest in southern Europe due a larger effective population size and/or population expansion
Population growth
Population growth is the change in a population over time, and can be quantified as the change in the number of individuals of any species in a population using "per unit time" for measurement....
from southern to northern Europe. The researchers take this observation to imply that genetically, Europeans are not distributed into discrete populations.
A study in May 2009 of 19 populations from Europe using 270,000 SNPs highlighted the genetic diversity or European populations corresponding to the northwest to southeast gradient and distinguished "four several distinct regions" within Europe:
- Finland, showing the greatest distance to the rest of Europeans.
- the Baltic regionBaltic regionThe terms Baltic region, Baltic Rim countries, and Baltic Rim refer to slightly different combinations of countries in the general area surrounding the Baltic Sea.- Etymology :...
(EstoniaEstoniaEstonia , officially the Republic of Estonia , is a state in the Baltic region of Northern Europe. It is bordered to the north by the Gulf of Finland, to the west by the Baltic Sea, to the south by Latvia , and to the east by Lake Peipsi and the Russian Federation . Across the Baltic Sea lies...
, LatviaLatviaLatvia , officially the Republic of Latvia , is a country in the Baltic region of Northern Europe. It is bordered to the north by Estonia , to the south by Lithuania , to the east by the Russian Federation , to the southeast by Belarus and shares maritime borders to the west with Sweden...
and LithuaniaLithuaniaLithuania , officially the Republic of Lithuania is a country in Northern Europe, the biggest of the three Baltic states. It is situated along the southeastern shore of the Baltic Sea, whereby to the west lie Sweden and Denmark...
), western RussiaRussiaRussia or , officially known as both Russia and the Russian Federation , is a country in northern Eurasia. It is a federal semi-presidential republic, comprising 83 federal subjects...
and eastern Poland. - Central and Western Europe.
- ItalyItalyItaly , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
, "with the southern Italians being more distant".
In this study, barrier analysis revealed "genetic barriers" between Finland, Italy and other countries and interestingly, barriers could also be demonstrated within Finland (between Helsinki and Kuusamo) and Italy (between northern and southern part, Fst= 0.0050). Fst (Fixation index) was found to correlate considerably with geographic distances ranging from ≤0.0010 for neighbouring populations to 0.0200-0.0230 for Southern Italy and Finland. For comparisons, pair-wise Fst of non-European samples were as follows: Europeans – Africans (Yoruba) 0.1530; Europeans – Chinese 0.1100; Africans (Yoruba) – Chinese 0.1900.
A study by Chao Tian in August 2009 extended the analysis of European population genetic structure to include additional southern European groups and Arab populations (Palestinians, Druzes...) from the Near-East. This study determined autosomal Fst between 18 population groups and concluded that, in general, genetic distances corresponded to geographical relationships with smaller values between population groups with origins in neighboring countries/regions (for example, Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
/Tuscans
Tuscany
Tuscany is a region in Italy. It has an area of about 23,000 square kilometres and a population of about 3.75 million inhabitants. The regional capital is Florence ....
: Fst = 0.0010, Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
/Palestinians: Fst = 0.0057) compared with those from very different regions in Europe (for example Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
/Swedish: Fst = 0.0087, Greeks
Greeks
The Greeks, also known as the Hellenes , are a nation and ethnic group native to Greece, Cyprus and neighboring regions. They also form a significant diaspora, with Greek communities established around the world....
/Russians
Russians
The Russian people are an East Slavic ethnic group native to Russia, speaking the Russian language and primarily living in Russia and neighboring countries....
: Fst = 0.0108).
Autosomal genetic distances (Fst) based on SNPs (2009)
The genetic distance between populations is often measured by Fixation index (Fst), based on genetic polymorphism data, such as single-nucleotide polymorphisms (SNPs) or microsatellites. Fst is a special case of F-statisticsF-statistics
In population genetics, F-statistics describe the level of heterozygosity in a population; more specifically the degree of a reduction in heterozygosity when compared to Hardy–Weinberg expectation...
, the concept developed in the 1920s by Sewall Wright
Sewall Wright
Sewall Green Wright was an American geneticist known for his influential work on evolutionary theory and also for his work on path analysis. With R. A. Fisher and J.B.S. Haldane, he was a founder of theoretical population genetics. He is the discoverer of the inbreeding coefficient and of...
. Fst is simply the correlation of randomly chosen alleles within the same sub-population relative to that found in the entire population. It is often expressed as the proportion of genetic diversity due to allele frequency differences among populations. The values range from 0 to 1. A zero value implies that the two populations are panmixis, that they are interbreeding freely. A value of one would imply that the two populations are completely separate. The greater the Fst value, the greater the genetic distance.
