West Eurasians
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The Genetic history of Europe deals with the formation, ethnogenesis, and other DNA-specific information about populations indigenous, or living in Europe. The most significant recent dispersal of modern humans from Africa gave rise to an undifferentiated " non-African" lineage by some 70–50 ka (70-50,000 years ago). By about 50–40 ka a West Eurasian lineage had emerged, as had a separate
East Eurasian Eurasia (, ) is the largest continental area on Earth, comprising all of Europe and Asia. Primarily in the Northern and Eastern Hemispheres, it spans from the British Isles and the Iberian Peninsula in the west to the Japanese archipelago ...
lineage. Both East and West Eurasians acquired Neanderthal admixture in Europe and Asia.
European early modern humans Early European modern humans (EEMH), or Cro-Magnons, were the first early modern humans (''Homo sapiens'') to settle in Europe, migrating from Western Asia, continuously occupying the continent possibly from as early as 56,800 years ago. They ...
(EEMH) lineages between 40 and 26 ka (
Aurignacian The Aurignacian () is an archaeological industry of the Upper Paleolithic associated with European early modern humans (EEMH) lasting from 43,000 to 26,000 years ago. The Upper Paleolithic developed in Europe some time after the Levant, where t ...
) were still part of a large Western Eurasian "meta-population", related to Central and Western Asian populations. Divergence into genetically distinct sub-populations within Western Eurasia is a result of increased selection pressure and
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 ...
s during the
Last Glacial Maximum The Last Glacial Maximum (LGM), also referred to as the Late Glacial Maximum, was the most recent time during the Last Glacial Period that ice sheets were at their greatest extent. Ice sheets covered much of Northern North America, Northern Eur ...
(LGM, Gravettian). By the end of the LGM, after 20 ka, A Western European lineage, dubbed
West European Hunter-Gatherer In archaeogenetics, the term Western Hunter-Gatherer (WHG), West European Hunter-Gatherer or Western European Hunter-Gatherer names a distinct ancestral component of modern Europeans, representing descent from a population of Mesolithic hunter-gat ...
(WHG) emerges from the Solutrean refugium during the
European Mesolithic The Mesolithic (Greek: μέσος, ''mesos'' 'middle' + λίθος, ''lithos'' 'stone') or Middle Stone Age is the Old World archaeological period between the Upper Paleolithic and the Neolithic. The term Epipaleolithic is often used synonymous ...
. These mesolithic hunter-gatherer cultures are substantially replaced in the
Neolithic Revolution The Neolithic Revolution, or the (First) Agricultural Revolution, was the wide-scale transition of many human cultures during the Neolithic period from a lifestyle of hunting and gathering to one of agriculture and settlement, making an incre ...
by the arrival of Early European Farmers (EEF) lineages derived from mesolithic populations of West Asia ( Anatolia and the Caucasus). In the European Bronze Age, there were again substantial population replacements in parts of Europe by the intrusion of Ancient North Eurasian (ANE) lineages from the Pontic–Caspian steppes, being deeply related to Mesolithic European hunter-gatherers. These Bronze Age population replacements are associated with the
Bell Beaker The Bell Beaker culture, also known as the Bell Beaker complex or Bell Beaker phenomenon, is an archaeological culture named after the inverted-bell beaker drinking vessel used at the very beginning of the European Bronze Age. Arising from ar ...
and Corded Ware cultures archaeologically and with the Indo-European expansion linguistically. As a result of the population movements during the Mesolithic to Bronze Age, modern European populations are distinguished by differences in WHG, EEF and ANE ancestry. Admixture rates varied geographically; in the late Neolithic, WHG ancestry in farmers in Hungary was at around 10%, in Germany around 25% and in Iberia as high as 50%. The contribution of EEF is more significant in Mediterranean Europe, and declines towards northern and northeastern Europe, where WHG ancestry is stronger; the Sardinians are considered to be the closest European group to the population of the EEF. ANE ancestry is found throughout Europe, with maxima of about 20% found in Baltic people and Finns. Ethnogenesis of the modern
ethnic groups of Europe Europeans are the focus of European ethnology, the field of anthropology related to the various ethnic groups that reside in the states of Europe. Groups may be defined by common genetic ancestry, common language, or both. Pan and Pfeil (2004) ...
in the
historical period Human history, also called world history, is the narrative of humanity's past. It is understood and studied through anthropology, archaeology, genetics, and linguistics. Since the invention of writing, human history has been studied through ...
is associated with numerous admixture events, primarily those associated with the Roman, Germanic, Norse, Slavic,
Berber Berber or Berbers may refer to: Ethnic group * Berbers, an ethnic group native to Northern Africa * Berber languages, a family of Afro-Asiatic languages Places * Berber, Sudan, a town on the Nile People with the surname * Ady Berber (1913–196 ...
, Arab and
Turkish Turkish may refer to: *a Turkic language spoken by the Turks * of or about Turkey ** Turkish language *** Turkish alphabet ** Turkish people, a Turkic ethnic group and nation *** Turkish citizen, a citizen of Turkey *** Turkish communities and mi ...
expansions. Research into the genetic history of Europe became possible in the second half of the 20th century, but did not yield results with high resolution before the 1990s. In the 1990s, preliminary results became possible, but they remained mostly limited to studies of
mitochondrial A mitochondrion (; ) is an organelle found in the cells of most Eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is use ...
and
Y-chromosomal The Y chromosome is one of two sex chromosomes ( allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence o ...
lineages.
Autosomal DNA An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...
became more easily accessible in the 2000s, and since the mid-2010s, results of previously unattainable resolution, many of them based on full-genome analysis of ancient DNA, have been published at an accelerated pace.


Prehistory

Due to natural selection, the percentage of Neanderthal DNA in ancient Europeans gradually decreased over time. From 45,000 BP to 7,000 BP, the percentage dropped from around 3–6% to 2%. The removal of Neanderthal-derived alleles occurred more frequently around genes than other parts of the genome.


