유럽인 조상에 대한 자료 모음 (위키피디아)

 

I. European ancestry of 3 types

 

 

1. Eastern Hunter Gatherers (EHG) (15,000 BP - )

 

 

 

 

Genetic Ancestry of hunter-gatherers dated between 14ka and 9ka(EHG)

 

 

 

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 Mesolithic hunter-gatherers of Eastern Europe.[3]

 

The Eastern Hunter Gatherer genetic profile is mainly derived from Ancient North Eurasian (ANE) ancestry, which was introduced from Siberia,[4] with a secondary and smaller admixture of European Western Hunter-Gatherers (WHG).[5][6] Still, the relationship between the ANE and EHG ancestral components is not yet well understood due to lack of samples that could bridge the spatiotemporal gap.[5]

 

During the Mesolithic, the EHGs inhabited an area stretching from the Baltic Sea to the Urals and downwards to the Pontic–Caspian steppe.[7] Along with Scandinavian Hunter-Gatherers (SHG) and Western Hunter-Gatherers (WHG), the EHGs constituted one of the three main genetic groups in the postglacial period of early Holocene Europe.[8] The border between WHGs and EHGs ran roughly from the lower Danube, northward along the western forests of the Dnieper towards the western Baltic Sea.[9]

 

During the Neolithic and early Eneolithic, likely during the 4th millennium BC EHGs on the Pontic–Caspian steppe mixed with Caucasus hunter-gatherers (CHGs) with the resulting population, almost half-EHG and half-CHG, forming the genetic cluster known as Western Steppe Herder (WSH).[10][11] WSH populations closely related to the people of the Yamnaya culture are supposed to have embarked on a massive migration leading to the spread of Indo-European languages throughout large parts of Eurasia.

 

1) Research[edit]

 

 

 

Schematic ethnogenesis of the Eastern Hunter-Gatherers (EHG), through a main ancestry of Ancient North Eurasians (ANE), and a smaller admixture of Western Hunter-Gatherers (WHG)

 

 

 

Genetically, the Eastern Hunter Gatherers (EHG, red) were most closely related to the Ancient North Eurasians (ANE, pink).

 

Haak et al. (2015) identified the Eastern Hunter-Gatherers (EHG) as a distinct genetic cluster in two males only. The EHG male of Samara (dated to ca. 5650-5550 BC) carried Y-haplogroup R1b1a1a* and mt-haplogroup U5a1d. The other EHG male, buried in Karelia (dated to ca. 5500-5000 BC) carried Y-haplogroup R1a1 and mt-haplogoup C1g. The authors of the study also identified a Western Hunter-Gatherer (WHG) cluster and a Scandinavian Hunter-Gatherer (SHG) cluster, intermediate between WHG and EHG.[a] They suggested that EHGs harbored mixed ancestry from Ancient North Eurasians (ANEs) and WHGs.[13]

 

Researchers have proposed various admixture proportion models for EHGs from WHGs and ANEs. [14][15] Posth et al. (2023) found that most EHG individuals carried 70% ANE ancestry and 30% WHG ancestry, while Allentoft et al. (2024) estimated roughly 58% ANE ancestry.[2][16] The high contribution from Ancient North Eurasians is also visible in a subtle affinity of the EHG to the 40,000-year-old Tianyuan man from Northern China, which can be explained by geneflow from a Tianyuan-related source into the ANE lineage (represented by Malta and Afontova Gora 3), which later substantially contributed to the formation of the EHG.[17] The 'Basal East Asian' (Tianyuan-like) ancestry among EHGs (Sidelkino) has been estimated to be around 12,9%.[18]

 

The formation of the EHG ancestral component is estimated to have happened 13,000–15,000 years BP.[16]

 

EHGs may have mixed with "an Armenian-like Near Eastern source", which formed the Yamnaya culture, as early as the Eneolithic (5200-4000 BC).[19] The people of the Yamnaya culture were found to be a mix of EHG and a "Near Eastern related population". During the 3rd millennium BC, the Yamnaya people embarked on a massive expansion throughout Europe, which significantly altered the genetic landscape of the continent. The expansion gave rise to cultures such as Corded Ware, and was possibly the source of the distribution of Indo-European languages in Europe.[13]

 

The people of the Mesolithic Kunda culture and the Narva culture of the eastern Baltic were a mix of WHG and EHG, showing the closest affinity with WHG. Samples from the Ukrainian Mesolithic and Neolithic were found to cluster tightly together between WHG and EHG, suggesting genetic continuity in the Dnieper Rapids for a period of 4,000 years. The Ukrainian samples belonged exclusively to the maternal haplogroup U, which is found in around 80% of all European hunter-gatherer samples.[20]

 

The people of the Pit–Comb Ware culture (PCW/CCC) of the eastern Baltic bear 65% EHG ancestry. This is in contrast to earlier hunter-gatherers in the area, who were more closely related to WHG. This was demonstrated using a sample of Y-DNA extracted from a Pit–Comb Ware individual. This belonged to R1a15-YP172. The four samples of mtDNA extracted constituted two samples of U5b1d1, one sample of U5a2d, and one sample of U4a.[21]

 

Günther et al. (2018) analyzed 13 SHGs and found all of them to be of EHG ancestry. Generally, SHGs from western and northern Scandinavia had more EHG ancestry (ca 49%) than individuals from eastern Scandinavia (ca. 38%). The authors suggested that the SHGs were a mix of WHGs who had migrated into Scandinavia from the south, and EHGs who had later migrated into Scandinavia from the northeast along the Norwegian coast. SHGs displayed higher frequences of genetic variants that cause light skin (SLC45A2 and SLC24A5), and light eyes (OCA/Herc2), than WHGs and EHGs.[22]

 

 

 

 

Residual genetic ancestry of European hunter-gatherers during the European Neolithic, between 7.5 ka and 5 ka BP (c. 5,500~3,000 BC)

 

 

 

 

Genetic proximity of the Eastern Hunter Gatherers ( ) with ancient (color) and modern (grey) populations. Primary Component Analysis (detail).[23]

Members of the Kunda culture and Narva culture were also found to be more closely related with WHG, while the Pit–Comb Ware culture was more closely related to EHG. Northern and eastern areas of the eastern Baltic were found to be more closely related to EHG than southern areas. The study noted that EHGs, like SHGs and Baltic hunter-gatherers, carried high frequencies of the derived alleles for SLC24A5 and SLC45A2, which are codings for light skin.[24]

 

Mathieson et al. (2018) analyzed the genetics of a large number of skeletons of prehistoric Eastern Europe. Thirty-seven samples were from Mesolithic and Neolithic Ukraine (9500-6000 BC). These were classified as intermediate between EHG and SHG. The males belonged exclusively to R haplotypes (particularly subclades of R1b1 and R1a) and I haplotypes (particularly subclades of I2). Mitochondrial DNA belonged almost exclusively to U (particularly subclades of U5 and U4).[19]

 

A large number of individuals from the Zvejnieki burial ground, which mostly belonged to the Kunda culture and Narva culture in the eastern Baltic, were analyzed. These individuals were mostly of WHG descent in the earlier phases, but over time EHG ancestry became predominant. The Y-DNA of this site belonged almost exclusively to haplotypes of haplogroup R1b1a1a and I2a1. The mtDNA belonged exclusively to haplogroup U (particularly subclades of U2, U4 and U5).[19]

 

Forty individuals from three sites of the Iron Gates Mesolithic in the Balkans were estimated to be of 85% WHG and 15% EHG descent. The males at these sites carried exclusively R1b1a and I (mostly subclades of I2a) haplotypes. mtDNA belonged mostly to U (particularly subclades of U5 and U4).[19]

 

People of the Cucuteni–Trypillia culture were found to harbor about 20% hunter-gatherer ancestry, which was intermediate between EHG and WHG.[19]

Narasimshan et al. (2019) coined a new ancestral component, West Siberian Hunter-Gatherer (WSHG). WSHGs contained about 20% EHG ancestry, 73% ANE ancestry, and 6% East Asian ancestry.[25]

 

2) Possible association with Early Indo-European[edit]

 

The EHG have been argued by some to represent a possible source for the Pre-Proto-Indo-European language (see also Father Tongue hypothesis). Unlike the Yamnaya culture people (or closely related groups), which are associated with speakers of Proto-Indo-European, the EHG-rich Dnieper–Donets culture people show no evidence of Caucasus Hunter-Gatherer (CHG) or Early European Farmer (EEF) ancestry.[26] Both Dnieper-Donets males and Yamnaya males carry the same paternal haplogroups (R1b and I2a), suggesting that the CHG and EEF admixture among the Yamnaya came through EHG males mixing with EEF and CHG females. Based on this, David W. Anthony, this suggests that the Indo-European languages were initially spoken by EHGs living in Eastern Europe.[27]

 

Others have suggested that the Indo-European language family may have originated not in Eastern Europe, but among CHG-rich West Asian populations South of the Caucasus which later absorbed EHG-rich groups North of the Caucasus. It was noted that haplogroups may not correlate with autosomal ancestry components and historical language dispersals.[28]

 

3) Physical appearance[edit]

 

 

 

 

 

The mutation for blond hair is thought to have originated among the Afontova Gora population of the Ancient North Eurasian (ANE) cline of south-central Siberia.[29]

 

The EHGs are suggested to have had mostly brown eyes and light skin,[22][30] with "intermediate frequencies of the blue-eye variants" and "high frequencies of the light-skin variants."[31] An EHG from Karelia was determined by Günther (2018) to have high probabilities of being brown-eyed and dark haired, with a predicted intermediate skin tone.[32] Another EHG from Samara was predicted to be light skinned, and was determined to have a high probability of being blue-eyed with a light hair shade, with a 75% calculated probability of being blond-haired.[33][31]

 

The rs12821256 allele of the KITLG gene that controls melanocyte development and melanin synthesis,[34] which is associated with blond hair and first found in an individual from Siberia dated to around 17,000 BP, is found in three Eastern Hunter-Gatherers from Samara, Motala and Ukraine c. 10,000 BP, suggesting that this allele originated in the Ancient North Eurasian population, before spreading to western Eurasia.[35]

 

Many remains of East Hunter-Gatherers dated to circa 8,100 BP (6,100 BCE) have also been excavated at Yuzhny Oleny island in Lake Onega.[36] The Ancient North Eurasian (ANE) ancestry is by far the main component of the Yuzhny Oleny group, and is among the highest within the rest of the Eastern Hunter-Gatherers (EHG).[4]

 

 

• Reconstruction of burial No. 132 of the Oleneostrovsky burial ground (Yuzhni Oleny island, Lake Onega). Exhibit of the National Museum of the Republic of Karelia.[37]

• Artifacts and reconstruction of Eastern Hunter-Gatherers from Yuzhny Oleny island by Gerasimov.[37]

 

• Karelian Petroglyph depicting 5 skiers and a reindeer. These petroglyphs date to 7,000~6,000 years BP.