| Europe (CEU) | Sub-Saharan Africa (Yoruba) | East-Asia (Chinese) | |
|---|---|---|---|
| Europe (CEU) | 0.1530 | 0.1100 | |
| Sub-Saharan Africa (Yoruba) | 0.1530 | 0.1900 | |
| East-Asia (Chinese) | 0.1100 | 0.1900 |
|}
| Italians | Palestinians | Swedish | Finns | Spanish | Germans | Russians | French | Greeks | |
|---|---|---|---|---|---|---|---|---|---|
| Italians | 0.0064 | 0.0064-0.0090 | 0.0130-0.0230 | 0.0010-0.0050 | 0.0029-0.0080 | 0.0088-0.0120 | 0.0030-0.0050 | 0.0000 | |
| Palestinians | 0.0064 | 0.0191 | 0.0101 | 0.0136 | 0.0202 | 0.0057 | |||
| Swedish | 0.0064-0.0090 | 0.0191 | 0.0050-0.0110 | 0.0040-0055 | 0.0007-0.0010 | 0.0030-0.0036 | 0.0020 | 0.0084 | |
| Finns | 0.0130-0.0230 | 0.0050-0.0110 | 0.0110-0.0170 | 0.0060-0.0130 | 0.0060-0.0120 | 0.0080-0.0150 | |||
| Spanish | 0.0010-0.0050 | 0.0101 | 0.0040-0.0055 | 0.0110-0.0170 | 0.0015-0.0030 | 0.0070-0.0079 | 0.0010 | 0.0035 | |
| Germans | 0.0029-0.0080 | 0.0136 | 0.0007-0.0010 | 0.0060-0.0130 | 0.0015-0.0030 | 0.0030-0.0037 | 0.0010 | 0.0039 | |
| Russians | 0.0088-0.0120 | 0.0202 | 0.0030-0.0036 | 0.0060-0.0120 | 0.0070-0.0079 | 0.0030-0.0037 | 0.0050 | 0.0108 | |
| French | 0.0030-0.0050 | 0.0020 | 0.0080-0.0150 | 0.0010 | 0.0010 | 0.0050 | |||
| Greeks | 0.0000 | 0.0057 | 0.0084 | 0.0035 | 0.0039 | 0.0108 |
| Austria | Bulgaria | Czech Republic | Estonia | Finland (Helsinki) | Finland (Kuusamo) | France | Northern Germany | Southern Germany | Hungary | Northern Italy | Southern Italy | Latvia | Lithuania | Poland | Russia | Spain | Sweden | Switzerland | CEU | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Austria | 1.14 | 1.08 | 1.58 | 2.24 | 3.30 | 1.16 | 1.10 | 1.04 | 1.04 | 1.49 | 1.79 | 1.85 | 1.70 | 1.19 | 1.47 | 1.41 | 1.21 | 1.19 | 1.12 | Austria | |
| Bulgaria | 1.14 | 1.21 | 1.70 | 2.19 | 2.91 | 1.22 | 1.32 | 1.19 | 1.10 | 1.32 | 1.38 | 1.86 | 1.73 | 1.29 | 1.53 | 1.30 | 1.47 | 1.13 | 1.29 | Bulgaria | |
| Czech Republic | 1.08 | 1.21 | 1.42 | 2.20 | 3.26 | 1.35 | 1.15 | 1.16 | 1.06 | 1.69 | 2.04 | 1.62 | 1.48 | 1.09 | 1.27 | 1.63 | 1.26 | 1.37 | 1.21 | Czech Republic | |
| Estonia | 1.58 | 1.70 | 1.42 | 1.71 | 2.80 | 2.08 | 1.53 | 1.70 | 1.41 | 2.42 | 2.93 | 1.24 | 1.28 | 1.17 | 1.21 | 2.54 | 1.49 | 2.16 | 1.59 | Estonia | |
| Finland (Helsinki) | 2.24 | 2.19 | 2.20 | 1.71 | 1.86 | 2.69 | 2.17 | 2.35 | 1.87 | 2.82 | 3.37 | 2.31 | 2.33 | 1.75 | 2.10 | 3.14 | 1.89 | 2.77 | 1.99 | Finland (Helsinki) | |
| Finland (Kuusamo) | 3.30 | 2.91 | 3.26 | 2.80 | 1.86 | 3.72 | 3.27 | 3.46 | 2.68 | 3.64 | 4.18 | 3.33 | 3.37 | 2.49 | 3.16 | 4.21 | 2.87 | 3.83 | 2.89 | Finland (Kuusamo) | |
| France | 1.16 | 1.22 | 1.35 | 2.08 | 2.69 | 3.72 | 1.25 | 1.12 | 1.16 | 1.38 | 1.68 | 2.40 | 2.20 | 1.44 | 1.94 | 1.13 | 1.38 | 1.10 | 1.13 | France | |
| Northern Germany | 1.10 | 1.32 | 1.15 | 1.53 | 2.17 | 3.27 | 1.25 | 1.08 | 1.11 | 1.72 | 2.14 | 1.84 | 1.66 | 1.18 | 1.49 | 1.62 | 1.12 | 1.36 | 1.06 | Northern Germany | |
| Southern Germany | 1.04 | 1.19 | 1.16 | 1.70 | 2.35 | 3.46 | 1.12 | 1.08 | 1.08 | 1.53 | 1.85 | 1.20 | 1.84 | 1.23 | 1.58 | 1.40 | 1.21 | 1.17 | 1.07 | Southern Germany | |
| Hungary | 1.04 | 1.10 | 1.06 | 1.41 | 1.87 | 2.68 | 1.16 | 1.11 | 1.08 | 1.42 | 1.63 | 1.58 | 1.46 | 1.14 | 1.28 | 1.32 | 1.22 | 1.16 | 1.13 | Hungary | |
| Northern Italy | 1.49 | 1.32 | 1.69 | 2.42 | 2.82 | 3.64 | 1.38 | 1.72 | 1.53 | 1.42 | 1.54 | 2.64 | 2.48 | 1.75 | 2.24 | 1.42 | 1.86 | 1.36 | 1.56 | Northern Italy | |
| Southern Italy | 1.79 | 1.38 | 2.04 | 2.93 | 3.37 | 4.18 | 1.68 | 2.14 | 1.85 | 1.63 | 1.54 | 3.14 | 2.96 | 1.99 | 2.68 | 1.67 | 2.28 | 1.54 | 1.84 | Southern Italy | |
| Latvia | 1.85 | 1.86 | 1.62 | 1.24 | 2.31 | 3.33 | 2.40 | 1.84 | 1.20 | 1.58 | 2.64 | 3.14 | 1.20 | 1.26 | 1.32 | 2.82 | 1.89 | 2.52 | 1.87 | Latvia | |
| Lithuania | 1.70 | 1.73 | 1.48 | 1.28 | 2.33 | 3.37 | 2.20 | 1.66 | 1.84 | 1.46 | 2.48 | 2.96 | 1.20 | 1.20 | 1.26 | 2.62 | 1.74 | 2.29 | 1.74 | Lithuania | |
| Poland | 1.19 | 1.29 | 1.09 | 1.17 | 1.75 | 2.49 | 1.44 | 1.18 | 1.23 | 1.14 | 1.75 | 1.99 | 1.26 | 1.20 | 1.18 | 1.66 | 1.30 | 1.46 | 1.28 | Poland | |
| Russia | 1.47 | 1.53 | 1.27 | 1.21 | 2.10 | 3.16 | 1.94 | 1.49 | 1.58 | 1.28 | 2.24 | 2.68 | 1.32 | 1.26 | 1.18 | 2.32 | 1.59 | 1.20 | 1.56 | Russia | |
| Spain | 1.41 | 1.30 | 1.63 | 2.54 | 3.14 | 4.21 | 1.13 | 1.62 | 1.40 | 1.32 | 1.42 | 1.67 | 2.82 | 2.62 | 1.66 | 2.32 | 1.73 | 1.16 | 1.34 | Spain | |
| Sweden | 1.21 | 1.47 | 1.26 | 1.49 | 1.89 | 2.87 | 1.38 | 1.12 | 1.21 | 1.22 | 1.86 | 2.28 | 1.89 | 1.74 | 1.30 | 1.59 | 1.73 | 1.50 | 1.09 | Sweden | |
| Switzerland | 1.19 | 1.13 | 1.37 | 2.16 | 2.77 | 3.83 | 1.10 | 1.36 | 1.17 | 1.16 | 1.36 | 1.54 | 2.52 | 2.29 | 1.46 | 1.20 | 1.16 | 1.50 | 1.21 | Switzerland | |
| CEU | 1.12 | 1.29 | 1.21 | 1.59 | 1.99 | 2.89 | 1.13 | 1.06 | 1.07 | 1.13 | 1.56 | 1.84 | 1.87 | 1.74 | 1.28 | 1.56 | 1.34 | 1.09 | 1.21 | CEU | |
| Austria | Bulgaria | Czech Republic | Estonia | Finland (Helsinki) | Finland (Kuusamo) | France | Northern Germany | Southern Germany | Hungary | Northern Italy | Southern Italy | Latvia | Lithuania | Poland | Russia | Spain | Sweden | Switzerland | CEU | ||
