Archaeogenetics is the study of ancient DNA using various molecular genetic methods and DNA resources. This form of genetic analysis can be applied to human, animal, and plant specimens. Ancient DNA can be extracted from various fossilized specimens including bones, eggshells, and artificially preserved tissues in human and animal specimens. In plants, ancient DNA can be extracted from seeds and tissue. Archaeogenetics provides us with genetic evidence of ancient population group migrations, domestication events, and plant and animal evolution. The ancient DNA cross referenced with the DNA of relative modern genetic populations allows researchers to run comparison studies that provide a more complete analysis when ancient DNA is compromised.
111-528: In archaeogenetics , the term Ancient Northeast Asian ( ANA ), also known as Amur ancestry , is the name given to an ancestral component that represents the lineage of the hunter-gatherer people of the 7th-4th millennia before present, in far eastern Siberia , Mongolia and the Baikal regions. They are inferred to have diverged from Ancient East Asians about 24kya ago, and are represented by several ancient human specimens found in archaeological excavations east of
222-563: A Neolithic Eastern Mongolian population (East_Mongolia_preBA) having primarily Amur_N-like ancestry and local Baikal hunter-gatherers (Baikal_EBA). Several successor groups of the Neolithic and Early Bronze Age Baikal hunter-gatherers with varying degrees of Western Steppe Herders / Sintashta-like admixture started to appear in the Altai region during the Late Bronze Age. These groups formed from
333-538: A Yamnaya-like population. 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. 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
444-431: A basic laboratory setup and chemicals. It is also independent of sample size, as the process can be scaled to accommodate larger or smaller quantities. Another benefit is that the process can be executed at room temperature. However, this method does contain some drawbacks. Mainly, silica-based DNA extraction can only be applied to bone and teeth samples; they cannot be used on soft tissue . While they work well with
555-545: A closely related extant species can be used to estimate the divergence time of those two species from their last common ancestor . The phylogeny of some extinct species, such as Australian marsupial wolves and American ground sloths , has been constructed by this method. Mitochondrial DNA in animals and chloroplast DNA in plants are usually used for this purpose because they have hundreds of copies per cell and thus are more easily accessible in ancient fossils. Another method to investigate relationship between two species
666-477: A date of over 300 kya. Examination of mitochondrial DNA (mtDNA), Y-chromosome DNA, and X-chromosome DNA indicate that the earliest population to leave Africa consisted of approximately 1500 males and females. It has been suggested by various studies that populations were geographically “structured” to some degree prior to the expansion out of Africa; this is suggested by the antiquity of shared mtDNA lineages. One study of 121 populations from various places throughout
777-595: A frequency of over 25% of an allele that is associated with lactase persistence , conferring lactose tolerance into adulthood . 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. Eurasian steppe populations display higher frequencies of
888-479: 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
999-543: A large extent to the formation of the hybrid Eurasian Scytho-Siberian cultures , such as the Arzhan and Pazyryk (Eastern Saka) as well as the Tasmola ( Central Saka ) cultures of Central Asia from around 1,000 BCE, contributing about half of their genetic profile (40-55%), highlighting the increase in genetic diversity during the late Bronze Age and the following Iron Age. The hybrid Saka cultures in turn played an important role in
1110-669: A lesser extent I2 . 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
1221-505: 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. 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
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#17328555847361332-659: A minor Ancient North Eurasians (ANE) component at c. 11% (5-20%). The ANE-like component is best explained via Ancient Paleo-Siberian-rich groups. They also display genetic affinities with the Yumin hunter-gatherers from Northeast China , as well as the Neolithic and Bronze Age groups in Yakutia (Yakutia_LNBA) and Krasnoyarsk (kra001) in the Altai-Sayan region . These populations are sometimes described as "Neo-Siberians" and can be differentiated from proper ANA/Amur populations represented by
1443-540: A mixture of WHG ( Western Hunter-Gatherer ), EEF and WSH. According to a 2024 study, WSH ancestry peaks in Ireland , Iceland , Norway and Sweden . In South Asia, it peaks among the Brahmin , Bhumihar , Ror , Jat , and Kalash . The modern day Yaghnobis , an Eastern Iranian people , 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
1554-598: 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. 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