 

4) Material culture[edit]

 

 

 

 

Adoption of pottery among East European hunter-gatherers, during the 6th millennium BC (from the first adoption circa 5900 BC in the North Caspian Sea -or possibly from beyond the Ural area-, to final diffusion circa 5500 BC in the Baltic).[38]

 

As hunter-gatherers, the EHGs initially relied on stone tools and artifacts derived from ivory, horns or antlers. From circa 5,900 BC, they started to adopt pottery in the area of the northern Caspian Sea, or possibly from beyond the Ural. In barely three or four centuries, pottery spread over a distance of about 3,000 kilometers, reaching as far as the Baltic sea. This technological spread was much faster than the spread of agriculture itself, and mainly occurred through technology transfer between hunter-gatherer groups, rather than through the demic diffusion of agriculturalist.[39]

 

 

 

2. Scandinavian Hunter Gatherers (SHG) (14,000 - 9,000 BP)

 

 

Genetic Ancestry of hunter-gatherers dated between 14ka and 9ka (SHG)

 

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.[a][3][4] Genetic studies suggest that the SHGs were a mix of Western Hunter-Gatherers (WHGs) initially populating Scandinavia from the south during the Holocene, and Eastern Hunter-Gatherers (EHGs), who later entered Scandinavia from the north along the Norwegian coast. During the Neolithic, they admixed further with Early European Farmers (EEFs) and Western Steppe Herders (WSHs). Genetic continuity has been detected between the SHGs and members of the Pitted Ware culture (PWC), and to a certain degree, between SHGs and modern northern Europeans.[b] The Sámi, on the other hand, have been found to be completely unrelated to the PWC.[c]

 

1) Research[edit]

 

Scandinavian Hunter-Gatherers (SHG) were identified as a distinct ancestral component by Lazaridis et al. (2014). A number of remains examined at Motala, Sweden, and a separate group of remains from 5,000 year-old hunter-gatherers of the Pitted Ware culture (PWC), were identified as belonging to SHG. The study found that an SHG individual from Motala ('Motala12') could be successfully modelled as being of c. 81% Western Hunter-Gatherer (WHG) ancestry, and c. 19% Ancient North Eurasian (ANE) ancestry.[7]

 

Haak et al. (2015) examined the remains of six SHGs buried at Motala between ca. 6000 BC and 5700 BC. Of the four males surveyed, three carried the paternal haplogroup I2a1 or various subclades of it, while the other carried I2c. With regard to mtDNA, four individuals carried subclades of U5a, while two carried U2e1. The study found SHGs to constitute one of the three main hunter-gatherer populations of Europe during the Mesolithic.[d][e] The two other groups were WHGs and Eastern Hunter-Gatherers (EHG). EHGs were found to be an ANE-derived population with significant admixture from a WHG-like source. SHGs formed a distinct cluster between WHG and EHG, and the admixture model proposed by Lazaridis et al. could be successfully replaced with a model that takes EHG as source population for the ANE-like ancestry, with an admixture ratio of ~65% (WHG) : ~35% (EHG).[9] SHGs living between 6000 BC and 3000 BC were found to largely be genetically homogeneous, with little admixture occurring among them during this period. EHGs were found to be more closely related to SHGs than WHGs.[8]

 

 

 

 

Mesolithic European samples with estimates of genetic ancestry for SHG.[5]

 

Mathieson et al. (2015) subjected the six SHGs from Motala to further analysis. SHGs appeared to have persisted in Scandinavia until after 5,000 years ago. The Motala SHGs were found to be closely related to WHGs.[10]

Lazaridis et al. (2016) confirmed SHGs to be a mix of EHGs (~43%) and WHGs (~57%). WHGs were modeled as descentants of the Upper Paleolithic people (Cro-Magnon) of the Grotte du Bichon in Switzerland with minor additional EHG admixture (~7%). EHGs derived c. 75% of their ancestry from ANEs.[f]

 

Günther et al. (2018) examined the remains of seven SHGs. All three samples of Y-DNA extracted belonged to subclades of I2. With respects to mtDNA, four samples belonged to U5a1 haplotypes, while three samples belonged U4a2 haplotypes. All samples from western and northern Scandinavia carried U5a1 haplotypes, while all the samples from eastern Scandinavia except from one carried U4a2 haplotypes. The authors of the study suggested that SHGs were descended from a WHG population that had entered Scandinavia from the south, and an EHG population which had entered Scandinavia from the northeast along the coast. The WHGs who entered Scandinavia are believed to have belonged to the Ahrensburg culture. These WHGs and EHGs had subsequently mixed, and the SHGs gradually developed their distinct character. The SHGs from western and northern Scandinavia had more EHG ancestry (c. 49%) than individuals from eastern Scandinavia (c. 38%). The SHGs were found to have a genetic adaptation to high latitude environments, including high frequencies of low pigmentation variants and genes designed for adaptation to the cold and physical performance. SHGs displayed a high frequency of the depigmentation alleles SLC45A2 and SLC24A5, and the OCA/Herc2, which affects eye pigmentation. These genes were much less common among WHGs and EHGs. A surprising continuity was displayed between SHGs and modern populations of Northern Europe in certain respects. Most notably, the presence of the protein TMEM131 among SHGs and modern Northern Europeans was detected. This protein may be involved in long-term adaptation to the cold.[5]

 

 

 

 

 

Genetic proximity among Mesolithic European samples (PCA).[5]

 

 

In a genetic study published in Nature Communications in January 2018, the remains of an SHG female at Motala, Sweden between 5750 BC and 5650 BC was analyzed. She was found to be carrying U5a2d and "substantial ANE ancestry". The study found that Mesolithic hunter-gatherers of the eastern Baltic also carried high frequencies of the HERC2 allele, and increased frequencies of the SLC45A2 and SLC24A5 alleles. They however harbored less EHG ancestry than SHGs. Genetic continuity between the SHGs and the Pitted Ware culture of the Neolithic was detected. The results further underpinned previous suggestion that SHGs were descended from northward migration of WHGs and a subsequent southward migration of EHGs.[12] A certain degree of continuity between SHGs and northern Europeans was detected.[b]

 

A study published in Nature in February 2018 included an analysis of a large number of individuals of prehistoric Eastern Europe. Thirty-seven samples were collected from Mesolithic and Neolithic Ukraine (9500–6000 BC). These were determined to be an intermediate between EHG and SHG. Samples of Y-DNA extracted from these individuals belonged exclusively to R haplotypes (particularly subclades of R1b1 and R1a)) and I haplotypes (particularly subclades of I2). mtDNA belonged almost exclusively to U (particularly subclades of U5 and U4).[13]

 

2) Physical appearance[edit]

 

 

Reconstruction of a circa 7,000 BP Scandinavian Hunter-Gatherer by Oscar Nilsson, Trelleborgs Museum.[14][15]

 

 

 

According to Mathieson, et al. (2015), 50% of Scandinavian Hunter Gatherers from Motala carried the derived variant of EDAR-V370A. This variant is typical of modern East Asian populations, and is known to affect dental morphology[16] and hair texture, and also chin protrusion and ear morphology,[17] as well as other facial features.[18] The authors did not detect East Asian ancestry in the Scandinavian Hunter Gatherers, and speculated that this gene might not have originated in East Asia, as is commonly believed.[19] However, more recent research incorporating ancient Northeast Asian samples has confirmed that EDAR-V370A originated in Northeast Asia, and spread to West Eurasian populations such as Motala in the Holocene period.[20]

 

A study by Günther et al. (2018) found that SHGs "show a combination of eye color varying from blue to light brown and light skin pigmentation. This is strikingly different from the WHGs—who have been suggested to have the specific combination of blue eyes and dark skin and EHGs—who have been suggested to be brown-eyed and light-skinned".

 

Four SHGs from the study yielded diverse eye and hair pigmentation predictions: one individual (SF12) was predicted to be most likely to have had dark hair and blue eyes; a second individual (Hum2) most likely had dark hair and brown eyes; a third (SF9) was predicted to have had light hair and brown eyes; and a fourth individual (SBj) was predicted to have had light hair, with the most likely hair colour being blonde, and blue eyes.

Of the SHGs from Motala, four were probably dark-haired, and two others were probably light-haired, and may have been blond. In addition, all of the six SHGs from Motala had high probabilities of being blue-eyed.

 

 

Residual genetic ancestry of European hunter-gatherers during the European Neolithic, between 7.5 ka and 5 ka BP (c. 5,500~3,000 BC)

 

 

Both light and dark skin pigmentation alleles are found at intermediate frequencies in the Scandinavian Hunter Gatherers sampled, but only one individual had exclusively light-skin variants of two different SNPs.