Apparent migrations into Europe
The prehistoryPrehistory
Prehistory is the span of time before recorded history. Prehistory can refer to the period of human existence before the availability of those written records with which recorded history begins. More broadly, it refers to all the time preceding human existence and the invention of writing...
of the European peoples can be traced by the examination of archaeological
Archaeology
Archaeology, or archeology , is the study of human society, primarily through the recovery and analysis of the material culture and environmental data that they have left behind, which includes artifacts, architecture, biofacts and cultural landscapes...
sites, linguistic studies
Comparative linguistics
Comparative linguistics is a branch of historical linguistics that is concerned with comparing languages to establish their historical relatedness....
and by the examination of the DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
of the people who live in Europe or from ancient DNA. The research continues and so theories rise and fall. Although it is possible to track migrations of people across Europe using founder analysis of DNA, most information on these movements comes from archaeology. It is important to note that the colonization of Europe did not occur in discrete migrations, as might appear to be suggested. Rather, the settlement process was complex and "likely to have occurred in multiple (sic) waves from the east and to have been subsequently obscured by millennia of recurrent gene flow".
Palaeolithic Era
Homo neanderthalensisNeanderthal
The Neanderthal is an extinct member of the Homo genus known from Pleistocene specimens found in Europe and parts of western and central Asia...
inhabited much of Europe and western Asia from as far back as 130,000 years ago. They existed in Europe as late as 30,000 years ago. They were replaced by anatomically modern humans
Anatomically modern humans
The term anatomically modern humans in paleoanthropology refers to early individuals of Homo sapiens with an appearance consistent with the range of phenotypes in modern humans....
(A.M.H.), Cro-Magnoid
Cro-Magnon
The Cro-Magnon were the first early modern humans of the European Upper Paleolithic. The earliest known remains of Cro-Magnon-like humans are radiometrically dated to 35,000 years before present....
Homo sapiens
Human
Humans are the only living species in the Homo genus...
, who began to appear in Europe c. 40,000 years ago. Given that the two hominid species likely co-existed in Europe, anthropologists wondered whether the two interacted. Before the advent of genetic studies, some anthropologists believed they had discovered skeletons representing Neanderthal-modern human 'hybrids'. These results were deemed 'ambiguous'. Archaeological evidence points to an abrupt change from Neanderthal artefacts to those related to A.M.H. during the Upper Palaeolithic
Upper Paleolithic
The Upper Paleolithic is the third and last subdivision of the Paleolithic or Old Stone Age as it is understood in Europe, Africa and Asia. Very broadly it dates to between 40,000 and 10,000 years ago, roughly coinciding with the appearance of behavioral modernity and before the advent of...
. Y chromosomal and mtDNA data suggest that modern European DNA derives from Africa, which diverged less than 100,000 years ago, whereas the last common ancestor between the two species lived between 500,000 to 600,000 years ago. While it is conceivable that the autosomes of modern Europeans may retain Neanderthal sequences, Neanderthals were replaced by modern humans. Technological, economic and intellectual advantages not only allowed AMH to better adapt to the Upper Palaeolithic environment of Europe but probably also resulted in cultural and therefore biological barriers between the two species.
There has been speculation about the inheritance of specific genes from Neanderthals. For example one MAPT
Tau protein
Tau proteins are proteins that stabilize microtubules. They are abundant in neurons of the central nervous system and are less common elsewhere, but are also expressed at very low levels in CNS astrocytes and oligodendrocytes...
locus 17
Chromosome 17 (human)
125px|rightChromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3 % of the total DNA in cells.Identifying genes on each chromosome is an active area of...
q21.3 which is split into deep genetic lineages H1 and H2. Since the H2 lineage seems restricted to European populations, several authors have suggested inheritance from Neanderthals. However the preliminary results from the sequencing of the full Neanderthal Genome have shown no evidence of interbreeding between Neanderthals and modern humans.
The latest findings by Paabo, Richard E. Green of the University of California, Santa Cruz and David Reich of Harvard Medical School, comparing the genetic material from the bones of three Neanderthals with that from five modern humans, show a relationship between Neanderthals and modern people outside Africa. This suggests that interbreeding occurred in the Middle East.