Palaeolithic

Neanderthals 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 eventually replaced by anatomically modern humans (AMH; sometimes known as
Cro-Magnon Early European modern humans (EEMH), or Cro-Magnons, were the first early modern humans (''Homo sapiens'') to settle in Europe, migrating from Western Asia, continuously occupying the continent possibly from as early as 56,800 years ago. They ...
s), who began to appear in Europe circa 40,000 years ago. Given that the two hominid species likely coexisted in Europe, anthropologists have long wondered whether the two interacted.Even 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 AMH during the Upper Palaeolithic. The question was resolved only in 2010, when it was established that Eurasian populations exhibit Neanderthal admixture, estimated at 1.5–2.1% on average. The question now became whether this admixture had taken place in Europe, or rather in the Levant, prior to AMH migration into Europe. There has also been speculation about the inheritance of specific genes from Neanderthals. For example, one MAPT locus 17q21.3 which is split into deep genetic lineages H1 and H2. Since the H2 lineage seems restricted to European populations, several authors had argued for inheritance from Neanderthals beginning in 2005. However the preliminary results from the sequencing of the full Neanderthal Genome at that time (2009), failed to uncover evidence of interbreeding between Neanderthals and modern humans. By 2010, findings by
Svante Pääbo Svante Pääbo (; born 20 April 1955) is a Swedish geneticist who specialises in the field of evolutionary genetics. As one of the founders of paleogenetics, he has worked extensively on the Neanderthal genome. In 1997, he became founding dire ...
(Max Planck Institute for Evolutionary Anthropology at Leipzig, Germany), Richard E. Green (University of California, Santa Cruz), and David Reich (Harvard Medical School), comparing the genetic material from the bones of three Neanderthals with that from five modern humans, did show a relationship between Neanderthals and modern people outside Africa.


Upper Paleolithic

It is thought that modern humans began to inhabit Europe during the Upper Paleolithic about 40,000 years ago. Some evidence shows the spread of the
Aurignacian The Aurignacian () is an archaeological industry of the Upper Paleolithic associated with European early modern humans (EEMH) lasting from 43,000 to 26,000 years ago. The Upper Paleolithic developed in Europe some time after the Levant, where t ...
culture. From a purely patrilineal, Y-chromosome perspective, it is possible that the old Haplogroup C1a2, F and/or E may be those with the oldest presence in Europe. They have been found in some very old human remains in Europe. However, other haplogroups are far more common among living European males because of later demographic changes. Haplogroup I (M170), which is now relatively common and widespread within Europe, may represent a Palaeolithic marker – its age has been estimated at ~ 22,000 BP. While it is now concentrated in Europe, it probably arose in a male from the Middle East or Caucasus, or their near descendants, c. 20–25,000 years BP, when it diverged from its immediate ancestor, haplogroup IJ. At about this time, an Upper Palaeolithic culture also appeared, known as the Gravettian. Earlier research into Y-DNA had instead focused on
haplogroup R1 Haplogroup R1, or R-M173, is a Y-chromosome DNA haplogroup. A primary subclade of Haplogroup R (R-M207), it is defined by the SNP M173. The other primary subclade of Haplogroup R is Haplogroup R2 (R-M479). Males carrying R-M173 in modern populat ...
(M173): the most populous lineage among living European males; R1 was also believed to have emerged ~ 40,000 BP in Central Asia. However, it is now estimated that R1 emerged substantially more recently: a 2008 study dated the most recent common ancestor of haplogroup IJ to 38,500 and haplogroup R1 to 18,000 BP. This suggested that haplogroup IJ colonists formed the first wave and haplogroup R1 arrived much later. Thus the genetic data suggests that, at least from the perspective of patrilineal ancestry, separate groups of modern humans took two routes into Europe: from the Middle East via the Balkans and another from Central Asia via the
Eurasian Steppe The Eurasian Steppe, also simply called the Great Steppe or the steppes, is the vast steppe ecoregion of Eurasia in the temperate grasslands, savannas and shrublands biome. It stretches through Hungary, Bulgaria, Romania, Moldova and Transnistri ...
, to the north of the Black Sea. 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 ~ 40–50 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%-plus of male lineages are characterised by the R1 superfamily, which is of possible central Asian origin. Ornella 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

The Last Glacial Maximum ("LGM") started c. 30 ka BCE, at the end of
MIS 3 Marine isotope stages (MIS), marine oxygen-isotope stages, or oxygen isotope stages (OIS), are alternating warm and cool periods in the Earth's paleoclimate, deduced from oxygen isotope data reflecting changes in temperature derived from data ...
, leading to a depopulation of Northern Europe. According to the classical model, people took refuge in climatic sanctuaries (or refugia) as follows: * Northern Iberia and Southwest France, together making up the "Franco-Cantabrian" refugium * The Balkans * Ukraine 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, including 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 after the
Late Glacial Maximum The Last Glacial Maximum (LGM), also referred to as the Late Glacial Maximum, was the most recent time during the Last Glacial Period that ice sheets were at their greatest extent. Ice sheets covered much of Northern North America, Northern Eur ...
. 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. From a study of 51 individuals, researchers were able to identify five separate genetic clusters of ancient Eurasians during the LGM: the Věstonice Cluster (34,000–26,000 years ago), associated with the
Gravettian culture The Gravettian was an archaeological industry of the European Upper Paleolithic that succeeded the Aurignacian circa 33,000 years BP. It is archaeologically the last European culture many consider unified, and had mostly disappeared by  2 ...
; the Mal'ta Cluster (24,000–17,000), associated with the Mal'ta-Buret' culture, the El Mirón Cluster (19,000–14,000 years ago), associated with the
Magdalenian culture The Magdalenian cultures (also Madelenian; French: ''Magdalénien'') are later cultures of the Upper Paleolithic and Mesolithic in western Europe. They date from around 17,000 to 12,000 years ago. It is named after the type site of La Madele ...
; the Villabruna Cluster (14,000–7,000 years ago) and the Satsurblia Cluster (13,000 to 10,000 years ago). From around 37,000 years ago, all ancient Europeans began to share some ancestry with modern Europeans. This founding population is represented by GoyetQ116-1, a 35,000 year old specimen from Belgium. This lineage disappears from the record and is not found again until 19,000 BP in Spain at El Mirón, which shows strong affinities to GoyetQ116-1. During this interval, the distinct Věstonice Cluster is predominant in Europe, even at Goyet. The re-expansion of the El Mirón Cluster coincided with warming temperatures following the retreat of the glaciers during the
Last Glacial Maximum The Last Glacial Maximum (LGM), also referred to as the Late Glacial Maximum, was the most recent time during the Last Glacial Period that ice sheets were at their greatest extent. Ice sheets covered much of Northern North America, Northern Eur ...
. From 37,000 to 14,000 years ago, the population of Europe consisted of an isolated population descended from a founding population that didn't interbreed significantly with other populations.