The study found that depigmentation variants of genes for skin pigmentation (SLC24A5, SLC45A2) and eye pigmentation (OCA2/HERC2) are found at high frequency in SHGs relative to WHGs and EHGs, which the study suggests cannot be explained simply as a result of the admixture of WHGs and EHGs. The study argues that these allele frequencies must have continued to increase in SHGs after admixture, which was probably caused by environmental adaptation to high latitudes.[21]

 

On the basis of archaeological and genetic evidence, the Swedish archaeologist Oscar D. Nilsson has made forensic reconstructions of both male and female SHGs.[22][23][24]

 

 

3. Western Hunter Gatherers (WHG) (15,000 - 8,000 BP)

 

 

 

Genetic Ancestry of hunter-gatherers dated between 14ka and 9ka (WHG)

 

 

 

 

In archaeogenetics, the term Western Hunter-Gatherer (WHG), West European Hunter-Gatherer, Western European Hunter-Gatherer, Villabruna cluster, or Oberkassel cluster (c. 15,000~5,000 BP) is the name given to a distinct ancestral component of modern Europeans, representing descent from a population of Mesolithic hunter-gatherers who scattered over Western, Southern and Central Europe, from the British Isles in the west to the Carpathians in the east, following the retreat of the ice sheet of the Last Glacial Maximum.[2]

 

Along with the Scandinavian Hunter-Gatherers (SHG) and Eastern Hunter-Gatherers (EHG), the WHGs constituted one of the three main genetic groups in the postglacial period of early Holocene Europe.[3] The border between WHGs and EHGs ran roughly from the lower Danube, northward along the western forests of the Dnieper towards the western Baltic Sea.[2]

 

SHGs were in turn a nearly equal mix of WHGs and EHGs. Once the main population throughout Europe, the WHGs were largely displaced by successive expansions of Early European Farmers (EEFs) during the early Neolithic, but experienced a resurgence during the Middle Neolithic. During the Late Neolithic and Early Bronze Age, Western Steppe Herders (WSHs) from the Pontic–Caspian steppe embarked on a massive expansion, which further displaced the WHGs. Among modern-day populations, WHG ancestry is most common among populations of the eastern Baltic.[4]

 

1) Research[edit]

 

Western Hunter-Gatherers (WHG) are recognised as a distinct ancestral component contributing to the ancestry of most modern Europeans.[5] Most Europeans can be modeled as a mixture of WHG, EEF, and WSH from the Pontic–Caspian steppe.[6] WHGs also contributed ancestry to other ancient groups such as Early European Farmers (EEF), who were, however, mostly of Anatolian descent.[5] With the Neolithic expansion, EEF came to dominate the gene pool in most parts of Europe, although WHG ancestry had a resurgence in Western Europe from the Early Neolithic to the Middle Neolithic.[7]

 

2) Expansion into continental Europe (14,000 BP)[edit]

 

WHGs themselves are believed to have formed around 14,000 years ago, during the Bølling-Allerød interstadial, at the time of the first major warming period after the Ice Age. They represent a major population shift within Europe at the end of the Ice Age, probably a population expansion into continental Europe, from Southeastern European or West Asian refugia.[8] It is thought that their ancestors separated from eastern Eurasians around 40,000 BP, and from Ancient North Eurasians (ANE) prior to 24,000 BP (the estimated age date of the Mal'ta boy). This date was subsequently put further back in time by the findings of the Yana Rhinoceros Horn Site to around 38kya, shortly after the divergence of West-Eurasian and East-Eurasian lineages.[5][9] Vallini et al. 2022 argues that the dispersal and split patterns of West-Eurasian lineages was not earlier than c. 38,000 years ago, with older Upper-Paleolithic European specimens, such as Zlaty Kun and Bacho Kiro, being unrelated to Western Hunter-gatherers.[10] WHGs carried the paternal haplogroups C (specifically the clade C-V20/C1a2) and I. The paternal haplogroup C-V20 can still be found in men living in modern Spain, attesting to this lineage's longstanding presence in Western Europe. WHGs also carried the maternal haplogroup U5.[11][12]

 

 

 

 

Last Glacial Maximum refugia, c. 20,000 years ago

 

Solutrean and Proto Solutrean Cultures; Franco-Cantabrian region (주황색)

Epi gravettian culture[11] (분홍색)

 

 

In a genetic study published in Nature in March 2023, the authors found that the ancestors of the WHGs were populations associated with the Epigravettian culture, which largely replaced populations associated with the Magdalenian culture about 14,000 years ago (the ancestors of the Magdalenian-associated individuals were the populations associated with the western Gravettian, Solutrean and Aurignacian cultures).[11][13] In the study, WHG ancestry is renamed 'Oberkassel ancestry', first found north of the Alps in two 14,000 year-old individuals at the eponymous site at Oberkassel, who can be modeled as an admixture of Villabruna ancestry (itself modeled as an admixture between a lineage related to the Věstonice cluster and a lineage ancestral to the Kostenki-14 and Goyet Q116-1 individuals), and Goyet-Q2 ancestry related to individuals found in Europe prior to the Last Glacial Maximum. The study states that all of the individuals of the Oberkassel cluster could be modeled as c. 75% Villabruna and 25% Goyet-Q2 ancestry or, alternatively, as c. 90% Villabruna and 10% Fournol ancestry, a newly identified cluster described as a sister lineage of the Goyet Q116-1 ancestry found in individuals associated with the Gravettian culture of southwestern Europe.[11] The study suggests that Oberkassel ancestry was mostly already formed before expanding, possibly around the west side of the Alps, to Western and Central Europe and Britain, where sampled WHG individuals are genetically homogeneous. This is in contrast to the arrival of Villabruna and Oberkassel ancestry to Iberia, which seems to have involved repeated admixture events with local populations carrying high levels of Goyet-Q2 ancestry. This, and the survival of specific Y-DNA haplogroup C1 clades previously observed among early European hunter-gatherers, suggests relatively higher genetic continuity in southwest Europe during this period.[11]

 

There are indications that the WHG carried "risk alleles for diabetes and Alzheimer’s disease".[14]

 

 

 

 

Transition from Magdalenian Goyet ancestry (green , Goyet Q2) to Western Hunter Gatherer (WHG) Villabruna ancestry (orange ) in European sites, according to timeline and climate evolution.[15]

 

 

 

3) Interaction with other populations[edit]

 

 

Cheddar Man, found in Great Britain, was found to have the Western Hunter-Gatherer genotype.

 

 

The WHG were also found to have contributed ancestry to populations on the borders of Europe such as early Anatolian farmers and Ancient Northwestern Africans,[16] as well as other European groups such as Eastern Hunter-Gatherers.[17] The relationship of WHGs to the EHGs remains inconclusive.[17] EHGs are modeled to derive varying degrees of ancestry from a WHG-related lineage, ranging from merely 25% to up to 91%, with the remainder being linked to geneflow from Paleolithic Siberians (ANE) and perhaps Caucasus hunter-gatherers. Another lineage known as the Scandinavian Hunter-Gatherers (SHGs) were found to be a mix of EHGs and WHGs.[a][19][20]

 

People of the Mesolithic Kunda culture and the Narva culture of the eastern Baltic were a mix of WHG and EHG,[21] showing the closest affinity with WHG. Samples from the Ukrainian Mesolithic and Neolithic were found to cluster tightly together between WHG and EHG, suggesting genetic continuity in the Dnieper Rapids for a period of 4,000 years. The Ukrainian samples belonged exclusively to the maternal haplogroup U, which is found in around 80% of all European hunter-gatherer samples.[22]

 

People of the Pit–Comb Ware culture (CCC) of the eastern Baltic were closely related to EHG.[23] Unlike most WHGs, the WHGs of the eastern Baltic did not receive European farmer admixture during the Neolithic. Modern populations of the eastern Baltic thus harbor a larger amount of WHG ancestry than any other population in Europe.[21]

 

SHGs have been found to contain a mix of WHG components who had likely migrated into Scandinavia from the south, and EHGs who had later migrated into Scandinavia from the northeast along the Norwegian coast. This hypothesis is supported by evidence that SHGs from western and northern Scandinavia had less WHG ancestry (ca 51%) than individuals from eastern Scandinavia (ca. 62%). The WHGs who entered Scandinavia are believed to have belonged to the Ahrensburg culture. EHGs and WHGs displayed lower allele frequencies of SLC45A2 and SLC24A5, which cause depigmentation, and OCA/Herc2, which causes light eye color, than SHGs.[24]

 

 

The rock shelter where the skeleton of the Loschbour man (c. 8,000 BP) was found

 

 

The DNA of eleven WHGs from the Upper Palaeolithic and Mesolithic in Western Europe, Central Europe and the Balkans was analyzed, with regards to their Y-DNA haplogroups and mtDNA haplogroups. The analysis suggested that WHGs were once widely distributed from the Atlantic coast in the West, to Sicily in the South, to the Balkans in the Southeast, for more than six thousand years.[25] The study also included an analysis of a large number of individuals of prehistoric Eastern Europe. Thirty-seven samples were collected from Mesolithic and Neolithic Ukraine (9500-6000 BC). These were determined to be an intermediate between EHG and SHG, although WHG ancestry in this population increased during the Neolithic. Samples of Y-DNA extracted from these individuals belonged exclusively to R haplotypes (particularly subclades of R1b1) and I haplotypes (particularly subclades of I2). mtDNA belonged almost exclusively to U (particularly subclades of U5 and U4).[25] A large number of individuals from the Zvejnieki burial ground, which mostly belonged to the Kunda culture and Narva culture in the eastern Baltic, were analyzed. These individuals were mostly of WHG descent in the earlier phases, but over time EHG ancestry became predominant. The Y-DNA of this site belonged almost exclusively to haplotypes of haplogroup R1b1a1a and I2a1. The mtDNA belonged exclusively to haplogroup U (particularly subclades of U2, U4 and U5).[25] Forty individuals from three sites of the Iron Gates Mesolithic in the Balkans were also analyzed. These individuals were estimated to be of 85% WHG and 15% EHG descent. The males at these sites carried exclusively haplogroup R1b1a and I (mostly subclades of I2a) haplotypes. mtDNA belonged mostly to U (particularly subclades of U5 and U4).[25] People of the Balkan Neolithic were found to harbor 98% Anatolian ancestry and 2% WHG ancestry. By the Chalcolithic, people of the Cucuteni–Trypillia culture were found to harbor about 20% hunter-gatherer ancestry, which was intermediate between EHG and WHG. People of the Globular Amphora culture were found to harbor ca. 25% WHG ancestry, which is significantly higher than Middle Neolithic groups of Central Europe.[25]