It is thought that modern humans began to colonize Europe during the Upper Paleolithic about 40,000 years ago. Some evidence shows the spread of the Aurignacian culture
Aurignacian
The Aurignacian culture is an archaeological culture of the Upper Palaeolithic, located in Europe and southwest Asia. It lasted broadly within the period from ca. 45,000 to 35,000 years ago in terms of conventional radiocarbon dating, or between ca. 47,000 and 41,000 years ago in terms of the most...
. From a Y-chromosome perspective, Semino (2000) proposed that the large haplogroup R1 is an ancient Eurasiatic marker brought in by Homo sapiens who diffused west into Europe ~ 40 ky ago. Haplogroup I might represent another putative Palaeolithic marker whose age has been estimated to ~ 22 kYa. Whilst it is 'unique' to Europe, it probably arose in descendants of men arriving from the Middle East c. 20 - 25 kYa, arising from parent haplogroup IJ. At this time, another Upper Palaeolithic culture appears, the Gravettian culture
Gravettian
thumb|right|Burins to the Gravettian culture.The Gravettian toolmaking culture was a specific archaeological industry of the European Upper Palaeolithic era prevalent before the last glacial epoch. It is named after the type site of La Gravette in the Dordogne region of France where its...
. Thus the genetic data suggests that, from a male perspective, modern humans might have taken two colonising routes, one from the middle east via the Balkans and another from Central Asia to the north of the Black Sea
Black Sea
The Black Sea is bounded by Europe, Anatolia and the Caucasus and is ultimately connected to the Atlantic Ocean via the Mediterranean and the Aegean seas and various straits. The Bosphorus strait connects it to the Sea of Marmara, and the strait of the Dardanelles connects that sea to the Aegean...
. It is now believed that the haplogroup R1 is substantially younger: a 2008 study dated the most recent common ancestor of the haplogroup R1 by 18.5 kYa, and the most recent ancestor of the haplogroup IJ by 38.5 kYa, suggesting that haplogroup IJ colonists formed the first wave and haplogroup R1 arrived much later.
Martin Richards et al. found that 15 - 40% of extant mtDNA lineages trace back to the Palaeolithic migrations (depending on whether one allows for multiple founder events). MtDNA haplogroup U5, dated to be ~ 40 to 50 kYa, arrived during the first early upper Palaeolithic colonisation. Individually, it accounts for 5-15 % of total mtDNA lineages. Middle U.P. movements are marked by the haplogroups HV, I and U4. HV split into Pre-V (around 26,000 years old) and the larger branch H, both of which spread over Europe, possibly via Gravettian contacts. Haplogroup H
Haplogroup H (mtDNA)
In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA haplogroup that likely originated in Southwest Asia 25,000-30,000 YBP.-Origin:...
accounts for about half the gene lines in Europe, with many subgroups. The above mtDNA lineages or their precursors, are most likely to have arrived into Europe via the Middle East. This contrasts with Y DNA evidence, whereby some 50%+ of male lineages are characterized by the R1 superfamily, which is of possible central Asian origin. Semino postulates that these differences "may be due in part to the apparent more recent molecular age of Y chromosomes relative to other loci, suggesting more rapid replacement of previous Y chromosomes. Gender-based differential migratory demographic behaviors will also influence the observed patterns of mtDNA and Y variation".
Last Glacial Maximum: refugia and re-colonization
About 25,000 years ago the most recent very cold period (the Last Glacial Maximum, LGM) began, rendering much of Europe uninhabitable. According to the classical model much of northern and central Europe was vacated and people took refuge in climatic sanctuaries (or refugia) as follows:- Northern Iberia and Southwest FranceFranceThe French Republic , The French Republic , The French Republic , (commonly known as France , is a unitary semi-presidential republic in Western Europe with several overseas territories and islands located on other continents and in the Indian, Pacific, and Atlantic oceans. Metropolitan France...
, together making up the "Franco-Cantabrian" refugium. - The Balkans.
- UkraineUkraineUkraine is a country in Eastern Europe. It has an area of 603,628 km², making it the second largest contiguous country on the European continent, after Russia...
and more generally the northern coast of the Black Sea. - Italy
This event decreased the overall genetic diversity in Europe, a "result of drift, consistent with an inferred population bottleneck during the Last Glacial Maximum". As the glaciers receded from about 16,000-13,000 years ago, Europe began to be slowly repopulated by people from refugia, leaving genetic signatures.
Some Y haplogroup I clades appear to have diverged from their parental haplogroups sometime during or shortly after the LGM. Haplogroup I2 is prevalent in the western Balkans, as well as the rest of southeastern and central-eastern Europe in more moderate frequencies. Its frequency drops rapidly in central Europe, suggesting that the survivors bearing I2 lineages expanded predominantly through south-eastern and central-eastern Europe.
Cinnioglu sees evidence for the existence of an Anatolian refuge, which also harboured Hg R1b1b2. Today, R1b dominates the y chromosome landscape of western Europe and the British Isles, suggesting that there could have been large population composition changes based on migrations after the LGM.
Semino, Passarino and Pericic place the origins of haplogroup R1a within the Ukrainian ice-age
Ice age
An ice age or, more precisely, glacial age, is a generic geological period of long-term reduction in the temperature of the Earth's surface and atmosphere, resulting in the presence or expansion of continental ice sheets, polar ice sheets and alpine glaciers...
refuge. Its current distribution in eastern Europe and parts of Scandinavia are in part reflective of a re-peopling of Europe from the southern Russian/Ukrainian steppes during the Late Glacial Maximum.
From an mtDNA perspective, Richards et al. found that the majority of mtDNA diversity in Europe is accounted for by post-glacial re-expansions during the late upper Palaeolithic/ Mesolithic. "The regional analyses lend some support to the suggestion that much of western and central Europe was repopulated largely from the southwest when the climate improved. The lineages involved include much of the most common haplogroup, H, as well as much of K, T, W, and X." The study could not determine whether there were new migrations of mtDNA lineages from the near east during this period; a significant input was deemed unlikely.