Mesolithic

Mesolithic The Mesolithic (Greek: μέσος, ''mesos'' 'middle' + λίθος, ''lithos'' 'stone') or Middle Stone Age is the Old World archaeological period between the Upper Paleolithic and the Neolithic. The term Epipaleolithic is often used synonymous ...
(post-LGM) populations had diverged significantly due to their relative isolation over several millennia, to the harsh selection pressures during the LGM, and to the
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 ...
s caused by the rapid expansion from LGM refugia in the beginning Mesolithic. By the end of the LGM, around 19 to 11 ka, the familiar varieties of Eurasian phenotypes had emerged. However, the lineage of Mesolithic hunter-gatherers of Western Europe (WHG) does not survive as a majority contribution in any modern population. They were most likely blue eyed, and retained the dark skin pigmentation of pre-LGM EEMH. The
HERC2 HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C ...
and
OCA2 P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (''OCA2'') gene. The P protein is believed to be an integral membrane ...
variations for blue eyes are derived from the WHG lineage were also found in the Yamnaya people. Around 14,000 years ago, the Villabruna Cluster shifted away from GoyetQ116-1 affinity and started to show more affinity with the Near East, a shift which coincided with the warming temperatures of the Bølling-Allerød interstadial. This genetic shift shows that Near East populations had probably already begun moving into Europe during the end of the Upper Paleolithic, about 6,000 years earlier than previously thought, before the introduction of farming. A few specimens from the Villabruna Cluster also show genetic affinities for East Asians that are derived from gene flow. The
HERC2 HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C ...
variation for blue eyes first appears around 13,000 to 14,000 years ago in Italy and the Caucasus. The light skin pigmentation characteristic of modern Europeans is estimated to have spread across Europe in a "selective sweep" during the Mesolithic (19 to 11 ka). The associated TYRP1 SLC24A5 and SLC45A2 alleles emerge around 19 ka, still during the LGM, most likely in the Caucasus.


Neolithic

A big cline in genetic variation that has long been recognised 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 European genetic diversity. The Neolithic started with the introduction of farming, beginning in SE Europe approximately 10,000–3000 BCE, and extending into NW Europe between 4500 and 1700 BCE. During this era, the
Neolithic revolution The Neolithic Revolution, or the (First) Agricultural Revolution, was the wide-scale transition of many human cultures during the Neolithic period from a lifestyle of hunting and gathering to one of agriculture and settlement, making an incre ...
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 that already had farming, and who also had sea-faring technology, had a transient presence in Greece (for example at
Franchthi Cave Franchthi Cave or Frankhthi Cave ( el, Σπήλαιον Φράγχθι) is an archaeological site overlooking Kiladha Bay, in the Argolic Gulf, opposite the village of Kiladha in southeastern Argolis, Greece. Humans first occupied the cave during ...
). * There is consensus that agricultural technology and the main breeds of animals and plants which are farmed entered Europe from somewhere in the area of the Fertile Crescent and specifically the Levant region from the
Sinai Sinai commonly refers to: * Sinai Peninsula, Egypt * Mount Sinai, a mountain in the Sinai Peninsula, Egypt * Biblical Mount Sinai, the site in the Bible where Moses received the Law of God Sinai may also refer to: * Sinai, South Dakota, a place ...
to
Southern Anatolia Southern may refer to: Businesses * China Southern Airlines, airline based in Guangzhou, China * Southern Airways, defunct US airline * Southern Air, air cargo transportation company based in Norwalk, Connecticut, US * Southern Airways Express, M ...
. (Less certainly, this agricultural revolution is sometimes argued to have in turn been partly triggered by movements of people and technology coming across the Sinai from Africa.) For more see Fertile Crescent: Cosmopolitan diffusion. * A later stage of the Neolithic, the so-called Pottery Neolithic, saw an introduction 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 Mediterranean Eastern Mediterranean is a loose definition of the eastern approximate half, or third, of the Mediterranean Sea, often defined as the countries around the Levantine Sea. It typically embraces all of that sea's coastal zones, referring to communi ...
, 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. 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, and 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 The Neolithic Revolution, or the (First) Agricultural Revolution, was the wide-scale transition of many human cultures during the Neolithic period from a lifestyle of hunting and gathering to one of agriculture and settlement, making an incre ...
of the 7th to 5th millennia BCE. 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 The gene pool is the set of all genes, or genetic information, in any population, usually of a particular species. Description A large gene pool indicates extensive genetic diversity, which is associated with robust populations that can surv ...
. 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, Battaglia 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 The Mesolithic (Greek: μέσος, ''mesos'' 'middle' + λίθος, ''lithos'' 'stone') or Middle Stone Age is the Old World archaeological period between the Upper Paleolithic and the Neolithic. The term Epipaleolithic is often used synonymous ...
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, Cruciani Also se
Supplementary Data
tentatively suggested (i) a different point where the V13 mutation happened on its way from Egypt to the Balkans via the Middle East, and (ii) a later dispersal time. The authors proposed that the V13 mutation first appeared in western Asia, where it is found in low but significant frequencies, 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". More recently, Lacan announced that a 7000-year-old skeleton in a Neolithic context in a Spanish funeral cave, was an E-V13 man. (The other specimens tested from the same site were in
haplogroup G2a Haplogroup G (M201) is a human Y-chromosome haplogroup. It is one of two branches of the parent haplogroup GHIJK, the other being Haplogroup HIJK, HIJK. G-M201 is most commonly found among various ethnic groups of the Caucasus, but is also wide ...
, which has been found in Neolithic contexts throughout Europe.) Using 7 STR markers, this specimen was identified as being similar to modern individuals tested in Albania,
Bosnia Bosnia and Herzegovina ( sh, / , ), abbreviated BiH () or B&H, sometimes called Bosnia–Herzegovina and often known informally as Bosnia, is a country at the crossroads of south and southeast Europe, located in the Balkans. Bosnia and He ...
, Greece,
Corsica Corsica ( , Upper , Southern ; it, Corsica; ; french: Corse ; lij, Còrsega; sc, Còssiga) is an island in the Mediterranean Sea and one of the 18 regions of France. It is the fourth-largest island in the Mediterranean and lies southeast of ...
, and Provence. The authors therefore proposed that, whether or not the modern distribution of E-V13 of today is a result of more recent events, E-V13 was already in Europe within the Neolithic, carried by early farmers from the Eastern Mediterranean to the Western Mediterranean, much earlier than the Bronze Age. This supports the proposals of Battaglia et al. rather than Cruciani et al. at least concerning earliest European dispersals, but E-V13 may have dispersed more than once. Even more recent than the Bronze Age, it has also been proposed that modern E-V13's modern distribution in Europe is at least partly caused by Roman era movements of people. (See below.) The migration of Neolithic farmers into Europe brought along several new adaptations. The variation for light skin colour was introduced to Europe by the neolithic farmers. After the arrival of the neolithic farmers, a
SLC22A4 Solute carrier family 22, member 4, also known as SLC22A4, is a human gene; the encoded protein is known as the ergothioneine transporter. Function The encoded protein is an integral protein of the plasma membrane containing 12 transmembrane se ...
mutation was selected for, a mutation which probably arose to deal with ergothioneine deficiency but increases the risk of ulcerative colitis, coeliac disease, and irritable bowel syndrome.