1665-651: 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
1776-895: A sample in the Amur region (AR19K; c. 19 000 BP), suggesting that Ancient Northeast Asians diverged from other East Asian populations sometimes between 19kya to 26kya. The first individual to be identified with the specific ANA gene pool came from the Russian Far East, near the Pacific coast, at the Devil’s Gate Cave ("DevilsCave_N", c. 5700 BCE). More Neolithic individuals with the ANA/Amur-like gene pool have been identified in eastern Mongolia (SOU001, "EastMongolia_preBA" 4686–4495 cal. BCE), in central Mongolia (ERM003, "CentralMongolia_preBA" 3781–3639 cal. BCE). The closely related hunter-gatherers from
1887-559: A sample, even when it is highly fragmented and of low concentration. It involves attaching a generic sequence to every single strand that generic primers can bond to, and thus all of the DNA present is amplified. This is generally more costly and time intensive than PCR but due to the difficulties involved in ancient DNA amplification it is cheaper and more efficient. One method of massive parallel sequencing , developed by Margulies et al., employs bead-based emulsion PCR and pyrosequencing , and
1998-592: A similarity in 2.18 and 1.62 bases per 10,000 respectively, suggesting Vi-80 sample was from a male individual. Other similar studies include finding of a mutation associated with dwarfism in Arabidopsis in ancient Nubian cotton , and investigation on the bitter taste perception locus in Neanderthals. Modern humans are thought to have evolved in Africa at least 200 kya (thousand years ago), with some evidence suggesting
2109-440: A single migratory event between 60 and 70 kya. Genetic evidence shows that occupation of the Near East and Europe happened no earlier than 50 kya. Studying haplogroup U has shown separate dispersals from the Near East both into Europe and into North Africa. Much of the work done in archaeogenetics focuses on the Neolithic transition in Europe. Cavalli-Svorza's analysis of genetic-geographic patterns led him to conclude that there
2220-515: 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. Genetic evidence demonstrates
2331-402: A specimen is collected from an archaeological site, DNA can be extracted through a series of processes. One of the more common methods utilizes silica and takes advantage of polymerase chain reactions in order to collect ancient DNA from bone samples. There are several challenges that add to the difficulty when attempting to extract ancient DNA from fossils and prepare it for analysis. DNA
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#17328555847362442-644: 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. In general, the inhabitants of the Southern Arc had darker pigmentation on average than those of the north (Europe outside the Southern Arc and the Eurasian steppe). When examining composite pigmentation phenotypes, researchers observed that while average pigmentation did indeed differentiate between populations of
2553-493: A trading network for the production and consumption of readily available resources. Archaeogenetics has been used to study the domestication of animals. By analyzing genetic diversity in domesticated animal populations researchers can search for genetic markers in DNA to give valuable insight about possible traits of progenitor species. These traits are then used to help distinguish archaeological remains between wild and domesticated specimens. The genetic studies can also lead to
2664-492: A variety of different fossils, they may be less effective in fossils that are not fresh (e.g. treated fossils for museums ). Also, contamination poses a risk for all DNA replication in general, and this method may result in misleading results if applied to contaminated material. Polymerase chain reaction is a process that can amplify segments of DNA and is often used on extracted ancient DNA. It has three main steps: denaturation , annealing , and extension. Denaturation splits
2775-399: A “pioneer colonization” model of European occupation, with incorporation of foraging populations into arriving Neolithic populations. Furthermore, analysis of ancient DNA, not just extant DNA, is shedding light on some issues. For instance, comparison of neolithic and mesolithic DNA has indicated that the development of dairying preceded widespread lactose tolerance. South Asia has served as
2886-466: Is a recent admixture of some Negrito groups with their local populations. Archaeogenetics has been used to better understand the populating of the Americas from Asia. Native American mtDNA haplogroups have been estimated to be between 15 and 20 kya, although there is some variation in these estimates. Genetic data has been used to propose various theories regarding how the Americas were colonized. Although
2997-403: Is also difficult due to the lack of repeatability caused by the uniqueness of specimens. Silica-based DNA extraction is a method used as a purification step to extract DNA from archaeological bone artifacts and yield DNA that can be amplified using polymerase chain reaction (PCR) techniques. This process works by using silica as a means to bind DNA and separate it from other components of