 

4) Replacement by Neolithic farmers[edit]

 

Further information: Neolithic Europe and Genetic history of Europe

 

 

 

Residual genetic ancestry of European hunter-gatherers during the European Neolithic, between 7.5 ka and 5 ka BP (c. 5,500~3,000 BC)

 

 

Simplified model for the demographic history of Europeans during the Neolithic period in the introduction of agriculture[26]

 

 

A seminal 2014 study first identified the contribution of three main components to modern European lineages: the Western Hunter Gatherers (WHG, in proportions of up to 50% in Northern Europeans), the Ancient North Eurasians (ANE, Upper Palaeolithic Siberians later associated with the later Indo-European expansion, present in proportions up to 20%), and finally the Early European Farmers (EEF, agriculturists of mainly Near Eastern origin who migrated to Europe from circa 8,000 BP, now present in proportions from around 30% in the Baltic region to around 90% in the Mediterranean). The Early European Farmer (EEF) component was identified based on the genome of a woman buried c. 7,000 years ago in a Linear Pottery culture grave in Stuttgart, Germany.[27]

 

This 2014 study found evidence for genetic mixing between WHG and EEF throughout Europe, with the largest contribution of EEF in Mediterranean Europe (especially in Sardinia, Sicily, Malta and among Ashkenazi Jews), and the largest contribution of WHG in Northern Europe and among Basque people.[28]

 

Since 2014, further studies have refined the picture of interbreeding between EEF and WHG. In a 2017 analysis of 180 ancient DNA datasets of the Chalcolithic and Neolithic periods from Hungary, Germany and Spain, evidence was found of a prolonged period of interbreeding. Admixture took place regionally, from local hunter-gatherer populations, so that populations from the three regions (Germany, Iberia and Hungary) were genetically distinguishable at all stages of the Neolithic period, with a gradually increasing ratio of WHG ancestry of farming populations over time. This suggests that after the initial expansion of early farmers, there were no further long-range migrations substantial enough to homogenize the farming population, and that farming and hunter-gatherer populations existed side by side for many centuries, with ongoing gradual admixture throughout the 5th to 4th millennia BC (rather than a single admixture event on initial contact).[29] 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%.[30]

 

Analysis of remains from the Grotta Continenza in Italy showed that out of six remains, three buried between c. 10,000 BC and 7000 BC belonged to I2a-P214; and two-times the maternal haplogroups U5b1 and one U5b3.[31][32] Around 6000 BC, the WHGs of Italy were almost completely genetically replaced by EEFs (two G2a2) and one Haplogroup R1b, although WHG ancestry slightly increased in subsequent millennia.[33]

 

Neolithic individuals in the British Isles were close to Iberian and Central European Early and Middle Neolithic populations, modeled as having about 75% ancestry from EEF with the rest coming from WHG in continental Europe. They subsequently replaced most of the WHG population in the British Isles without mixing much with them.[34]

 

The WHG are estimated to have contributed between 20-30% ancestry to Neolithic EEF groups throughout Europe. Specific adaptions against local pathogens may have been introduced via the Mesolithic WHG admixture into Neolithic EEF populations.[35]

 

5) Physical appearance[edit]

 

 

Reconstructed head of the Cheddar Man, found in England (carbon-dated c. 8540-8230 BC), based on the shape of his skull and DNA analysis, shown at the National History Museum in London (2019).[36][37] The interpretation that Cheddar Man had dark skin has been questioned by some geneticists.[38]

 

 

According to David Reich, DNA analysis has shown that Western Hunter Gatherers were typically dark skinned, dark haired, and blue eyed.[39] The dark skin was due to their relatively recent Out-of-Africa origin (all Homo sapiens populations having had initially dark skin), while the blue eyes were the result of a variation in their OCA2 gene, which caused iris depigmentation.[40]

 

Archaeologist Graeme Warren has said that their skin color ranged from olive to black, and speculated that they may have had some regional variety of eye and hair colors.[41] This is strikingly different from the distantly related Eastern Hunter-Gatherers (EHG)—who have been suggested to be light-skinned, brown-eyed or blue eyed and dark-haired or light-haired.[42]

 

Two WHG skeletons with incomplete SNPs, La Braña and Cheddar Man, are predicted to have had dark or dark-to-black skin, whereas two other WHG skeletons with complete SNPs, "Sven" and Loschbour man, are predicted to have had dark/intermediate and intermediate skin, respectively.[43][24][b] Spanish biologist Carles Lalueza-Fox said the La Braña-1 individual had dark skin, "although we cannot know the exact shade."[45]

 

According to a 2020 study, the arrival of Early European Farmers (EEFs) from western Anatolia from 8500 to 5000 years ago, along with Western Steppe Herders during the Bronze Age, caused a rapid evolution of European populations towards lighter skin and hair.[40] Admixture between hunter-gatherer and agriculturist populations was apparently occasional, but not extensive.[46]

 

 

Evolution of Upper Paleolithic and Neolithic phenotypes in Eurasia. Dark-skinned Western Hunter-Gatherers resided in Western Europe, and expanded to some extent towards north and eastern Europe.[40]

 

 

 

Some authors have expressed caution regarding skin pigmentation reconstructions: Quillen et al. (2019) acknowledge studies that generally show that "lighter skin color was uncommon across much of Europe during the Mesolithic", including studies regarding the “dark or dark to black” predictions for the Cheddar Man, but warn that "reconstructions of Mesolithic and Neolithic pigmentation phenotype using loci common in modern populations should be interpreted with some caution, as it is possible that other as yet unexamined loci may have also influenced phenotype."[47]

 

Geneticist Susan Walsh at Indiana University–Purdue University Indianapolis, who worked on Cheddar Man project, said that "we simply don't know his skin colour".[38] German biochemist Johannes Krause stated that we do not know whether the skin color of Western European hunter-gatherers was more similar to the skin color of people from present-day Central Africa or people from the Arab region. It is only certain that they did not carry any known mutation responsible for the light skin in subsequent populations of Europeans.[48]

 

 

 

II. Other Categories of European Ancestry

 

 

1. Caucasus Hunter Gatherers (CHG)

 

 

Caucasus hunter-gatherer (CHG), also called Satsurblia cluster,[1] is an anatomically modern human genetic lineage, first identified in a 2015 study,[2][3] based on the population genetics of several modern Western Eurasian (European, Caucasian and Near Eastern) populations.[4][5]

 

 

 

Genetic structure of ancient Europe. Caucasus hunter-gatherers are represented by the Satsurbila and Kotias specimens.

 

 

Genetic affinity of modern populations to the ancient Kotias specimen.

 

Admixture graph of deep Eurasian lineages (Allentoft et al. 2024)

 

The CHG lineage is suggested to have diverged from the ancestor of Western Hunter-Gatherers (WHGs) probably during the Last Glacial Maximum (sometimes between 45,000 to 26,000 years ago).[6] They further separated from the "Anatolian Hunter Gatherer" (AHG) lineage later, suggested to around 25,000 years ago during the late LGM period.[3][7] The Caucasus hunter-gatherers managed to survive in isolation since the late LGM period as a distinct population, and display high genetic affinities to Mesolithic and Neolithic populations on the Iranian plateau, such as a Neolithic specimen found in Ganj Dareh. The CHG display higher genetic affinities to European and Anatolian groups than Iranian hunter-gatherers do, suggesting a possible cline and geneflow into the CHG and less into Mesolithic and Neolithic Iranian groups.[2][8] The Mesolithic/Neolithic Iranian lineage and the Caucasus hunter-gatherers derive significant amounts of their ancestry from Basal Eurasian (up to 66%; 66±13%), with the remainder ancestry being closer to Ancient North Eurasians (ANE). The CHG displayed a higher ANE component than the Neolithic Iranians, suggesting they may have stood in continuous contact with Eastern Hunter-Gatherers to their North.[2][9]

 

At the beginning of the Neolithic, at c. 8000 BC, they were probably distributed across western Iran and the Caucasus,[10] and people similar to northern Caucasus and Iranian plateau hunter-gatherers arrived before 6000 BC in Pakistan and north-west India.[11] A roughly equal merger between the CHG and Eastern Hunter-Gatherers in the Pontic–Caspian steppe resulted in the formation of the Western Steppe Herders (WSHs). The WSHs formed the Yamnaya culture and subsequently expanded massively throughout Europe during the Late Neolithic and Early Bronze Age circa 3000-2000 BC.[12]

 

1) Research[edit]

 

 

One of the Caucasus hunters was unearthed at Satsurblia cave in Georgia.