The alternative model of more refugees was discussed by Bilton et al.
Neolithic migrations
A big cline in genetic variation which has long been recognized in Europe seems to show important dispersals from the direction of the Middle East. This has often been linked to the spread of farming technology during the Neolithic, which has been argued to be one of the most important periods in determining modern Europen genetic diversity.The duration of the Neolithic varied from place to place, starting with the introduction of farming and ending with the introduction of bronze implements. In SE Europe it was approximately 7000-3000 BC while in NW Europe 4500-1700 BC. During this era, the Neolithic revolution led to drastic economic as well as socio-cultural changes in Europe and this is also thought to have had a big effect on Europe's genetic diversity, especially concerning genetic lineages entering Europe from the Middle East into the Balkans. There were several phases of this period:
- In a late European Mesolithic prelude to the Neolithic it appears that Near Eastern peoples from areas which already had farming and who also had sea-faring technology, had a transient presence in Greece, for example at Franchthi CaveFranchthi CaveFranchthi cave in the Peloponnese, in the southeastern Argolid, is a cave overlooking the Argolic Gulf opposite the Greek village of Koilada....
. - There is consensus that agricultural technologyAgricultural machineryAgricultural machinery is machinery used in the operation of an agricultural area or farm.-Hand tools:The first person to turn from the hunting and gathering lifestyle to farming probably did so by using his bare hands, and perhaps some sticks or stones. Tools such as knives, scythes, and wooden...
and the main breeds of animals and plants which are farmed entered Europe from somewhere in the area of the Fertile CrescentFertile CrescentThe Fertile Crescent, nicknamed "The Cradle of Civilization" for the fact the first civilizations started there, is a crescent-shaped region containing the comparatively moist and fertile land of otherwise arid and semi-arid Western Asia. The term was first used by University of Chicago...
and specifically the LevantLevantThe Levant or ) is the geographic region and culture zone of the "eastern Mediterranean littoral between Anatolia and Egypt" . The Levant includes most of modern Lebanon, Syria, Jordan, Israel, the Palestinian territories, and sometimes parts of Turkey and Iraq, and corresponds roughly to the...
region from the SinaiSinai PeninsulaThe Sinai Peninsula or Sinai is a triangular peninsula in Egypt about in area. It is situated between the Mediterranean Sea to the north, and the Red Sea to the south, and is the only part of Egyptian territory located in Asia as opposed to Africa, effectively serving as a land bridge between two...
to Southern Anatolia (Less certainly, this agricultural revolutionNeolithic RevolutionThe Neolithic Revolution was the first agricultural revolution. It was the transition from hunting and gathering to agriculture and settlement. Archaeological data indicates that various forms of plants and animal domestication evolved independently in 6 separate locations worldwide circa...
is sometimes argued to have in turn been partly triggered by movements of people and technology coming across the Sinai from Africa.) - A later stage of the Neolithic, the so-called Pottery NeolithicNeolithicThe Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
, saw an introduction of potteryPotteryPottery is the material from which the potteryware is made, of which major types include earthenware, stoneware and porcelain. The place where such wares are made is also called a pottery . Pottery also refers to the art or craft of the potter or the manufacture of pottery...
into the Levant, Balkans and Southern Italy (it had been present in the area of modern Sudan for some time before it is found in the Eastern MediterraneanEastern MediterraneanThe Eastern Mediterranean is a term that denotes the countries geographically to the east of the Mediterranean Sea. This region is also known as Greater Syria or the Levant....
but it is thought to have developed independently) and this may have also been a period of cultural transfer from the Levant into the Balkans.
An important issue regarding the genetic impact of neolithic technologies in Europe is the manner by which they were transferred into Europe; whether farming was introduced by a significant migration of farmers from the Near East (Cavalli-Sforza's biological demic diffusion
Demic diffusion
Demic diffusion is a demographic term referring to a migratory model developed by Cavalli-Sforza, that consists of population diffusion into and across an area previously uninhabited by that group, possibly, but not necessarily, displacing, replacing, or intermixing with a pre-existing population...
model) or a "cultural diffusion" or a combination of the two. Secondarily, population geneticists have tried to clarify whether any genetic signatures of Near Eastern origin correspond to the expansion routes postulated by the archaeological evidence.
Martin Richards estimated that only 11% of European mtDNA is due to immigration in this period, suggesting that farming was spread primarily due to being adopted by indigenous Mesolithic populations, rather than due to immigration from Near East. Gene flow from SE to NW Europe seems to have continued in the Neolithic, the percentage significantly declining towards the British Isles. Classical genetics
Classical genetics
Classical genetics consists of the technique and methodologies of genetics that predate the advent of molecular biology. A key discovery of classical genetics in eukaryotes was genetic linkage...
also suggested that the largest admixture to the European Paleolithic/Mesolithic stock was due to the Neolithic revolution
Neolithic Revolution
The Neolithic Revolution was the first agricultural revolution. It was the transition from hunting and gathering to agriculture and settlement. Archaeological data indicates that various forms of plants and animal domestication evolved independently in 6 separate locations worldwide circa...
of the 7th to 5th millennia BC. Three main mtDNA gene groups have been identified as contributing Neolithic entrants into Europe: J, T1 and U3 (in that order of importance). With others they amount up to around 20% of the gene pool
Gene pool
In population genetics, a gene pool is the complete set of unique alleles in a species or population.- Description :A large gene pool indicates extensive genetic diversity, which is associated with robust populations that can survive bouts of intense selection...
.