3108-411: Is continuously being split up. While the organism is alive these splits are repaired; however, once an organism has died, the DNA will begin to deteriorate without repair. This results in samples having strands of DNA measuring around 100 base pairs in length. Contamination is another significant challenge at multiple steps throughout the process. Often other DNA, such as bacterial DNA, will be present in
3219-421: Is difficult because the bone fossilisation degrades and DNA is chemically modified, usually by bacteria and fungi in the soil. The best time to extract DNA from a fossil is when it is freshly out of the ground as it contains six times the DNA when compared to stored bones. The temperature of extraction site also affects the amount of obtainable DNA, evident by a decrease in success rate for DNA amplification if
3330-550: Is especially helpful when the morphology of the fossil is ambiguous. Apart from that, species identification can also be done by finding specific genetic markers in an aDNA sequence. For example, the American indigenous population is characterized by specific mitochondrial RFLPs and deletions defined by Wallace et al. aDNA comparison study can also reveal the evolutionary relationship between two species. The number of base differences between DNA of an ancient species and that of
3441-542: Is genetic evidence that Chad-speaking descendants of Nilo-Saharan speakers migrated from Sudan to Lake Chad about 8 kya. Genetic evidence has also indicated that non-African populations made significant contributions to the African gene pool. For example, the Saharan African Beja people have high levels of Middle-Eastern as well as East African Cushitic DNA. Analysis of mtDNA shows that modern humans occupied Eurasia in
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3552-610: 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. As Yamnaya Y-DNA is exclusively of the EHG and WHG type, Anthony notes that
3663-456: Is known as Steppe Middle to Late Bronze Age (Steppe MLBA) ancestry. 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. Admixture between populations with Near Eastern ancestry and the EHG on the Pontic-Caspian steppe had begun by
3774-577: Is native to India. Analysis of mtDNA and NRY (non-recombining region of Y chromosome) sequences have indicated that the first major dispersal out of Africa went through Saudi Arabia and the Indian coast 50–100 kya, and a second major dispersal occurred 15–50 kya north of the Himalayas. Much work has been done to discover the extent of north-to-south and south-to-north migrations within Eastern Asia. Comparing
3885-399: 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. 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
3996-527: Is often referred to as Steppe Early and Middle Bronze Age ( Steppe EMBA ) ancestry. 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. The expansion of WSHs resulted in the virtual disappearance of
4107-406: Is often referred to as Yamnaya ancestry , Yamnaya-related ancestry , Steppe ancestry or Steppe-related ancestry . 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
4218-465: Is that it requires overlapping primer pairs for ancient DNA due to the short sequences. There can also be “jumping PCR” which causes recombination during the PCR process which can make analyzing the DNA more difficult in inhomogeneous samples. DNA extracted from fossil remains is primarily sequenced using Massive parallel sequencing , which allows simultaneous amplification and sequencing of all DNA segments in
4329-724: Is through DNA hybridization . Single-stranded DNA segments of both species are allowed to form complementary pair bonding with each other. More closely related species have a more similar genetic makeup, and thus a stronger hybridization signal. Scholz et al. conducted southern blot hybridization on Neanderthal aDNA (extracted from fossil remain W-NW and Krapina). The results showed weak ancient human-Neanderthal hybridization and strong ancient human-modern human hybridization. The human-chimpanzee and neanderthal-chimpanzee hybridization are of similarly weak strength. This suggests that humans and neanderthals are not as closely related as two individuals of
4440-577: Is used over mitochondrial and chloroplast DNA because of its faster mutation rate as well as its intraspecific variation due to a higher consistency of polymorphism genetic markers . Findings in crop 'domestication genes' (traits that were specifically selected for or against) include Through the study of archaeogenetics in plant domestication, signs of the first global economy can also be uncovered. The geographical distribution of new crops highly selected in one region found in another where it would have not originally been introduced serve as evidence of
4551-636: The Altai Mountains , 1,500 km further to the west than previously understood. The people of the Ulaanzuukh (1450–1150 BCE) and Slab Grave (1100–300 BCE) cultures were closely associated with the Ancient Northeast Asians (Amur ancestry) and can be modeled as direct descendants of them. They largely replaced the previous Neolithic and Early Bronze Age Baikal hunter-gatherers, although geneflow between them has been proposed, particularly between