 

See also: Genetic history of the Middle East and Genetic history of Europe

 

Jones et al. (2015) analyzed genomes from males from western Georgia, in the Caucasus, from the Late Upper Palaeolithic (13,300 years old) and the Mesolithic (9,700 years old). These two males carried Y-DNA haplogroup: J* and J2a, later refined to J1-FT34521, and J2-Y12379*, and mitochondrial haplogroups of K3 and H13c, respectively.[13] Their genomes showed that a continued mixture of the Caucasians with Middle Eastern populations took place up to 25,000 years ago, when the coldest period in the last Ice Age started.[4]

 

CHG ancestry was also found in an Upper Palaeolithic specimen from Satsurblia cave (dated ca. 11000 BC), and in a Mesolithic one from Kotias Klde cave, in western Georgia (dated ca. 7700 BC). The Satsurblia individual is closest to modern populations from the South Caucasus.[2]

 

Vallini et al. 2022 argues that the dispersal and split patterns of West Eurasian lineages was not earlier than c. 38,000 years ago, with older Upper-Paleolithic European specimens, such as Zlaty Kun and Bacho Kiro, being unrelated to Western Hunter-gatherers.[14]

 

Margaryan et al. (2017) analysing South Caucasian ancient mitochondrial DNA found a rapid increase of the population at the end of the Last Glacial Maximum, about 18,000 years ago. The same study also found continuity in descent in the maternal line for 8,000 years.[15]

 

According to Narasimhan et al. (2019) Iranian farmer related people arrived before 6000 BCE in Pakistan and north-west India, before the advent of farming in northern India. They suggest the possibility that this "Iranian farmer–related ancestry [...] was [also] characteristic of northern Caucasus and Iranian plateau hunter-gatherers."[11]

 

Allentoft et al. 2024 modeled the CHG lineage to have formed as sister lienage of Mesolithic/Neolithic Iranians, themself deriving appopximately 52% ancestry from Ancient North Eurasians and 48% ancestry from Basal Eurasians, with additional geneflow from a Paleolithic Caucasus/Anatolian source (Dzudzuana; c. 20%) and ANE-like ancestry (c. 10%).[16]

 

2) Proto-Indo Europeans[edit]

 

 

 

 

 

Main genetic ancestries of Western Steppe Herders (Yamnaya pastoralists): a confluence of Eastern Hunter-Gatherers (EHG) and Caucasus Hunter-Gatherers (CHG).[17]

 

The ancestry of the Yamnaya people can be mostly modelled as an admixture of Eastern Hunter-Gatherers (EHGs) and a Near Eastern component related to Caucasus hunter-gatherers, Iranian Chalcolithic people, or a genetically similar population.[18][2][19][4][note 1] Each of those two populations contributed about half the Yamnaya DNA.[20][4] According to co-author 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-gatherers and a population from this pocket of Caucasus hunter-gatherers who weathered much of the last Ice Age in apparent isolation.[4]

 

According to Jones et al. (2015), Caucasus hunter-gatherers (CHG) "genomes significantly contributed to the Yamnaya steppe herders who migrated into Europe ~3,000 BCE, supporting a formative Caucasus influence on this important Early Bronze Age culture. CHG left their imprint on modern populations from the Caucasus and also Central and South Asia possibly correlating with the arrival of Indo-Aryan languages."[21]

 

Lazaridis et al. (2016) proposes a different people, likely from Iran, as the source for the Middle Eastern ancestry of the Yamnaya people, finding that "a population related to the people of the Iran Chalcolithic contributed ~43% of the ancestry of early Bronze Age populations of the steppe".[22][note 2] That study asserts that these Iranian Chalcolithic people were a mixture of "the Neolithic people of western Iran, the Levant, and Caucasus Hunter Gatherers".[22]

 

Gallego-Llorente et al. (2016) conclude that Iranian populations are not a likelier source of the 'southern' component in the Yamnaya than Caucasus hunter-gatherers.[23]

 

Wang et al. (2018) analysed genetic data of the North Caucasus of fossils dated between the 4th and 1st millennia BC and found correlation with modern groups of the South Caucasus, concluding that "unlike today – the Caucasus acted as a bridge rather than an insurmountable barrier to human movement".[24]

 

While some argue that the Pre-Proto-Indo-European language may have originated among a CHG-rich population in Western Asia,[25] others, such as David W. Anthony, suggest that the Indo-European languages were initially spoken by EHGs living in Eastern Europe.[26]

 

3) Ancient Greece and Aegean[edit]

 

Beyond contributing to the population of mainland Europe through Bronze Age pastoralists of the Yamnaya, CHG also appears to have arrived on its own in the Aegean without Eastern European hunter–gatherer (EHG) ancestry and provided approximately 9–32% of ancestry to the Minoans. The origin of this CHG component might have been Central Anatolia.[27]

 

 

 

2. Anatolian Hunter Gatherers (AHG) (15,000 - 8,000 BP)

 

Anatolian hunter-gatherer (AHG) is a distinct anatomically modern human archaeogenetic lineage, first identified in a 2019 study based on the remains of a single Epipaleolithic individual found in central Anatolia, radiocarbon dated to around 13,500 BCE. A population related to this individual was the main source of the ancestry of later Anatolian Neolithic Farmers (also known as Early European Farmers), who along with Western Hunter Gatherers (WHG) and Ancient North Eurasians (via Eastern Hunter Gatherers and or Western Steppe Herders) are one of the three currently known ancestral genetic contributors to present-day Europeans.[1]

 

1) Introduction[edit]

 

 

Remains of the first anatolian hunter-gatherer discovered. Dated at 13,642-13,073 cal BCE.

 

 

The existence of this ancient population has been inferred through the genetic analysis of the remains of a man from the site of Pınarbaşı (37 ° 29'N, 33 ° 02'E), in central Anatolia, which has been dated at 13,642-13,073 cal BCE. This population is genetically differentiated from the rest of the known Pleistocene populations. [1]

 

It has been discovered that populations of the Anatolian Neolithic (Anatolian Neolithic Farmers) derive most of their ancestry from the AHG, with minor gene flow from Iranian/Caucasus and Levantine sources, suggesting that agriculture was adopted in situ by these hunter-gatherers and not spread by demic diffusion into the region. [1]

 

The Anatolian hunter-gatherers began farming around 8300 BC,[2] at places such as Çayönü. Cows, sheep and goats may have been domesticated first in southern Turkey.[3] These farmers moved into Thrace (now European Turkey) around 7000 BC.[4]

 

2) Genetics[edit]

 

 

 

Principal component analysis, location and datation of the individuals analyzed in Feldman et al. (2019). The PCA shows the genetic affinities of Anatolian hunter-gatherers with other ancient populations.

 

At the autosomal level, in the Principal component analysis (PCA) the analyzed AHG individual turns out to be close to two later Anatolian populations, the Anatolian Aceramic Farmers (AAF) dating from 8300-7800 BCE, and the Anatolian Ceramic Farmers (ACF) dating from 7000-6000 BCE. These early Anatolian farmers later replaced the European hunter-gatherer populations in Europe to a large extent, ultimately becoming the main genetic contribution to current European populations, especially those of the Mediterranean. In addition, their position in this analysis is intermediate between Natufian farmers and Western Hunter-Gatherers (WHG). This last point is confirmed by the ADMIXTURE and qp-Adm analysis and confirms the presence of hunter-gatherers of both European and Near-Eastern origins in Central Anatolia in the late Pleistocene. Mesolithic individuals from the Balkans, known as Iron Gates Hunter-Gatherers, are the most genetically similar group to the Anatolian Hunter-Gatherer lineage. Feldman et al. suggest that this affinity is not due to a genetic flow from the AHG to the ancestors of the Villabruna cluster, but on the contrary: there was a genetic flow from the ancestors of the Villabruna cluster to the ancestors of the AHG.[1]

 

The AHG diverged from Caucasus hunter-gatherer around 25,000 years ago.[citation needed]

 

3) Uniparental markers[edit]

 

The individual analyzed belongs to Y-chromosomal haplogroup C1a2 (C-V20), which has been found in some of the early WHGs, and mitochondrial haplogroup K2b. Both paternal and maternal lineages are rare in present-day Eurasian populations.[1]

 

 

 

3. Western Steppe Herders (WSH)

 

 

 

The eastern part of the Corded Ware culture contributed to the Sintashta culture (c. 2100–1800 BC), where the Indo-Iranian languages and culture emerged.

 

 

 

 

 

 

 

 

 

Main genetic ancestries of Western Steppe Herders (Yamnaya pastoralists): a confluence of Eastern Hunter-Gatherers (EHG) and Caucasus Hunter-Gatherers (CHG).[1]

 

 

 

Scheme of Indo-European migrations from c. 4000 to 1000 BC according to the widely held Kurgan hypothesis. These migrations are thought to have spread WSH ancestry and Indo-European languages throughout large parts of Eurasia.[2][3][4]

 

In archaeogenetics, the term Western Steppe Herders (WSH), or Western Steppe Pastoralists, is the name given to a distinct ancestral component first identified in individuals from the Chalcolithic steppe around the turn of the 5th millennium BC, subsequently detected in several genetically similar or directly related ancient populations including the Khvalynsk, Sredny Stog, and Yamnaya cultures, and found in substantial levels in contemporary European, West Asian and South Asian populations.[a][b] This ancestry is often referred to as Yamnaya ancestry, Yamnaya-related ancestry, Steppe ancestry or Steppe-related ancestry.[6]

 

Western Steppe Herders are considered to be descended from a merger between Eastern Hunter-Gatherers (EHGs) and Caucasus Hunter-Gatherers (CHGs). The WSH component is modeled as an admixture of EHG and CHG ancestral components in roughly equal proportions, with the majority of the Y-DNA haplogroup contribution from EHG males. The Y-DNA haplogroups of Western Steppe Herder males are not uniform, with the Yamnaya culture individuals mainly belonging to R1b-Z2103 with a minority of I2a2, the earlier Khvalynsk culture also with mainly R1b but also some R1a, Q1a, J, and I2a2, and the later, high WSH ancestry Corded Ware culture individuals mainly belonging to haplogroup R1b in the earliest samples, with R1a-M417 becoming predominant over time.[7][8][9]

 

Around 3,000 BC, people of the Yamnaya culture or a closely related group,[2] who had high levels of WSH ancestry with some additional Neolithic farmer admixture,[5][10] embarked on a massive expansion throughout Eurasia, which is considered to be associated with the dispersal of at least some of the Indo-European languages by most contemporary linguists, archaeologists, and geneticists. WSH ancestry from this period is often referred to as Steppe Early and Middle Bronze Age (Steppe EMBA) ancestry.[c]

 

This migration is linked to the origin of both the Corded Ware culture, whose members were of about 75% WSH ancestry, and the Bell Beaker ("Eastern group"), who were around 50% WSH ancestry, though the exact relationships between these groups remains uncertain.[11]

 

The expansion of WSHs resulted in the virtual disappearance of the Y-DNA of Early European Farmers (EEFs) from the European gene pool, significantly altering the cultural and genetic landscape of Europe. During the Bronze Age, Corded Ware people with admixture from Central Europe remigrated onto the steppe, forming the Sintashta culture and a type of WSH ancestry often referred to as Steppe Middle and Late Bronze Age (Steppe MLBA) or Sintashta-related ancestry.[c]

 

Through the Andronovo culture and Srubnaya culture, Steppe MLBA was carried into Central Asia and South Asia along with Indo-Iranian languages, leaving a long-lasting cultural and genetic legacy.