Bronze Age

The Bronze Age saw the development of long-distance trading networks, particularly along the Atlantic Coast and in the Danube valley. There was migration from Norway to
Orkney Orkney (; sco, Orkney; on, Orkneyjar; nrn, Orknøjar), also known as the Orkney Islands, is an archipelago in the Northern Isles of Scotland, situated off the north coast of the island of Great Britain. Orkney is 10 miles (16 km) north ...
and
Shetland Shetland, also called the Shetland Islands and formerly Zetland, is a subarctic archipelago in Scotland lying between Orkney, the Faroe Islands and Norway. It is the northernmost region of the United Kingdom. The islands lie about to the no ...
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. Another theory about the origin of the
Indo-European language The Indo-European languages are a language family native to the overwhelming majority of Europe, the Iranian plateau, and the northern Indian subcontinent. Some European languages of this family, English, French, Portuguese, Russian, Dutch ...
centres around a hypothetical Proto-Indo-European people, who, according to the Kurgan hypothesis, can be traced to north of the Black and Caspian Seas at about 4500 BCE. They domesticated the horse and possibly invented the wooden disk
wheel A wheel is a circular component that is intended to rotate on an axle Bearing (mechanical), bearing. The wheel is one of the key components of the wheel and axle which is one of the Simple machine, six simple machines. Wheels, in conjunction wi ...
, and are considered to have spread their culture and genes across Europe. The Y haplogroup R1a is a proposed marker of these "Kurgan" genes, as is the Y
Haplogroup R1b Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup. It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkirs) and pockets of Central A ...
, although these haplogroups as a whole may be much older than the language family. In the far north, carriers of the Y-haplogroup N arrived to Europe from Siberia, 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 the Kunda culture and its putative ancestor, the Swiderian culture, but the latter is thought to have a European origin. The geographical spread of haplogroup N in Europe is well aligned with the Pit–Comb Ware culture, whose emergence is commonly dated c. 4200 BCE, and with the distribution of Uralic languages. Mitochondrial DNA studies of
Sami people Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise net ...
, haplogroup U5 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". Farther 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 The Komi ( kv, комияс, ' also ', also called Komi-Zyryans or Zyryans, are an indigenous Permian ethnic group whose homeland is in the northeast of European Russia around the basins of the Vychegda, Pechora and Kama rivers. They mostly ...
(65% according to another study), 67% of Mari people, as many as 98% of Nenets people, 94% of Nganasans, and 86% to 94% of Yakuts. The Yamnaya component contains partial ancestry from an Ancient North Eurasian component, a Paleolithic Siberian lineage but closely related to European hunter-gatherers, first identified in Mal'ta. According to Iosif Lazaridis, "the Ancient North Eurasian ancestry is proportionally the smallest component everywhere in Europe, never more than 20 percent, but we find it in nearly every European group we’ve studied." This genetic component does not come directly from the Mal'ta lineage itself, but a related lineage that separated from the Mal'ta lineage. Up to a half of the Yamnaya component may have come from a Caucasus hunter-gatherer strand. On November 16, 2015, in a study published in the journal '' Nature Communications'', geneticists announced that they had found a new fourth ancestral "tribe" or "strand" which had contributed to the modern European gene pool. They analysed genomes from two hunter-gatherers from Georgia which were 13,300 and 9,700 years old, and found that these Caucasus hunter-gatherers were probably the source of the farmer-like DNA in the Yamna. According to co-author Dr Andrea Manica of the University of Cambridge: "The question of where the Yamnaya come from has been something of a mystery up to now....we can now answer that as we've found that their genetic make-up is a mix of
Eastern European Hunter-Gatherer In archaeogenetics, the term Eastern Hunter-Gatherer (EHG), sometimes East European Hunter-Gatherer, or Eastern European Hunter-Gatherer is the name given to a distinct ancestral component that represents descent from Mesolithic hunter-gatherers of ...
s and a population from this pocket of Caucasus hunter-gatherers who weathered much of the last Ice Age in apparent isolation." According to Lazaridis et al. (2016), a population related to the people of the Chalcolithic Iran contributed to roughly half of the ancestry of Yamnaya populations of the Pontic–Caspian steppe. These Iranian Chalcolithic people were a mixture of "the Neolithic people of western Iran, the Levant, and Caucasus Hunter Gatherers." The genetic variations for lactase persistence and greater height came with the Yamnaya people. The derived allele of the
KITLG Stem cell factor (also known as SCF, KIT-ligand, KL, or steel factor) is a cytokine that binds to the c-KIT receptor (CD117). SCF can exist both as a transmembrane protein and a soluble protein. This cytokine plays an important role in hematopoie ...
gene (SNP rs12821256) that is associated with – and likely causal for – blond hair in Europeans is found in populations with Eastern but not Western Hunter-Gatherers ancestry, suggesting that its origin is in the Ancient North Eurasian (ANE) population and may have been spread in Europe by individuals with steppe ancestry. Consistent with this, the earliest known individual with the derived allele is an ANE individual from the Late Upper Paleolithic
Afontova Gora Afontova Gora is a Late Upper Paleolithic and Mesolithic Siberian complex of archaeological sites located on the left bank of the Yenisei River near the city of Krasnoyarsk, Russia. Afontova Gora has cultural and genetic links to the people f ...
archaeological complex in central Siberia.


Recent history

During the period of the Roman Empire, 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 inflicted 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 ' Romanisation' appears to have been accomplished by the colonisation of provinces by a few Latin speaking administrators, military personnel, settled veterans, and private citizens (merchants, traders) who emanated from the Empire's various regions (and not merely from
Roman Italy Roman Italy (called in both the Latin and Italian languages referring to the Italian Peninsula) was the homeland of the ancient Romans and of the Roman empire. According to Roman mythology, Italy was the ancestral home promised by Jupiter to A ...
). 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, like Romanians, Aromanians, Moldovans, etc. have been found to genetically resemble neighbouring Greek and South Slavic-speaking peoples rather than modern Italians. Steven Bird has speculated that E1b1b1a was spread during the
Roman era In modern historiography, ancient Rome refers to Roman civilisation from the founding of the city of Rome in the 8th century BC to the collapse of the Western Roman Empire in the 5th century AD. It encompasses the Roman Kingdom (753–509 BC ...
through Thracian and Dacian populations from the Balkans into the rest of Europe. Concerning the late Roman period of (not only) Germanic "''
Völkerwanderung The Migration Period was a period in European history marked by large-scale migrations that saw the fall of the Western Roman Empire and subsequent settlement of its former territories by various tribes, and the establishment of the post-Roman ...
''", some suggestions have been made, at least for Britain, with Y haplogroup I1a being associated with
Anglo-Saxon The Anglo-Saxons were a Cultural identity, cultural group who inhabited England in the Early Middle Ages. They traced their origins to settlers who came to Britain from mainland Europe in the 5th century. However, the ethnogenesis of the Anglo- ...
immigration in eastern England, and R1a being associated with Norse immigration in northern Scotland.