In 2000, Semino's study on Y DNA revealed the presence of haplotypes belonging to the large clade E1b1b1 (E-M35). These were predominantly found in the southern Balkans, southern Italy and parts of Iberia. Semino connected this pattern, along with J haplogroup subclades, to be the Y-DNA component of Cavalli-Sforza's Neolithic demic-diffusion of farmers from the Near East. Rosser et al. rather saw it as a (direct) 'North African component' in European genealogy, although they did not propose a timing and mechanism to account for it. also described E1b1b as representing a late-Pleistocene
Pleistocene
The Pleistocene is the epoch from 2,588,000 to 11,700 years BP that spans the world's recent period of repeated glaciations. The name pleistocene is derived from the Greek and ....
migration from Africa to Europe over the Sinai Peninsula
Sinai Peninsula
The Sinai Peninsula or Sinai is a triangular peninsula in Egypt about in area. It is situated between the Mediterranean Sea to the north, and the Red Sea to the south, and is the only part of Egyptian territory located in Asia as opposed to Africa, effectively serving as a land bridge between two...
in Egypt
Egypt
Egypt , officially the Arab Republic of Egypt, Arabic: , is a country mainly in North Africa, with the Sinai Peninsula forming a land bridge in Southwest Asia. Egypt is thus a transcontinental country, and a major power in Africa, the Mediterranean Basin, the Middle East and the Muslim world...
, evidence for which does not show up in mitochondrial DNA.
Mesolithic
The Mesolithic is an archaeological concept used to refer to certain groups of archaeological cultures defined as falling between the Paleolithic and the Neolithic....
technologies. They then suggest that the E-V13 sub-clade of E-M78 only expanded subsequently as native Balkan 'foragers-cum-farmers' adopted Neolithic technologies from the Near East. They propose that the first major dispersal of E-V13 from the Balkans may have been in the direction of the Adriatic Sea
Adriatic Sea
The Adriatic Sea is a body of water separating the Italian Peninsula from the Balkan peninsula, and the system of the Apennine Mountains from that of the Dinaric Alps and adjacent ranges...
with the Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
Impressed Ware
Cardium Pottery
Cardium Pottery or Cardial Ware is a Neolithic decorative style that gets its name from the imprinting of the clay with the shell of the Cardium edulis, a marine mollusk...
culture often referred to as Impressa or Cardial
Cardium Pottery
Cardium Pottery or Cardial Ware is a Neolithic decorative style that gets its name from the imprinting of the clay with the shell of the Cardium edulis, a marine mollusk...
. , rather propose that the main route of E-V13 spread was along the Vardar-Morava-Danube river 'highway' system.
In contrast to Battaglia, suggest (i) a different point of V-13 origin and (ii) a later dispersal time. Cruciani argues that V-13 arose in western Asia, where it is found in low but significant frequencies, from whence it entered the Balkans sometime after 11 kYa. It later experienced a rapid dispersal which he dated to c. 5300 years ago in Europe, coinciding with the Balkan Bronze Age. Like Peričic et al. they consider that "the dispersion of the E-V13 and J-M12 haplogroups seems to have mainly followed the river waterways connecting the southern Balkans to north-central Europe".
Most likely, the demographic history of V13 is complex, as later population movements further amplified it's frequency in the Europe. (See below.)
After an initial focus upon E1b1b as a Neolithic marker, a more recent study in January 2010, looked at Y haplogroup R1b1b, which is much more common in Western Europe
Western Europe
Western Europe is a loose term for the collection of countries in the western most region of the European continents, though this definition is context-dependent and carries cultural and political connotations. One definition describes Western Europe as a geographic entity—the region lying in the...
. Mark Jobling said: "We focused on the commonest Y-chromosome lineage in Europe, carried by about 110 million men, it follows a gradient from south-east to north-west, reaching almost 100% frequency in Ireland. We looked at how the lineage is distributed, how diverse it is in different parts of Europe, and how old it is." The results suggested that the lineage R1b1b2 (R-M269)
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....
, like E1b1b or J
Haplogroup J (Y-DNA)
In human genetics, Haplogroup J is a Y-chromosome DNA haplogroup. It is one of the major male lines of all living men...
lineages, spread together with farming from the Near East. Dr Patricia Balaresque added: "In total, this means that more than 80% of European Y chromosomes descend from incoming farmers. In contrast, most maternal genetic lineages seem to descend from hunter-gatherers. To us, this suggests a reproductive advantage for farming males over indigenous hunter-gatherer males during the switch from hunting and gathering, to farming".
A more recent article concerning R1b made the counter claim that "the data are still controversial and the analyses so far performed are prone to a number of biases" and presented some evidence that R1b was also part of "an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool".
Bronze and Iron Age migrations
The Bronze AgeBronze Age
The Bronze Age is a period characterized by the use of copper and its alloy bronze as the chief hard materials in the manufacture of some implements and weapons. Chronologically, it stands between the Stone Age and Iron Age...
saw the development of long-distance trading network
Trade
Trade is the transfer of ownership of goods and services from one person or entity to another. Trade is sometimes loosely called commerce or financial transaction or barter. A network that allows trade is called a market. The original form of trade was barter, the direct exchange of goods and...
s, particularly along the Atlantic Coast and in the Danube valley. There was migration from Norway to Orkney and Shetland in this period (and to a lesser extent to mainland Scotland and Ireland). There was also migration from Germany to eastern England
East of England
The East of England is one of the nine official regions of England. It was created in 1994 and was adopted for statistics from 1999. It includes the ceremonial counties of Essex, Hertfordshire, Bedfordshire, Cambridgeshire, Norfolk and Suffolk. Essex has the highest population in the region.Its...
. Martin Richards estimated that there was about 4% mtDNA immigration to Europe in the Bronze Age.
One theory about the origin of the Indo-European language
Indo-European languages
The Indo-European languages are a family of several hundred related languages and dialects, including most major current languages of Europe, the Iranian plateau, and South Asia and also historically predominant in Anatolia...
centres around a hypothetical Proto-Indo-European
Proto-Indo-Europeans
The Proto-Indo-Europeans were the speakers of the Proto-Indo-European language , a reconstructed prehistoric language of Eurasia.Knowledge of them comes chiefly from the linguistic reconstruction, along with material evidence from archaeology and archaeogenetics...
people, who are traced, in the Kurgan hypothesis
Kurgan hypothesis
The Kurgan hypothesis is one of the proposals about early Indo-European origins, which postulates that the people of an archaeological "Kurgan culture" in the Pontic steppe were the most likely speakers of the Proto-Indo-European language...