 

The modern population of Europe can largely be modeled as a mixture of WHG (Western Hunter-Gatherer), EEF and WSH. According to a 2024 study, WSH ancestry peaks in Ireland, Iceland, Norway and Sweden.[12] In South Asia, it peaks among the Kalash, Ror, Brahmin and Bhumihar.[2][4][13] The modern day Yaghnobis, an Eastern Iranian peoples, and to a lesser extent modern-day Tajiks, display genetic continuity to Iron Age Central Asian Indo-Iranians, and may be used as proxy for the source of "Steppe ancestry" among many Central Asian and Middle Eastern groups.[14][15][16][17]

 

1) Summary[edit]

 

 

 

 

 

Migration of Yamnaya-related people, according to Anthony (2007),[18] (2017);[19] Narasimhan et al. (2019);[4] Nordqvist & Heyd (2020):[20]

3000 BC: Initial eastward migration initiating the Afanasievo culture, possibly Proto-Tocharian.

2900 BC: North-westward migrations carrying Corded Ware culture, transforming into Bell Beaker; according to Anthony, westward migration west of Carpatians into Hungary as Yamnaya, transforming into Bell Beaker, possibly ancestral to Italo-Celtic (disputed).

2700 BC: Second eastward migration starting east of Carpatian mountains as Corded Ware, transforming into Fatyanovo-Balanova; (2800 BCE) -> Abashevo; (2200 BCE) -> Sintashta; (2100-1900 BCE) -> Andronovo; (1900-1700 BCE) -> Indo-Aryans.

 

 

 

Admixture proportions of Yamnaya populations. They combined Eastern Hunter Gatherer ( EHG), Caucasian Hunter-Gatherer ( CHG), Anatolian Neolithic ( ) and Western Hunter Gatherer ( WHG) ancestry.[21]

 

A summary of several genetic studies published in Nature and Cell during the year 2015 is given by Heyd (2017):

• Western Steppe Herders component "is lower in southern Europe and higher in northern Europe", where inhabitants have roughly 50% WSH ancestry on average. (Haak et al. 2015; Lazaridis et al. 2016)
• It is linked to the migrations of Yamnaya populations dated to ca. 3000 BC (Allentoft et al. 2015; Haak et al. 2015);
• Third-millennium Europe (and prehistoric Europe in general) was "a highly dynamic period involving large-scale population migrations and replacement" (Allentoft et al. 2015);
• The Yamnaya migrations are linked to the spread of Indo-European languages (Allentoft et al. 2015; Haak et al. 2015);
• The plague (Yersinia pestis) spread into Europe during the third millennium BC (Rasmussen et al. 2015), and it stemmed from migrations from the Eurasian steppes;
• Yamnaya peoples have the highest ever calculated genetic selection for stature (Mathieson et al. 2015);

 

2) Nomenclature and definition[edit]

 

'Steppe ancestry' can be classified into at least three distinctive clusters. In its simplest and earliest form, it can be modelled as an admixture of two highly divergent ancestral components; a population related to Eastern Hunter-Gatherers (EHG) as the original inhabitants of the European steppe in the Mesolithic, and a population related to Caucasus Hunter-Gatherers (CHG) that had spread northwards from the Near East. This ancestry profile is known as 'Eneolithic Steppe' ancestry, or 'pre-Yamnaya ancestry', and is represented by ancient individuals from the Khvalynsk II and Progress 2 archaeological sites. These individuals are chronologically intermediate between EHGs and the later Yamnaya population, and harbour very variable proportions of CHG ancestry.[22][23][10]

 

The later Yamnaya population can be modelled as an admixed EHG-related/CHG-related population with additional (c. 14%) Anatolian Farmer ancestry with some Western Hunter-Gatherer admixture, or alternatively can be modelled as a mixture of EHG, CHG, and Iranian Chalcolithic ancestries. This ancestry profile is not found in the earlier Eneolithic steppe or Steppe Maykop populations. In addition to individuals of the Yamnaya culture, very similar ancestry is also found in individuals of the closely related Afanasievo culture near the Altai Mountains and the Poltavka culture on the Middle Bronze Age steppe. This genetic component is known as Steppe Early to Middle Bronze Age (Steppe EMBA), or Yamnaya-related ancestry.[22][10]

 

Expansions of Yamnaya-related populations to Eastern and Central Europe resulted in the formation of populations with admixed EMBA Steppe and Early European Farmer ancestry, such as the ancient individuals of the Corded Ware and Bell beaker cultures. In the eastern Corded Ware culture, the Fatyanovo-Balanovo group may have been the source of a back migration onto the steppe and further to the east, resulting in the formation of the Srubnaya, Sintashta, and Andronovo cultures. The genetic cluster represented by ancient individuals from these cultures is known as Steppe Middle to Late Bronze Age (Steppe MLBA) ancestry.[22][10]

 

3) Origins and expansion[edit]

 

(1) Steppe Eneolithic[edit]

 

The precise location of the initial formation of so-called 'Eneolithic steppe' ancestry, which can be modeled as a relatively simple admixture of EHG and Near Eastern (CHG-related) populations, remains uncertain.[4][10]

 

Admixture between populations with Near Eastern ancestry and the EHG on the Pontic-Caspian steppe had begun by the fifth millennium BC, predating the Yamnaya culture by at least 1,000 years.[24][5]

 

This early, 'pre-Yamnaya' ancestry was first detected in Eneolithic individuals at the Khvalynsk II cemetery and directly north of the Caucasus mountains at the Progress 2 archaeological site; this ancestry is also detected in individuals of the Steppe Maykop culture, but with additional Siberian and Native American-related admixture.[25][5]

 

The individuals from Khvalynsk comprise a genetically heterogeneous population, with some more similar to EHGs and others closer to the later Yamnaya population. On average, these individuals can be modelled as around three-quarters EHG and one-quarter Near Eastern ("Armenian related") ancestry. These three individuals belong to Y-chromosome haplogroups R1a (which is not found in later elite Yamnaya graves), R1b, and Q1a, the first two of which are found in preceding EHG populations, which suggests continuity with the preceding EHG population.[24][10]

 

Three individuals from the Progress 2 site in the foothills north of the Caucasus also harbour EHG and CHG related ancestry, and are genetically similar to Eneolithic individuals from Khvalynsk II but with higher levels of CHG-related ancestry that are comparable to the later Yamnaya population.[5][26]

 

Archaeologist David Anthony speculates that the Khvalynsk/Progress-2 mating network, located between the middle Volga and the North Caucasus foothills, makes a "plausible genetic ancestor for Yamnaya".[26]

 

(2) Steppe Early to Middle Bronze Age[edit]

 

 

 

 

 

Scheme of Indo-European migrations from c. 3000 to 800 BC

 

Early Yamnaya individuals, the Afanasievo population, and the individuals of the Poltavka and Catacomb cultures that followed the Yamnaya on the steppe comprise a genetically almost indistinguishable cluster, carrying predominantly R1b Y-DNA haplogroups with a minority of I2a.[24][10]

 

When the first Yamnaya whole genome sequences were published in 2015, Yamnaya individuals were reported to have no Anatolian Farmer ancestry,[2][27][24] but following larger studies it is now generally agreed that Yamnaya had around 14% Anatolian Farmer ancestry, with an additional small WHG component, which was not present in the previous Eneolithic steppe individuals.[26][10][28]

 

The actual populations involved in the formation of the Yamnaya cluster remain uncertain. Proposed models have included admixture of an EHG/CHG population with European Farmers to the west (such as those of the Globular Amphorae culture or a genetically similar population), a two-way admixture of EHGs with an Iran Chalcolithic population, and a three-way admixture of EHG, CHG, and Iran Chalcolithic populations.[5][13][10]

 

A 2022 study concludes that Yamnaya ancestry can be modelled as a mixture of an as yet unsampled admixed EHG/CHG population with a second source from the south Caucasus, and rejects Khvalynsk Eneolithic as a source population for the Yamnaya cluster. The study also contradicts suggestions that European farmer populations of the Cucuteni-Trypillia and Globular Amphora cultures contributed ancestry to Yamnaya, as Yamnaya lack the additional hunter-gatherer ancestry found in European farmers, and carry equal proportions of Anatolian and Levantine ancestry, unlike European farmers who carry predominantly Anatolian ancestry.[10]

 

(3) Corded Ware and Bell Beaker[edit]

 

Genetic evidence demonstrates a major and relatively sudden population turnover in Europe during the early third millennium BC, resulting in the rapid spread of steppe ancestry along with the Corded Ware and Bell Beaker cultures.[2][9]

 

Corded Ware individuals have been shown to be genetically distinct from preceding European Neolithic cultures of North-Central and Northeastern Europe, with around 75% of their ancestry derived from a Yamnaya-like population.[2][9]

 

The earliest Corded Ware individuals are genetically close to Yamnaya. Admixture with local Neolithic populations resulted in later individuals genetically intermediate between Yamnaya and individuals of the Globular Amphora Culture.[9]

 

A 2021 study suggests that Early Corded Ware from Bohemia can be modelled as a three way mixture of Yamnaya-like and European Neolithic-like populations, with an additional c. 5% to 15% contribution from a northeast European Eneolithic forest-steppe group (such as Pitted Ware, Latvia Middle Neolithic, Ukraine Neolithic, or a genetically similar population), a cluster the authors term 'Forest Steppe' ancestry.[9]

In the Bell Beaker culture, high proportions (c. 50%) of steppe related ancestry are found in individuals from Germany, the Czech Republic, and Britain. The genetic turnover is most substantial in Britain, where around 90% of the gene pool was replaced within a few hundred years.[28][29]

 

The earliest Bell Beaker individuals from Bohemia harbouring Steppe ancestry are genetically similar to Corded Ware individuals, which suggests continuity between these two groups. Later Bell Beaker individuals have an additional c. 20% Middle Eneolithic ancestry.[9][29]

 

(4) Steppe Middle to Late Bronze Age[edit]

 

 

 

The eastern part of the Corded Ware culture contributed to the Sintashta culture (c. 2100–1800 BC), where the Indo-Iranian languages and culture emerged.