Genetics of modern European populations


Patrilineal studies

There are four main Y-chromosome DNA haplogroups that account for most of Europe's patrilineal descent. Note: Haplogroup names are different in this article. For example: Haplogroup I is referred as M170 * Haplogroup
R1b Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup. It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkirs) and pockets of Central A ...
is common in Europe, particularly in Western Europe, with the R1b1a1a2 being the most common among Western Europeans. 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 Asia, western Asia and Africa tends to be in other clades. It has also been pointed out that
outlier In statistics, an outlier is a data point that differs significantly from other observations. An outlier may be due to a variability in the measurement, an indication of novel data, or it may be the result of experimental error; the latter are ...
types are present in Europe and are particularly notable in some areas such as Sardinia and Armenia. Haplogroup R1b frequencies vary from highs in western Europe in a steadily decreasing cline with growing distance from the Atlantic: 80–90% (
Welsh Welsh may refer to: Related to Wales * Welsh, referring or related to Wales * Welsh language, a Brittonic Celtic language spoken in Wales * Welsh people People * Welsh (surname) * Sometimes used as a synonym for the ancient Britons (Celtic peop ...
, Basque, Irish, Scots, Bretons) around 70–80% in Spain, Britain and France and around 40–60% in parts of eastern Germany, and northern Italy. It drops outside this area and is around 30% or less in areas such as southern Italy, Poland, the Balkans and Cyprus. R1b remains the most common clade as one moves east to Germany, while farther east, in Poland, R1a is more common (see below). A copy can be found here . In southeastern Europe, 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 strong presence in England) and R-P312, which is most common west of the Rhine, including the British Isles. * Haplogroup R1a, almost entirely in the R1a1a sub-clade, is prevalent in much of Eastern and Central Europe (also in
South South is one of the cardinal directions or Points of the compass, compass points. The direction is the opposite of north and is perpendicular to both east and west. Etymology The word ''south'' comes from Old English ''sūþ'', from earlier Pro ...
and Central Asia). 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). In the Baltic countries R1a frequencies decrease from Lithuania (45%) to Estonia (around 30%). * Haplogroup I is found in the form of various sub-clades throughout Europe and is found at highest frequencies in the
Nordic countries The Nordic countries (also known as the Nordics or ''Norden''; literal translation, lit. 'the North') are a geographical and cultural region in Northern Europe and the Atlantic Ocean, North Atlantic. It includes the sovereign states of Denmar ...
as I1 ( Norway, Denmark,
Sweden Sweden, formally the Kingdom of Sweden,The United Nations Group of Experts on Geographical Names states that the country's formal name is the Kingdom of SwedenUNGEGN World Geographical Names, Sweden./ref> is a Nordic country located on ...
, Finland) and in the
Balkan Peninsula The Balkans ( ), also known as the Balkan Peninsula, is a geographical area in southeastern Europe with various geographical and historical definitions. The region takes its name from the Balkan Mountains that stretch throughout the who ...
as I2a ( Bosnia and Herzegovina 65%, Croatia and Serbia). I1 is also frequent in Germany, Great Britain and Netherlands, while I2a is frequent also in Sardinia, Romania/ Moldova, Bulgaria and Ukraine. This clade is found at its highest expression by far in Europe and may have been there since before the LGM. * Haplogroup E1b1b (formerly known as E3b) was part of a migration of Neolithic farmers from the Middle East, which carried E1b1b at low to medium frequency and was introduced into Neolithic Middle Easterners throughout genetic drift from a migration from Africa into the Middle East associated with the Afroasiatic languages. It is believed to have first appeared in Northeast Africa approximately 26,000 years ago and dispersed to North Africa and the Near East during the late Paleolithic and Mesolithic periods. E1b1b lineages are closely linked to the diffusion of Afroasiatic languages. Although present throughout Europe, it peaks in the western
Balkan region Balkan Region ( tk, Balkan welaýaty, Балкан велаяты) is the westernmost of the five regions of Turkmenistan. Clockwise from north it borders Kazakhstan, Uzbekistan (north); two provinces of Turkmenistan (east), Iran (south), and ...
amongst
Albanians The Albanians (; sq, Shqiptarët ) are an ethnic group and nation native to the Balkan Peninsula who share a common Albanian ancestry, culture, history and language. They primarily live in Albania, Kosovo, North Macedonia, Montenegro, Se ...
and their neighbors. It is also common in Italy and the Iberian peninsula at lower frequency. Haplogroup E1b1b1, mainly in the form of its E1b1b1a2 (E-V13) sub-clade, reaches frequencies above 47% around the area of Kosovo. This clade is thought to have arrived in Europe from western Asia either in the later Mesolithic, or the Neolithic. North Africa subclade E-M81 is also present in Sicily and Andalusia. Putting aside small enclaves, there are also several haplogroups apart from the above four that are less prominent or most common only in certain areas of Europe. *
Haplogroup G Haplogroup G may refer to: * Haplogroup G (mtDNA) In human mitochondrial genetics, Haplogroup G is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup G is a descendant of haplogroup M. Haplogroup G is divided into subclades G1, G2, ...
, the original Neolithic Europeans (Caucasians), is common in most parts of Europe at a low frequency, reaching peaks above 70% around Georgia and among the Madjars (although living in Asia they border the eastern perimeter of Europe), up to 10% in Sardinia, 12% in Corsica and Uppsala (Sweden), 11% in the Balkans and Portugal, 10% in Spain and 9% in European Russia. This clade is also found in the Near East. * Haplogroup N, 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 Estonians, Latvians, and Lithuanians. * Haplogroup J2, in various sub-clades (J2a, J2b), is found in levels of around 15–30% in the Balkans (particularly Greece) and Italy. Haplogroup J2 is frequent in Western Asia and the
Eastern Mediterranean Eastern Mediterranean is a loose definition of the eastern approximate half, or third, of the Mediterranean Sea, often defined as the countries around the Levantine Sea. It typically embraces all of that sea's coastal zones, referring to communi ...
.


Matrilineal studies

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 characterised 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 In social anthropology, patrilocal residence or patrilocality, also known as virilocal residence or virilocality, are terms referring to the social system in which a married couple resides with or near the husband's parents. The concept of loca ...
. Genetic studies suggest some maternal gene flow to eastern Europe from eastern Asia or southern Siberia 13,000 – 6,600 years BP. Analysis of Neolithic skeletons in the Great Hungarian Plain found a high frequency of eastern Asian mtDNA haplogroups, some of which survive in modern eastern European populations. Maternal gene flow to Europe from sub-Saharan Africa began as early as 11,000 years BP, although the majority of lineages, approximately 65%, are estimated to have arrived more recently, including during the Romanization period, the Arab conquests of southern Europe, and during the Atlantic slave trade.