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4662-574: The Altai Mountains . They are a sub-group of the Ancient Northern East Asians (ANEA). The Prehistoric populations of Eastern Siberia are poorly understood, mainly due to the lack of archaeological specimens. So far, the oldest populations for which genomic data have been obtained are the Upper Paleolithic Ancient North Eurasians (c. 24,000 BP) from Central Siberia, and Upper-Paleolithic populations related to
4773-631: The KITLG gene that controls melanocyte development and melanin synthesis, 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. 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. In 2020,
4884-632: The Western Steppe Herders , they were primarily of local Northern East Asian origin, implying cultural transmission. Modern day Tuvans and Nganasans , followed by Nanais , Yukaghirs , Evens , Itelmens , Ulchis , Koryaks , Nivkhs , and Chukchis , are among the people sharing the highest genetic affinities with the Late Bronze Age herders of Khövsgöl, but are not identical with them. The Altai MLBA gene pool further West can be associated with Eastern Scythians ( Saka ), who can be modeled as deriving significant amounts of ancestry (c. 40-55%) from
4995-457: 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
5106-715: The "Basal-East Asian" Tianyuan man (c. 40,000 BP), specifically the Salkhit (c. 34,000 BP) and AR33K (c. 33,000 BP) samples from Mongolia and the Amur region, or Manchuria . There is then a large gap until the Neolithic period, where the specific ANA gene pool has been identified. Ancestry basal to the ANA gene pool, but significantly closer to them than to the Upper-Paleolithic Tianyuan-related gene pool or other East Asian lineages (such as Southern East Asians), has been found among
5217-430: The 1950s. During the 1940s, Boyd and Karl O. Renkonen independently discovered that lectins react differently to various blood types, after finding that the crude extracts of the lima bean and tufted vetch agglutinated the red blood cells from blood type A but not blood types B or O. This ultimately led to the disclosure of thousands of plants that contained these proteins. In order to examine racial differences and
5328-603: The ABO blood groups and hair color of people at the Macedonian front, leading to his discovery that the hair color and blood type had no correlation. In addition to that he observed that there was a decrease of blood group A from western Europe to India and the opposite for blood group B. He hypothesized that the east-to-west blood group ratio stemmed from two blood groups consisting of mainly A or B mutating from blood group O, and mixing through migration or intermingling. A majority of his work
5439-518: The Altai Mountains of Siberia between 17.2 and 10.1 kya, after the LGM. Analysis of both mtDNA and Y-chromosome DNA reveals evidence of “small, founding populations.” Studying haplogroups has led some scientists to conclude that a southern migration into the Americas from one small population was impossible, although separate analysis has found that such a model is feasible if such a migration happened along
5550-830: The Baikal region and adjacent regions of Siberia are associated with the Early Neolithic eastern Baikal Fofonovo culture ("Fofonovo_EN"), and the western Baikal Kitoi culture ("Baikal_EN", 5200–4200 BCE or Shamanka_EN), as well as in conjunction with Ancient Paleo-Siberians (APS), the Early Bronze Age Baikal populations associated with the Glazkovo culture ("Baikal_EBA", circa 2500 BCE or Shamanka_EBA) and Cisbaikal_LNBA. They cluster broadly with other Ancient Northeast Asian (ANA) populations, but are differentiated from them via drift associated with an earlier inland expansion route, and
5661-665: The Baikal/Shamanka EBA groups, with the remainder being derived from Sintashta -like admixture (c. 45-60%) associated with early Indo-Iranians . A genomic study published in 2021 found that the Tarim mummies (c. 2000 BCE) had high levels of Ancient North Eurasian ancestry (c. 72%), with a smaller admixture from an East Asian-like population (particularly the Baikal_EBA, at c. 28%), but no detectable Western Steppe Herder-related ancestry . The Baikal EBA populations, also contributed to
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#17328555847365772-589: 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. 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
5883-613: 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. Western Steppe Herders are believed to have been light-skinned . Early Bronze Age Steppe populations such as
5994-465: The DNA into two single strands at high temperatures. Annealing involves attaching primer strands of DNA to the single strands that allow Taq polymerase to attach to the DNA. Extension occurs when Taq polymerase is added to the sample and matches base pairs to turn the two single strands into two complete double strands. This process is repeated many times, and is usually repeated a higher number of times when used with ancient DNA . Some issues with PCR