, to somewhere north of the Black and Caspian Seas at about 4500 BC
5th millennium BC
The 5th millennium BC saw the spread of agriculture from the Near East throughout southern and central Europe.Urban cultures in Mesopotamia and Anatolia flourished, developing the wheel. Copper ornaments became more common, marking the Chalcolithic. Animal husbandry spread throughout Eurasia,...
. They domesticated the horse
Domestication of the horse
There are a number of hypotheses on many of the key issues regarding the domestication of the horse. Although horses appeared in Paleolithic cave art as early as 30,000 BCE, these were truly wild horses and were probably hunted for meat. How and when horses became domesticated is disputed...
and possibly invented the wheel
Wheel
A wheel is a device that allows heavy objects to be moved easily through rotating on an axle through its center, facilitating movement or transportation while supporting a load, or performing labor in machines. Common examples found in transport applications. A wheel, together with an axle,...
, and are considered to have spread their culture and genes across Europe. The Y haplogroup R1a is a proposed marker of these "Kurgan" genes, although the haplogroup as a whole may be much older than the language family. The rate of their physical expansion would have declined at the western edge of the steppe
Steppe
In physical geography, steppe is an ecoregion, in the montane grasslands and shrublands and temperate grasslands, savannas, and shrublands biomes, characterized by grassland plains without trees apart from those near rivers and lakes...
, but carriers of the R1a haplogroup are present in substantial numbers as far west as Germany. The Kurgan culture and language went farther, eventually replacing most cultures and languages all the way to the Atlantic. Another hypothesis — the Anatolian hypothesis
Anatolian hypothesis
The Anatolian hypothesis is also called Renfrew's Neolithic Discontinuity Theory ; it proposes that the dispersal of Proto-Indo-Europeans originated in Neolithic Anatolia...
— suggests an origin in Anatolia with a later expansion from eastern Europe.
To what extent Indo-European migrations replaced the indigenous Mesolithic
Mesolithic
The Mesolithic is an archaeological concept used to refer to certain groups of archaeological cultures defined as falling between the Paleolithic and the Neolithic....
peoples is debated.
During the Iron Age, Celts are recorded as having moved from Gaul
Gaul
Gaul was a region of Western Europe during the Iron Age and Roman era, encompassing present day France, Luxembourg and Belgium, most of Switzerland, the western part of Northern Italy, as well as the parts of the Netherlands and Germany on the left bank of the Rhine. The Gauls were the speakers of...
into northern Italy
Northern Italy
Northern Italy is a wide cultural, historical and geographical definition, without any administrative usage, used to indicate the northern part of the Italian state, also referred as Settentrione or Alta Italia...
, Eastern Europe and Anatolia. The relationship between the Celts of Gaul and Spain is unclear as any migration occurred before records exist.
In the far north, carriers of the haplogroup N
Haplogroup N (Y-DNA)
In human genetics, Haplogroup N is a Y-chromosome DNA haplogroup, defined by the presence of the marker M231. The b2/b3 deletion in the AZFc region of the human Y-chromosome is a characteristic of Haplogroup N haplotypes. This deletion, however, appears to have occurred independently on four...
arrived to Europe from Siberia
Siberia
Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
at some point, eventually expanding as far as Finland
Finland
Finland , officially the Republic of Finland, is a Nordic country situated in the Fennoscandian region of Northern Europe. It is bordered by Sweden in the west, Norway in the north and Russia in the east, while Estonia lies to its south across the Gulf of Finland.Around 5.4 million people reside...
, though the specific timing of their arrival is uncertain. The most common North European subclade N1c1 is estimated to be around 8,000 years old. There is evidence of human settlement in Finland dating back to 8500 BCE, linked with Kunda culture
Kunda culture
Kunda Culture, with its roots in Swiderian culture is a mesolithic hunter-gatherer communities of the Baltic forest zone extending eastwards through Latvia into northern Russia dating to the period 8000–5000 BC by calibrated radiocarbon dating...
and its putative ancestor Swiderian culture
Swiderian culture
Swiderian culture, also published in English literature as Sviderian and Swederian, is the name of Final Palaeolithic cultural complexes in Poland and the surrounding areas. The type-site is Świdry Wielkie, in Otwock. The Swiderian is recognized as a distinctive culture that developed on the sand...
, but the latter is thought to have European origin. The geographical spread of haplogroup N in Europe is well aligned with the Pit–Comb Ware culture, whose emergence is commonly dated circa 4200 BCE, and with the distribution of Uralic languages
Uralic languages
The Uralic languages constitute a language family of some three dozen languages spoken by approximately 25 million people. The healthiest Uralic languages in terms of the number of native speakers are Hungarian, Finnish, Estonian, Mari and Udmurt...
. Mitochondrial DNA studies of Sami people
Sami people
The Sami people, also spelled Sámi, or Saami, are the arctic indigenous people inhabiting Sápmi, which today encompasses parts of far northern Sweden, Norway, Finland, the Kola Peninsula of Russia, and the border area between south and middle Sweden and Norway. The Sámi are Europe’s northernmost...
are consistent with multiple migrations to Scandinavia
Scandinavia
Scandinavia is a cultural, historical and ethno-linguistic region in northern Europe that includes the three kingdoms of Denmark, Norway and Sweden, characterized by their common ethno-cultural heritage and language. Modern Norway and Sweden proper are situated on the Scandinavian Peninsula,...
from Volga-Ural
Ural
Ural may refer to one of the following:*Ural Mountains*Ural *Ural River*Ural Federal District*Ural economic region*Urals oil, a reference oil brand*Ural Automotive Plant*Ural-4320, Ural-375D and Ural-5323, Soviet and Russian military trucks...
region, starting 6,000 to 7,000 years before present. The relationship between roles of European and Asian colonists in the prehistory of Finland is a point of some contention, and some scholars insist that Finns are "predominantly Eastern European and made up of people who trekked north from the Ukrainian refuge during the Ice Age". Further east, the issue is less contentious. Haplogroup N carriers account for a significant part of all non-Slavic ethnic groups in northern Russia
Russia
Russia or , officially known as both Russia and the Russian Federation , is a country in northern Eurasia. It is a federal semi-presidential republic, comprising 83 federal subjects...