European population sub-structure

Genetically, Europe is relatively homogeneous, but distinct sub-population patterns of various types of genetic markers have been found, particularly along a southeast–northwest cline. For example, 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. # A cline of genes with highest frequencies in the Middle 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 among Finnish and Sami 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 Don and Volga rivers in southern Russia, and spreading to lowest frequencies in Spain,
Southern Italy Southern Italy ( it, Sud Italia or ) also known as ''Meridione'' or ''Mezzogiorno'' (), is a macroregion of the Italian Republic consisting of its southern half. The term ''Mezzogiorno'' today refers to regions that are associated with the peop ...
, Greece and the areas inhabited by Saami speakers in the extreme north of Scandinavia. 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 Balkans 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 BCE but which certainly began earlier". # A cline of genes with highest frequencies in the
Basque country Basque Country may refer to: * Basque Country (autonomous community), as used in Spain ( es, País Vasco, link=no), also called , an Autonomous communities of Spain, autonomous community of Spain (shown in pink on the map) * French Basque Country o ...
, and lower levels beyond the area of Iberia and
Southern France Southern France, also known as the South of France or colloquially in French language, French as , is a defined geographical area consisting of the regions of France that border the Atlantic Ocean south of the Marais Poitevin,Louis Papy, ''Le midi ...
. In perhaps the most well-known conclusion from Cavalli-Sforza, this weakest of the five 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 negative The Rh blood group system is a human blood group system. It contains proteins on the surface of red blood cells. After the ABO blood group system, it is the most likely to be involved in transfusion reactions. The Rh blood group system consists ...
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 among Europeans. He found four major 'outliers'-
Basques The Basques ( or ; eu, euskaldunak ; es, vascos ; french: basques ) are a Southwestern European ethnic group, characterised by the Basque language, a common culture and shared genetic ancestry to the ancient Vascones and Aquitanians. Bas ...
, Sami, Sardinians and
Icelanders Icelanders ( is, Íslendingar) are a North Germanic ethnic group and nation who are native to the island country of Iceland and speak Icelandic. Icelanders established the country of Iceland in mid 930 AD when the Althing (Parliament) met for ...
; a result he attributed to their relative isolation (note: the Icelanders and the Sardinians speak Indo-European languages, while the other two groups do not). Greeks and Yugoslavs represented a second group of less extreme outliers. The remaining populations clustered into several groups : "
Celtic Celtic, Celtics or Keltic may refer to: Language and ethnicity *pertaining to Celts, a collection of Indo-European peoples in Europe and Anatolia **Celts (modern) *Celtic languages **Proto-Celtic language * Celtic music *Celtic nations Sports Fo ...
", " Germanic", "south-western Europeans", " Scandinavians" and "eastern Europeans". A study in May 2009 of 19 populations from Europe using 270,000 SNPs highlighted the genetic diversity of 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 region The terms Baltic Sea Region, Baltic Rim countries (or simply the Baltic Rim), and the Baltic Sea countries/states refer to slightly different combinations of countries in the general area surrounding the Baltic Sea, mainly in Northern Europe. ...
( Estonia,
Latvia Latvia ( or ; lv, Latvija ; ltg, Latveja; liv, Leţmō), officially the Republic of Latvia ( lv, Latvijas Republika, links=no, ltg, Latvejas Republika, links=no, liv, Leţmō Vabāmō, links=no), is a country in the Baltic region of ...
and
Lithuania Lithuania (; lt, Lietuva ), officially the Republic of Lithuania ( lt, Lietuvos Respublika, links=no ), is a country in the Baltic region of Europe. It is one of three Baltic states and lies on the eastern shore of the Baltic Sea. Lithuania ...
), western Russia and eastern Poland. * Central and Western Europe. * Italy, due to the alps acting as a great genetic barrier. In this study, barrier analysis revealed "genetic barriers" between Finland, Italy and other countries and that 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 Palestinians ( ar, الفلسطينيون, ; he, פָלַסְטִינִים, ) or Palestinian people ( ar, الشعب الفلسطيني, label=none, ), also referred to as Palestinian Arabs ( ar, الفلسطينيين العرب, label=non ...
,
Druzes The Druze (; ar, دَرْزِيٌّ, ' or ', , ') are an Arabic-speaking esoteric ethnoreligious group from Western Asia who adhere to the Druze faith, an Abrahamic, monotheistic, syncretic, and ethnic religion based on the teachings of H ...
...) 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 neighbouring countries/regions (for example, Greeks/
Tuscans it, Toscano (man) it, Toscana (woman) , population_note = , population_blank1_title = , population_blank1 = , demographics_type1 = Citizenship , demographics1_footnotes = , demographics1_title1 = Italian , demogra ...
: Fst=0.0010, Greeks/
Palestinians Palestinians ( ar, الفلسطينيون, ; he, פָלַסְטִינִים, ) or Palestinian people ( ar, الشعب الفلسطيني, label=none, ), also referred to as Palestinian Arabs ( ar, الفلسطينيين العرب, label=non ...
: Fst=0.0057) compared with those from very different regions in Europe (for example Greeks/
Swedish Swedish or ' may refer to: Anything from or related to Sweden, a country in Northern Europe. Or, specifically: * Swedish language, a North Germanic language spoken primarily in Sweden and Finland ** Swedish alphabet, the official alphabet used by ...
: Fst=0.0087, Greeks/ Russians: Fst=0.0108).