 

Bronze Age individuals from the Sintashta culture in the southern Urals and the closely related Andronovo culture in Central Asia, as well as the Srubnaya culture on the Pontic Caspian steppe, all carry substantial levels of Yamnaya-related ancestry, with additional European Farmer admixture, an ancestry known as Steppe Middle to Late Bronze Age ancestry (Steppe MLBA), which developed with the formation of the Corded Ware culture who may also be included in this cluster. Individuals from the Sintashta, Andronovo, and Srubnaya cultures are all genetically similar and may ultimately descend from a secondary migration of the Fatyanovo population, an eastern Corded Ware group.[10][4][30][27]

 

This Steppe MLBA cluster may be further divided into a 'Western Steppe MLBA cluster', who may be modelled as around two thirds Yamnaya-related ancestry and one third European Farmer ancestry, and a 'Central Steppe MLBA cluster', which can be modelled as Western MLBA with around 9% West Siberian Hunter Gatherer (WSHG) ancestry. It has been suggested that the Central Steppe MLBA cluster was the main vector for the spread of Yamnaya-related ancestry to South Asia in the early 2nd millennium BC.[4]

 

Studies[edit]

 

Haak et al (2015), Massive migration from the steppe was a source for Indo-European languages in Europe[edit]

 

Haak et al. (2015) found the ancestry of the people of the Yamnaya culture to be a mix of Eastern Hunter-Gatherer and another unidentified population. All seven Yamnaya males surveyed were found to belong to subclade R-M269 of haplogroup R1b. R1b had earlier been detected among EHGs living further north.[2]

 

The study found that the tested individuals of the Corded Ware culture were of approximately 75% WSH ancestry, being descended from Yamnaya or a genetically similar population who had mixed with Middle Neolithic Europeans. This suggested that the Yamnaya people or a closely related group embarked on a massive expansion ca. 3,000 BC, which probably played a role in the dispersal of at least some of the Indo-European languages in Europe.

 

At this time, Y-DNA haplogroups common among Early European Farmers (EEFs), such as G2a, disappear almost entirely in Central Europe, and are replaced by WSH/EHG paternal haplogroups which were previously rare (R1b) or unknown (R1a) in this region. EEF mtDNA decreases significantly as well, and is replaced by WSH types, suggesting that the Yamnaya expansion was carried out by both males and females.[31]

 

In the aftermath of the Yamnaya expansion there appears to have been a resurgence of EEF and Western Hunter-Gatherer (WHG) ancestry in Central Europe, as this is detected in samples from the Bell Beaker culture and its successor the Unetice culture.[2] The Bell Beaker culture had about 50%

WSH ancestry.[28]

 

All modern European populations can be modeled as a mixture of WHG, EEF and WSH. WSH ancestry is more common in Northern Europe than Southern Europe. Of modern populations surveyed in the study, Norwegians were found to have the largest amount of WSH ancestry, which among them exceeded 50%.[2]

 

Allentoft et al. (2015), Population genomics of Bronze Age Eurasia[edit]

 

Allentoft et al. (2015) examined the Y-DNA of five Yamnaya males. Four belonged to types of R1b1a2, while one belonged to I2a2a1b1b. The study found that the Neolithic farmers of Central Europe had been "largely replaced" by Yamnaya people around 3,000 BC. This replacement altered not only the genetic landscape, but also the cultural landscape of Europe in many respects.[27]

 

It was discovered that the people of the contemporary Afanasievo culture of southern Siberia were "genetically indistinguishable" from the Yamnaya. People of the Corded Ware culture, the Bell Beaker culture, the Unetice culture and the Nordic Bronze Age were found to be genetically very similar to one another, but also with varying levels of affinity to Yamnaya, the highest found in Corded Ware individuals. The authors of the study suggested that the Sintashta culture of Central Asia emerged as a result of an eastward migration from Central Europe of Corded Ware people with both WSH and European Neolithic farmer ancestry.[27]

 

Jones et al. (2015), Upper Palaeolithic genomes reveal deep roots of modern Eurasians[edit]

 

Jones et al. (2015) found that the WSHs were descended from admixture between EHGs and a previously unknown clade which the authors identify and name Caucasus hunter-gatherers (CHGs). CHGs were found to have split off from WHGs ca. 43,000 BC, and to have split off from EEFs ca. 23,000 BC. It was estimated that Yamnaya "owe half of their ancestry to CHG-linked sources."[32]

 

Mathieson et al. (2015), Genome-wide patterns of selection in 230 ancient Eurasians[edit]

 

Mathieson et al. (2015), Genome-wide patterns of selection in 230 ancient

Eurasians, published in Nature in November 2015 found that the people of the Poltavka culture, Potapovka culture and Srubnaya culture were closely related and largely of WSH descent, although the Srubnaya carried more EEF ancestry (about 17%) than the rest. Like in Yamnaya, males of Poltavka mostly carried types of R1b, while Srubnaya males carried types of R1a.[24]

The study found that most modern Europeans could be modelled as a mixture between WHG, EEF and WSH.[d]

 

Lazaridis et al. (2016): Genomic insights into the origin of farming in the ancient Near East[edit]

 

A genetic study published in Nature in July 2016 found that WSHs were a mixture of EHGs and "a population related to people of the Iran Chalcolithic". EHGs were modeled as being of 75% Ancient North Eurasian (ANE) descent. A significant presence of WSH ancestry among populations of South Asia was detected. Here WSH ancestry peaked at 50% among the Kalash people, which is a level similar to modern populations of Northern Europe.[13]

 

Lazaridis et al. (2017), Genetic Origins of the Minoans and Mycenaeans[edit]

 

Lazaridis et al. (2017) examined the genetic origins of the Mycenaeans and the Minoans. Although they were found to be genetically similar to Minoans, the Mycenaeans were found to harbor about 15% WSH ancestry, which was not present in Minoans. It was found that Mycenaeans could be modelled as a mixture of WSH and Minoan ancestry. The study asserts that there are two key questions remaining to be addressed by future studies.

 

First, when did the common "eastern" ancestry of both Minoans and Mycenaeans arrive in the Aegean? Second, is the "northern" ancestry in Mycenaeans due to sporadic infiltration of Greece, or the result of a rapid migration as in Central Europe? Such a migration would support the idea that proto-Greek speakers formed the southern wing of a steppe intrusion of Indo-European speakers. Yet, the absence of "northern" ancestry in the Bronze Age samples from Pisidia, where Indo-European languages were attested in antiquity, casts doubt on this genetic-linguistic association, with further sampling of ancient Anatolian speakers needed.[33]

 

The Beaker phenomenon and the genomic transformation of northwest Europe[edit]

 

Olalde (2018) examined the entry of WSH ancestry into the British Isles. WSH ancestry was found to have been carried into the British Isles by the Bell Beaker culture in the second half of the 3rd millennium BC. The migrations of Bell Beakers were accompanied with "a replacement of ~90% of Britain's gene pool within a few hundred years".[e] The gene pool in the British Isles had previously been dominated by EEFs, with additional WHG admixture that varied regionally.[34]

 

Y-DNA in parts of the modern British Isles belongs almost entirely to R1b-M269, a WSH lineage, which is thought to have been brought to the isles with Bell Beakers.[29]

 

The Genomic History of Southeastern Europe[edit]

 

A genetic study published in Nature in February 2018 noted that the modern population of Europe can largely be modeled as a mixture between EHG, WHG, WSH and EEF.[f]

 

The study examined individuals from the Globular Amphora culture, who bordered the Yamnaya. Globular Amphora culture people were found to have no WSH ancestry, suggesting that cultural differences and genetic differences were connected.[28]

 

Notably, WSH ancestry was detected among two individuals buried in modern-day Bulgaria ca. 4,500 BC. This showed that WSH ancestry appeared outside of the steppe 2,000 years earlier than previously believed.[28]

 

The First Horse Herders and the Impact of Early Bronze Age Steppe Expansions into Asia[edit]

 

Damgaard et al. 2018 found that Yamnaya-related migrations had a lower direct and long-lasting impact in East and South Asia than in Europe. Crucially, the Botai culture of Late Neolithic Central Asia was found to have no WSH ancestry, suggesting that they belonged to an ANE-derived population deeply diverged from the WSHs.[30]

 

Bronze Age population dynamics and the rise of dairy pastoralism on the eastern Eurasian steppe[edit]

 