6105-521: The Eastern Eurasian Ulaanzuukh / Slab Grave culture , while low status individuals tended to be more diverse and having higher Saka-like ancestry. A likely chanyu , a male ruler of the Empire identified by his prestigious tomb, was shown to have had similar ancestry as a high status female in the "western frontiers", deriving about 39.3% Slab Grave genetic ancestry, 51.9% Han ancestry, with
6216-489: 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. Lazaridis et al. (2022) conclude 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
6327-464: The Göktürks. However, the authors also observed that the population of the "Türkic Empire" as a whole, particularly Central Steppe and Medieval Türks, had a high but variable degree of West Eurasian admixture, suggesting genetic sub-structure within the empire: for example, the ancestry of early medieval Turks was derived from Ancient Northeast Asians for about 62,2% of their genome, while the remaining 37,8%
6438-688: The Karakaba remains (830CE) and may be associated with the westwards expansion of Xiongnu tribes. A Hun individual from an elite burial of the mid-4th century CE in Budapest, Hungary, was reconstructed as 60% Ancient Northeast Asian/Amur (ANA) and 40% Saka . The 7-8th century Avars in Europe, particularly as regards the Avar elite, were also confirmed to have essentially Ancient Northeast Asian ancestry (c. 90%), with some additions from other sources. The Turkic princess Ashina (551–582 CE), whose remains were sequenced,
6549-526: 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. 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
6660-522: The Neolithic Devils Cave specimen, but share a common recent origin via their Ancient Northern East Asian ancestor. Neo-Siberians are inferred to have expanded prior to the expansion of Neolithic Amur ancestry. The Devils_Cave_N sample was found to display genetic continuity with a c. 14kya old sample (AR14K) from the Amur region , suggesting that the specific ANA gene pool formed as early as 14,000 BP. Neolithic ANA remains have been found as far as
6771-741: The Neolithic and Early Bronze Age Baikal populations from the Eastern Steppe and subsequent admixture from Western Steppe Herder migrant groups. This includes the Khövsgöl LBA herders from northern Mongolia and the Altai MLBA hunter-gatherers from the Altai region . The Khövsgöl LBA herders are descended from Early Bronze Age Baikal hunter-gatherers (Baikal EBA or Shamanka EBA, c. 93-96%) with small amounts of admixture from Western Steppe Herders (Sintashta, c. 4-7%). Genetic analyses revealed that while dairy pastoralism seems to have been adopted by them from
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#17328555847366882-530: The Neolithic. Most mtDNA's were “already established” among existing Mesolithic and Paleolithic groups. Most “control-region lineages” of modern European mtDNA are traced to a founder event of reoccupying northern Europe towards the end of the Last Glacial Maximum (LGM). One study of extant European mtDNA's suggest this reoccupation occurred after the end of the LGM, although another suggests it occurred before. Analysis of haplogroups V, H, and U5 support
6993-654: 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. 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
7104-481: The Southern Arc and the north, light phenotypes were found in both areas at similar early dates, growing in parallel in the more recent millennia of history, making light pigmentation in West Eurasia the result of constant selection pressure across time. A study in 2015 found that Yamnaya had the highest ever calculated genetic selection for height of any of the ancient populations tested. A 2024 study argues that
7215-570: The Tungusic-speaking Ulchi people ) overall forms the main ancestry of the early and contemporary speakers of Turkic , Mongolic and Tungusic languages , which supports their spread from Northeast Asia westwards, discernable in the Lake Baikal region since at least 6kya. An earlier wave of Northern East Asian ancestry into Siberia is associated with "Neo- Siberians " (represented by Uralic-speaking Nganasans ), which may be associated with
7326-475: 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. The modern population of Europe can largely be modeled as
7437-402: The Y-chromosome lineages indicate that primarily males partook in these migrations. The discovery of two subbranches U2i and U2e of the U mtDNA lineage, which arose in Central Asia has “modulated” views of a large migration from Central Asia into India, as the two branches diverged 50 kya. Furthermore, U2e is found in large percentages in Europe but not India, and vice versa for U2i, implying U2i
7548-506: The Yamnaya are believed to have had mostly brown eyes and dark hair, while the people of the Corded Ware culture had a higher proportion of blue eyes. A study from 2022 suggested that the skin tone of WSH peoples had brown eyes, brown hair, and intermediate complexions. The authors noted that the use of an “intermediate” skin tone phenotype, are those commonly found in present-day Mediterranean populations, as opposed to “pale” ones in present-day Northern Europeans. The rs12821256 allele of