Autosomal DNA

Seldin (2006) used over 5,000 autosomal SNPs. It showed "a consistent and reproducible distinction between ‘northern’ and ‘southern’ European population groups". Most individual participants with southern European ancestry ( Italians, Greeks, Portuguese,
Spaniards Spaniards, or Spanish people, are a Romance peoples, Romance ethnic group native to Spain. Within Spain, there are a number of National and regional identity in Spain, national and regional ethnic identities that reflect the country's complex Hist ...
), and Ashkenazi Jews have >85% membership in the southern population; and most northern, western, central, and eastern Europeans (
Swedes Swedes ( sv, svenskar) are a North Germanic ethnic group native to the Nordic region, primarily their nation state of Sweden, who share a common ancestry, culture, history and language. They mostly inhabit Sweden and the other Nordic countr ...
, English, Irish, Germans, and Ukrainians) have >90% in the northern population group. Many of the participants in this study were American citizens who self-identified with different European ethnicities based on self-reported familial pedigree. A similar study in 2007 using samples predominantly from Europe found that the most important genetic differentiation in Europe occurs on a line from the north to the south-east (
northern Europe The northern region of Europe has several definitions. A restrictive definition may describe Northern Europe as being roughly north of the southern coast of the Baltic Sea, which is about 54th parallel north, 54°N, or may be based on other g ...
to the Balkans), with another east–west axis of differentiation across Europe. Its findings were consistent with earlier results based on mtDNA and Y-chromosomal 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 Poles,, ; singular masculine: ''Polak'', singular feminine: ''Polka'' or Polish people, are a West Slavic nation and ethnic group, who share a common history, culture, the Polish language and are identified with the country of Poland in Ce ...
, while some Basque and Italian individuals also clustered with Northern Europeans. Despite these stratifications, it noted that "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 The Basques ( or ; eu, euskaldunak ; es, vascos ; french: basques ) are a Southwestern European ethnic group, characterised by the Basque language, a common culture and shared genetic ancestry to the ancient Vascones and Aquitanians. Bas ...
, Finns and Sardinians, the European population lacked sharp discontinuities (clustering) as previous studies have found (see Seldin ''et al.'' 2006 and Bauchet ''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 characterised 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 is the increase in the number of people in a population or dispersed group. Actual global human population growth amounts to around 83 million annually, or 1.1% per year. The global population has grown from 1 billion in 1800 to ...
from southern to northern Europe. The researchers take this observation to imply that genetically, Europeans are not distributed into discrete populations. Two whole-genome studies of the two Eastern European populations in Ukraine ( Ukrainians from Ukraine) and Russia ( Russians from Russia) showed genomic diversity from this region has not been represented in the previous genomic surveys, as studies in Europe are mostly biased towards the populations in the western part of the continent. Within Russia,
Komi people The Komi ( kv, комияс, ' also ', also called Komi-Zyryans or Zyryans, are an indigenous Permian ethnic group whose homeland is in the northeast of European Russia around the basins of the Vychegda, Pechora and Kama rivers. They mostly ...
that live in the north eastern part of the country, and are part of the
Uralic The Uralic languages (; sometimes called Uralian languages ) form a language family of 38 languages spoken by approximately 25million people, predominantly in Northern Eurasia. The Uralic languages with the most native speakers are Hungarian (w ...
language family that also includes Finns, form a pole of genetic diversity that is distinct from other populations, and characterized by a higher European hunter-gatherer (WHG) and Ancient North Eurasian ancestry. According to geneticist David Reich, based on ancient human genomes that his laboratory sequenced in 2016, Europeans descend from a mixture of four West-Eurasian ancestral components, namely WHG (Western Hunter-gatherers), EHG (Eastern Hunter-gatherers), Neolithic farmers from the Levant/Anatolia as well as from Neolithic farmers from Iran (often summarized as "EEF"; Early European farmers), in varying degrees. Siberian geneflow is found among several Uralic-speaking European ethnic groups. This Siberian component is itself a composition of Ancient North Eurasian and East Asian-related ancestry from Eastern Siberia, maximized among Evenks and Evens or Nganasans. The spread of this ancestry is linked by some geneticists to the dispersal of Uralic languages, others however maintain that the Uralic languages spreaded prior to the arrival of Siberian geneflow, which is a secondary source of diversity within Uralic-speaking populations. Genetic data points to a Western Siberian
hunter-gatherer A traditional hunter-gatherer or forager is a human living an ancestrally derived lifestyle in which most or all food is obtained by foraging, that is, by gathering food from local sources, especially edible wild plants but also insects, fungi, ...
origin of the observed Siberian geneflow among Uralic-speaking groups, which are best represented by the modern Khanty. Historical Western Siberian hunter-gatherers were characterized by high Ancient North Eurasian ancestry and lower amounts of Eastern Siberian admixture. Genetic data on
Volga Tatars The Volga Tatars or simply Tatars ( tt-Cyrl, татарлар, tatarlar) are a Turkic ethnic group native to the Volga-Ural region of Russia. They are subdivided into various subgroups. Volga Tatars are Russia's second-largest ethnicity after t ...
or Chuvash, found among "''Western Turkic speakers, like Chuvash and Volga Tatar, the East Asian component was detected only in low amounts (~ 5%)''".
East Asian East Asia is the eastern region of Asia, which is defined in both geographical and ethno-cultural terms. The modern states of East Asia include China, Japan, Mongolia, North Korea, South Korea, and Taiwan. China, North Korea, South Korea a ...
ancestry is furthermore found at low frequency among other Europeans: Germans and French people (CEU) ~1%, Britons (GBR) 2.5%–3.8%, Russians and Finns ~13%, associated with the Turco-Mongol expansion, and higher among the
Lipka Tatars The Lipka Tatars (Lipka – refers to ''Lithuania'', also known as Lithuanian Tatars; later also – Polish Tatars, Polish-Lithuanian Tatars, ''Lipkowie'', ''Lipcani'', ''Muślimi'', ''Lietuvos totoriai'') are a Turkic ethnic group who origina ...
, a Turkic minority in Belarus ~30%. East Asian ancestry is suggested to have largely arrived indirectly through previous admixed historical Steppe nomads from Central Asia, such as the Huns, Pannonian Avars, and the Golden Horde, which got absorbed by the European majority population. European-related ancestry to East Asians was similarly contributed indirectly through Central Asian groups, specifically into Northern Han Chinese (2.8%), Southern Han Chinese (1.7%), Japanese people (2.2%), and Koreans (1.6%). Northeast Asians had inherited significantly higher European-related ancestry: Mongolians (10.9%),
Oroqens The Oroqen people (; Mongolian language, Mongolian: ; also spelt ''Orochen'' or ''Orochon'') are an ethnic group in northern China. They form one of the List of Chinese ethnic groups, 56 ethnic groups officially recognized by the People's Republi ...
(9.6%) Daur people (8%), and
Hezhen The Nanai people are a Tungusic people of East Asia who have traditionally lived along Heilongjiang (Amur), Songhuajiang (Sunggari) and Wusuli River on the Middle Amur Basin. The ancestors of the Nanai were the Jurchens of northernmost Manch ...
(6.8%), which also included earlier West-Eurasian ancestry through Ancient North Eurasians, representing the earliest layer within Siberia. Modern Europeans are genetically rather homogeneous and derive their ancestry - predominantly to exclusively - from up to five West-Eurasian lineages, in varying degrees. Modern Europeans show affinity and continuity to ancient European hunter-gatherers (
Western European Hunter-Gatherers In archaeogenetics, the term Western Hunter-Gatherer (WHG), West European Hunter-Gatherer or Western European Hunter-Gatherer names a distinct ancestral component of modern Europeans, representing descent from a population of Mesolithic hunter-ga ...
,
Scandinavian Hunter-Gatherers In archaeogenetics, the term Scandinavian Hunter-Gatherer (SHG) is the name given to a distinct ancestral component that represents descent from Mesolithic hunter-gatherers of Scandinavia. Genetic studies suggest that the SHGs were a mix of Wes ...
, and Eastern European Hunter-Gatherers), yet modern Europeans are significantly closer to
Middle Easterners The ethnic groups in the Middle East in the transcontinental region commonly known with its geopolitical term; the Middle East. The region has historically been a crossroad of different cultures and language, languages. Since the 1960s, the change ...
than ancient ones, largely explained through the more recent Neolithic Expansion of farmers from Anatolia towards Europe. Europeans, compared to Middle Easterners, have less "basal" ancestry (ancestry inferred to have diverged before the diverging of Mesolithic European hunter-gatherers and Ancient North Eurasians, therefore representing deep substructure among West-Eurasians), which is inferred to have arrived with Early European farmers (EEF). Europeans contrary have higher Ancient North Eurasian affinity, which is inferred to have arrived with Bronze and Iron Age migrations from Western Siberia. Overall, Europeans cluster closely together with Middle Eastern and South-Central Asian populations, followed by Northern African and South Asian populations, while being most distant from Sub-Saharan African (specifically Central/West African) and Eastern Asian populations.