A genetic study published in the Proceedings of the National Academy of Sciences of the United States of America in November 2018 examined the presence of WSH ancestry in the Mongolian Plateau. A number of remains from Late Bronze Age individuals buried around Lake Baikal were studied. These individuals had only 7% WSH ancestry, suggesting that pastoralism was adopted on the Eastern Steppe through cultural transmission rather than genetic displacement.[3]

 

The study found that WSH ancestry found among Late Bronze Age populations of the south Siberia such as the Karasuk culture was transmitted through the Andronovo culture rather than the earlier Afanasievo culture, whose genetic legacy in the region by this time was virtually non-existent.[3]

 

Wang (2019), Ancient Human Genome-Wide Data From a 3000-Year Interval in the Caucasus Corresponds with Eco-Geographic Regions[edit]

 

A genetic study published in Nature Communications in February 2019 compared the genetic origins of the Yamnaya culture and the Maikop culture. It found that most of the EEF ancestry found among the Yamnaya culture was derived from the Globular Amphora culture and the Cucuteni–Trypillia culture of Eastern Europe.[5][35] Total EEF ancestry among the Yamnaya has been estimated at 10-18%. Given the high amount of EEF ancestry in the Maikop culture, this makes it impossible for the Maikop culture to have been a major source of CHG ancestry among the WSHs. Admixture from the CHGs into the WSHs must thus have happened at an earlier date.[35]

 

The genomic history of the Iberian Peninsula over the past 8000 years[edit]

 

Olalde (2019) analyzed the process by which WSH ancestry entered the Iberian Peninsula. The earliest evidence of WSH ancestry there was found from an individual living in Iberia in 2,200 BC in close proximity with native populations. By 2,000 BC, the native Y-DNA of Iberia (H, G2 and I2) had been almost entirely replaced with a single WSH lineage, R-M269. mtDNA in Iberia at this time was however still mostly of native origin, affirming that the entry of WSH ancestry in Iberia was primarily male-driven.[g]

 

Narasimhan et al. (2019), The Genomic Formation of South and Central Asia[edit]

 

 

 

 

Yamnaya-related migrations according to Narasimhan et al. (2019).

 

See also: Pre-agricultural migrations into South Asia and Indo-Aryan migrations into South Asia

 

Narasimhan et al. (2019), The Genomic Formation of South and Central Asia, published in Science in September 2019, found a large amount of WSH ancestry among Indo-European-speaking populations throughout Eurasia. This lent support to the theory that the Yamnaya people were Indo-European-speaking.[4]

 

The study found people of the Corded Ware, Srubnaya, Sintashta and Andronovo cultures to be a closely related group with around two-thirds WSH ancestry, and around one-third European Middle Neolithic admixture. These results further underpinned the notion that the Sintashta culture emerged as an eastward migration of Corded Ware peoples with mostly WSH ancestry back into the steppe. Among early WSHs, R1b is the most common Y-DNA lineage, while R1a (particularly R1a1a1b2) is common among later groups of Central Asia, such as Andronovo and Srubnaya.[4]

 

West Siberian Hunter-Gatherers (WSGs), a distinct archaeogenetic lineage, was discovered in the study. These were found to be of about 30% EHG ancestry, 50% ANE ancestry, and 20% East Asian ancestry. It was noticed that WSHs during their expansion towards the east gained a slight (ca. 8%) admixture from WSGs.[4]

 

It was found that there was a significant infusion of WSH ancestry into Central Asia and South Asia during the Bronze Age. WSH ancestry was found to have been almost completely absent from earlier samples in southern Central Asia in the 3rd millennium BC.[h]

 

During the expansion of WSHs from Central Asia towards South Asia in the Bronze Age, an increase in South Asian agriculturalist ancestry among WSHs was noticed. Among South Asian populations, WSH ancestry is particularly high among Brahmins and Bhumihars. WSH ancestry was thus expected to have spread into India with the Vedic culture.[4]

 

Antonio et al.(2019), Ancient Rome: A genetic crossroads of Europe and the Mediterranean[edit]

 

Antonio et al. (2019), Ancient Rome: A genetic crossroads of Europe and

the Mediterranean, published in Science in November 2019 examined the remains of six Latin males buried near Rome between 900 BC and 200 BC. They carried the paternal haplogroups R-M269, T-L208, R-311, R-PF7589 and R-P312 (two samples), and the maternal haplogroups H1aj1a, T2c1f, H2a, U4a1a, H11a and H10. A female from the preceding Proto-Villanovan culture carried the maternal haplogroups U5a2b.[37] These examined individuals were distinguished from preceding populations of Italy by the presence of ca. 30-40% steppe ancestry.[38] Genetic differences between the examined Latins and the Etruscans were found to be insignificant.[39]

 

Fernandes et al. (2019), The Arrival of Steppe and Iranian Related Ancestry in the Islands of the Western Mediterranean[edit]

 

Fernandes et al. (2019), The Arrival of Steppe and Iranian Related Ancestry in the Islands of the Western Mediterranean, found that a skeleton excavated from the Balearic islands (dating to ~2400 BC) had substantial WSH ancestry; however, later Balearic individuals had less Steppe heritage reflecting geographic heterogeneity or immigration from groups with more European first farmer-related ancestry. In Sicily, WSH ancestry arrived by ~2200 BC and likely came at least in part from Spain. 4 of the 5 Early Bronze Age Sicilian males had Steppe-associated Y-haplogroup R1b1a1a2a1a2 (R-P312). Two of these were Y-haplogroup R1b1a1a2a1a2a1 (Z195) which today is largely restricted to Iberia and has been hypothesized to have originated there 2500-2000 BC. In Sardinia, no convincing evidence of WSH ancestry in the Bronze Age has been found, but the authors detect it by ~200-700 CE.[40]

 

Analysis[edit]

 

The American archaeologist David W. Anthony (2019) summarized the recent genetic data on WSHs. Anthony notes that WSHs display genetic continuity between the paternal lineages of the Dnieper-Donets culture and the Yamnaya culture, as the males of both cultures have been found to have been mostly carriers of R1b, and to a lesser extent I2.[28]

 

While the mtDNA of the Dnieper-Donets people is exclusively types of U, which is associated with EHGs and WHGs, the mtDNA of the Yamnaya also includes types frequent among CHGs and EEFs. Anthony notes that WSH had earlier been found among the Sredny Stog culture and the Khvalynsk culture, who preceded the Yamnaya culture on the Pontic–Caspian steppe. The Sredny Stog were mostly WSH with slight EEF admixture, while the Khvalynsk living further east were purely WSH. Anthony also notes that unlike their Khvalynsk predecessors, the Y-DNA of the Yamnaya is exclusively EHG and WHG. This implies that the leading clans of the Yamnaya were of EHG and WHG origin.[42]

 

Because the slight EEF ancestry of the WSHs has been found to be derived from Central Europe, and because there is no CHG Y-DNA detected among the Yamnaya, Anthony notes that it is impossible for the Maikop culture to have contributed much to the culture or CHG ancestry of the WSHs. Anthony suggests that admixture between EHGs and CHGs first occurred on the eastern Pontic-Caspian steppe around 5,000 BC, while admixture with EEFs happened in the southern parts of the Pontic-Caspian steppe sometime later.[7]

 

As Yamnaya Y-DNA is exclusively of the EHG and WHG type, Anthony notes that the admixture must have occurred between EHG and WHG males, and CHG and EEF females. Anthony cites this as additional evidence that the Indo-European languages were initially spoken among EHGs living in Eastern Europe. On this basis, Anthony concludes that the Indo-European languages which the WSHs brought with them were initially the result of "a dominant language spoken by EHGs that absorbed Caucasus-like elements in phonology, morphology, and lexicon" (spoken by CHGs).[7]

 

During the Chalcolithic and early Bronze Age, the Early European Farmer (EEF) cultures of Europe were overwhelmed by successive migrations of WSHs. These migrations led to EEF paternal DNA lineages in Europe being almost entirely replaced with EHG/WSH paternal DNA (mainly R1b and R1a). EEF mtDNA however remained frequent, suggesting admixture between WSH males and EEF females.[43][44][45]

 

Phenotypes[edit]

 

Western Steppe Herders are believed to have been light-skinned. Early Bronze Age Steppe populations such as the Yamnaya are believed to have had mostly brown eyes and dark hair,[27][46] while the people of the Corded Ware culture had a higher proportion of blue eyes.[47][48]

 

The rs12821256 allele of the KITLG gene that controls melanocyte development and melanin synthesis,[49] which is associated with blond hair and first found in an Ancient North Eurasian individual from Siberia dated to around 15,000 BC, is later found in three Eastern Hunter-Gatherers from Samara, Motala and Ukraine, and several later individuals with WSH ancestry.[28] Geneticist David Reich concludes that the massive migration of Western Steppe Herders probably brought this mutation to Europe, explaining why there are hundreds of millions of copies of this SNP in modern Europeans.[50] In 2020, a study suggested that ancestry from Western Steppe Pastoralists was responsible for lightening the skin and hair color of modern Europeans, having a dominant effect on the phenotype of Northern Europeans, in particular.[1]

 

A study in 2015 found that Yamnaya had the highest ever calculated genetic selection for height of any of the ancient populations tested.[24][47] A 2024 study argues that the different amounts of Yamnaya/Steppe-like ancestry in Northern and Southern Europeans is responsible for the difference in height.[51]

 

Lactase persistence[edit]

 

More than 25% of 5 ancient DNA samples from Yamnaya sites have an allele that is associated with lactase persistence, conferring lactose tolerance into adulthood.[52] Steppe-derived populations such as the Yamnaya are thought to have brought this trait to Europe from the Eurasian steppe, and it is hypothesized that it may have given them a biological advantage over the European populations who lacked it.[53][54][55]

 

Eurasian steppe populations display higher frequencies of the lactose tolerance allele than European farmers and hunter gatherers who lacked steppe admixture.[56]