, including 37% of Karelians
Karelians
The Karelians are a Baltic-Finnic ethnic group living mostly in the Republic of Karelia and in other north-western parts of the Russian Federation. The historic homeland of Karelians includes also parts of present-day Eastern Finland and the formerly Finnish territory of Ladoga Karelia...
, 35% of Komi people, 67% of Mari people, as many as 98% of Nenets people
Nenets people
The Nenets are an indigenous people in Russia. According to the latest census in 2002, there are 41,302 Nenets in the Russian Federation, most of them living in the Yamalo-Nenets Autonomous Okrug and Nenets Autonomous Okrug...
, 94% of Nganasans, and 86% to 94% of Yakuts
Yakuts
Yakuts , are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages....
.
Roman and post-Roman period
During the period of the Roman EmpireRoman Empire
The Roman Empire was the post-Republican period of the ancient Roman civilization, characterised by an autocratic form of government and large territorial holdings in Europe and around the Mediterranean....
, historical sources show that there were many movements of people around Europe, both within and outside the Empire. Historic sources sometimes cite instances of genocide incited by the Romans upon rebellious provincial tribes. If this did in fact occur, it would have been limited given that modern populations show considerable genetic continuity in their respective regions. The process of 'romanization
Romanization (cultural)
Romanization or latinization indicate different historical processes, such as acculturation, integration and assimilation of newly incorporated and peripheral populations by the Roman Republic and the later Roman Empire...
' appears to have been accomplished by the colonization of provinces by a few Latin speaking administrators, military personnel
Soldier
A soldier is a member of the land component of national armed forces; whereas a soldier hired for service in a foreign army would be termed a mercenary...
and private citizens (merchants, traders) who emanated from the Empire's various regions (and not merely the Italian peninsula
Italian Peninsula
The Italian Peninsula or Apennine Peninsula is one of the three large peninsulas of Southern Europe , spanning from the Po Valley in the north to the central Mediterranean Sea in the south. The peninsula's shape gives it the nickname Lo Stivale...
). They served as a nucleus for the acculturation of local notables. Given their small numbers and varied origins, Romanization does not appear to have left distinct genetic signatures in Europe. Indeed, Romance-speaking populations in the Balkans have been found to genetically resemble neighbouring Greek and Slavic-speaking peoples rather than modern Italians.
Steven Bird has speculated that E1b1b1a was spread during the Roman era from Italy and the Balkans into the rest of Europe.
Concerning the late Roman period of Germanic
Germanic
Germanic may refer to* The Germanic languages, descended from Proto-Germanic.* The Germanic peoples**List of Germanic peoples**List of confederations of Germanic tribes* German people* Germanic mythology...
"Völkerwanderung ", some suggestions have been made, at least for Britain, with Y haplogroup I1a being associated with Anglo-Saxon
Anglo-Saxon
Anglo-Saxon may refer to:* Anglo-Saxons, a group that invaded Britain** Old English, their language** Anglo-Saxon England, their history, one of various ships* White Anglo-Saxon Protestant, an ethnicity* Anglo-Saxon economy, modern macroeconomic term...
immigration in eastern England, and R1a being associated with Norse immigration in northern Scotland.
See also
- Y-DNA haplogroups by groups in EuropeY-DNA haplogroups by groups in Europe-Frequencies in some ethnic groups in Europe:Listed here are notable groups and ethnic groups from Europe by human Y-chromosome DNA haplogroups based on relevant studies...
- African admixture in EuropeAfrican admixture in EuropeAfrican admixture in Europe refers to the Eurasian presence of Human genetic polymorphisms, which are considered to be evidence for movements of people from Africa to Eurasia in both the prehistoric and historic past.-Geographical influences:...
- ArchaeogeneticsArchaeogeneticsArchaeogenetics, a term coined by Colin Renfrew, refers to the application of the techniques of molecular population genetics to the study of the human past. This can involve:*the analysis of DNA recovered from archaeological remains, i.e...
- Timeline of human evolutionTimeline of human evolutionThe timeline of human evolution outlines the major events in the development of human species, and the evolution of humans' ancestors. It includes a brief explanation of some animals, species or genera, which are possible ancestors of Homo sapiens...
- Archaeogenetics of the Near EastArchaeogenetics of the Near EastThe archaeogenetics of the Near East involves the study of aDNA or ancient DNA, identifying haplogroups and haplotypes of ancient skeletal remains from both YDNA and mtDNA for populations of the Ancient Near East The archaeogenetics of the Near East involves the study of aDNA or ancient DNA,...
- European ethnic groups
- Human genetic variationHuman genetic variationHuman genetic variation refers to genetic differences both within and among populations. There may be multiple variants of any given gene in the human population , leading to polymorphism. Many genes are not polymorphic, meaning that only a single allele is present in the population: that allele is...
- Population geneticsPopulation geneticsPopulation genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
- Genetic history of indigenous peoples of the Americas
- Genetics and archaeogenetics of South AsiaGenetics and archaeogenetics of South AsiaThe study of the genetics and archaeogenetics of the ethnic groups of South Asia aims at uncovering these groups' genetic history. The geographic position of India makes Indian populations important for the study of the early dispersal of all human populations on the Eurasian continent.The Indian...
External links
- International Society of Genetic Genealogy - 2009 tree of haplogroup R
- Journal of Genetic Genealogy - We Are Not Our Ancestors: Evidence for Discontinuity between Prehistoric and Modern Europeans
- Atlas of the Human Journey
- World Haplogroups Maps
- Origins of Europeans
- Genetic Structure of Human Populations.
- Haplotype R1b
- Haplogroup R1b