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-statistics, 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 panmictic, 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. Essentially, these low Fst values suggest that the majority of genetic variation is at the level of individuals within the same population group (~ 85%); whilst belonging to a different population group within same ‘race’/ continent, and even to different racial/ continental groups added a much smaller degree of variation (3–8%; 6–11%, respectively). CEU – Utah residents with ancestry from Northern and Western Europe.


History of research


Classical genetic markers (by proxy)

One of the first scholars to perform genetic studies was Luigi Luca Cavalli-Sforza. 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 Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the c ...
(such as the ABO blood groups, Rhesus blood antigens, HLA loci, immunoglobulins, G6PD isoenzymes, among 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 A phylogenetic tree (also phylogeny or evolutionary tree Felsenstein J. (2004). ''Inferring Phylogenies'' Sinauer Associates: Sunderland, MA.) is a branching diagram or a tree showing the evolutionary relationships among various biological spec ...
s that 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, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. Specifically, it is the fraction of all chromosomes in the population that ...
take extreme values compared to others in the studied area. Peaks and troughs usually connected by smooth gradients are called clines. Genetic clines can be generated by adaptation to environment ( natural selection), continuous
gene flow In population genetics, gene flow (also known as gene migration or geneflow and allele flow) is the transfer of genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent a ...
between two initially different populations or a demographic expansion into a scarcely populated environment, with little initial admixture with existing populations. Cavalli-Sforza connected these gradients with postulated pre-historic population movements, based on 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".


Direct DNA analysis

Studies using direct DNA analysis are now abundant and may use mitochondrial DNA (mtDNA), the non-recombining portion of the Y chromosome (NRY), or even 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 (also known as genetic reshuffling) is the exchange of genetic material between different organisms which leads to production of offspring with combinations of traits that differ from those found in either parent. In eukaryo ...
. We also presume that these genetic loci are not affected by natural selection and that the major process responsible for changes in
base pair A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
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. These biologically plausible assumptions are not concrete; Rosser suggests that climatic conditions may affect the fertility of certain lineages. The underlying mutation rate used by the geneticists is more questionable. They often use different mutation rates and studies frequently arrive at vastly different conclusions. NRY and mtDNA may be so susceptible to drift that some ancient patterns may have become obscured. Another assumption is that population genealogies are approximated by allele genealogies. Guido Barbujani points out that this only holds if population groups develop from a genetically monomorphic set of founders. Barbujani argues that there is no reason to believe that Europe was colonised 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. 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 An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...
has the advantage of containing hundreds of thousands of examinable genetic loci, thus giving a more complete picture of genetic composition. Descent relationships can only be determined on a statistical basis, because autosomal DNA undergoes recombination. A single chromosome can record a history for each gene. Autosomal studies are much more reliable for showing the relationships between existing populations, but do not offer the possibilities for unravelling 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 methodological limitations, such as
selection bias Selection bias is the bias introduced by the selection of individuals, groups, or data for analysis in such a way that proper randomization is not achieved, thereby failing to ensure that the sample obtained is representative of the population int ...
and confounding phenomena like genetic drift, foundation and bottleneck effects cause large errors, particularly in haplogroup studies. No matter how accurate the methodology, conclusions derived from such studies are compiled on the basis of how the author envisages their data fits with established archaeological or linguistic theories.


See also

;General * Archaeogenetics * Ethnic groups in Europe * European studies * Genetic history of North Africa * Genetic history of the Middle East * Genetics and archaeogenetics of South Asia * History of Europe * Human genetic variation *
Y-DNA haplogroups in populations of Europe Y-DNA haplogroups in populations of Europe are haplogroups of the male Y-chromosome found in European populations. Frequencies in European ethnic groups The table below shows the human Y-chromosome DNA haplogroups, based on relevant studies, for ...
* Romani people#Genetic evidence ;Genetics by European group * Genetic history of Italy * Genetic history of the British Isles * Genetic history of the Iberian Peninsula * Genetic studies on Bosniaks *
Genetic studies on Bulgarians The Bulgarians are part of the Slavic ethnolinguistic group as a result of migrations of Slavic tribes to the region since the 6th century AD and the subsequent linguistic assimilation of other populations.Expansions: Competition and Conquest i ...
*
Genetic studies on Croats Population genetics is a scientific discipline which contributes to the examination of the human evolutionary and historical migrations. Particularly useful information is provided by the research of two uniparental markers within our genome, the Y- ...
*
Genetic studies on Jews Genetic studies on Jews are part of the population genetics Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biol ...
* Genetic studies on Russians * Genetic studies on Sami *
Genetic studies on Serbs Genetic studies on Serbs show close affinity to other neighboring South Slavs. Y-DNA Y-chromosomal haplogroups identified among the Serbs from Serbia and near countries are the following with respective percentages: I2a (36.6-42%), E1b1b (16.5- ...
*
Genetic studies on Turkish people Population genetics research has been conducted on the ancestry of the modern Turkish people (not to be confused with Turkic peoples) in Turkey. Such studies are relevant for the demographic history of the population as well as health reasons, s ...


References


Inline citations


Sources referenced

* * * * * * * * * * * * * * * * * * * * * * * * . * * * * * * Perlès C, Monthel G ( 2001) The Early Neolithic in Greece: The First Farming Communities in Europe. Cambridge University Press, Cambridge. * Runnels C (2003) The origins of the Greek Neolithic: a personal view, in Ammerman and Biagi (2003 eds).


External links

* {{History of Europe