7659-488: 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). During
7770-414: The chemical composition of bone and soil, and hydrology . There are three perseveration diagenetic phases. The first phase is bacterial putrefaction , which is estimated to cause a 15-fold degradation of DNA. Phase 2 is when bone chemically degrades, mostly by depurination . The third diagenetic phase occurs after the fossil is excavated and stored, in which bone DNA degradation occurs most rapidly. Once
7881-416: 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
7992-455: The coasts. Finally, archaeogenetics has been used to study the occupation of Australia and New Guinea. The Indigenous people of Australia and New Guinea are phenotypically very similar, but mtDNA has shown that this is due to convergence from living in similar conditions. Non-coding regions of mt-DNA have shown “no similarities” between the aboriginal populations of Australia and New Guinea. Furthermore, no major NRY lineages are shared between
8103-601: The continent found 14 genetic and linguistic “clusters,” suggesting an ancient geographic structure to African populations. In general, genotypic and phenotypic analysis have shown “large and subdivided throughout much of their evolutionary history.” Genetic analysis has supported archaeological hypotheses of a large-scale migrations of Bantu speakers into Southern Africa approximately 5 kya. Microsatellite DNA, single nucleotide polymorphisms (SNPs), and insertion/deletion polymorphisms (INDELS) have shown that Nilo-Saharan speaking populations originate from Sudan. Furthermore, there
8214-415: The development of domestication of dogs. Genetic studies have shown that all dogs are descendants from the gray wolf, however, it is currently unknown when, where, and how many times dogs were domesticated. Some genetic studies have indicated multiple domestications while others have not. Archaeological findings help better understand this complicated past by providing solid evidence about the progression of
8325-496: The different amounts of Yamnaya/Steppe-like ancestry in Northern and Southern Europeans is responsible for the difference in height. In addition, "based on osteological evidence, the Yamnaya people were tall and had dolichocephalic crania (the average male was 175.5 cm in height), while the representatives of Catacomb culture were stockier and had more brachycephalic crania." In one study, five ancient DNA samples from Yamnaya sites had
8436-538: The distribution and migration patterns of various racial groups, Boyd systematically collected and classified blood samples from around the world, leading to his discovery that blood groups are not influenced by the environment, and are inherited. In his book Genetics and the Races of Man (1950), Boyd categorized the world population into 13 distinct races, based on their different blood type profiles and his idea that human races are populations with differing alleles . One of
8547-428: The domestication of dogs. As early humans domesticated dogs the archaeological remains of buried dogs became increasingly more abundant. Not only does this provide more opportunities for archaeologists to study the remains, it also provides clues about early human culture. [REDACTED] Evolutionary biology portal [REDACTED] History portal Western Steppe Herders In archaeogenetics ,
8658-602: 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. Expansions of Yamnaya-related populations to Eastern and Central Europe resulted in
8769-598: The earliest samples, with R1a-M417 becoming predominant over time. Around 3,000 BC, people of the Yamnaya culture or a closely related group, who had high levels of WSH ancestry with some additional Neolithic farmer admixture, 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
8880-486: The existing data on blood group gene frequencies, and largely contributing to the genetic map of the world through his investigation of blood groups in many populations. Mourant discovered the new blood group antigens of the Lewis , Henshaw , Kell , and Rhesus systems, and analyzed the association of blood groups and various other diseases. He also focused on the biological significance of polymorphisms . His work provided
8991-514: The expansion of Yukaghir and Uralic languages , and the partial displacement of Paleo-Siberians , starting around 11kya. Archaeogenetics Archaeogenetics receives its name from the Greek word arkhaios , meaning "ancient", and the term genetics , meaning "the study of heredity". The term archaeogenetics was conceived by archaeologist Colin Renfrew . In February 2021, scientists reported
9102-675: The fifth millennium BC, predating the Yamnaya culture by at least 1,000 years. 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. The individuals from Khvalynsk comprise
9213-587: 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
9324-479: The formation of the Xiongnu Empire (3rd century BCE-1st century CE), which combined specific Saka ancestries (particularly Chandman / Uyuk -related ones), with Neolithic Amur-derived Ulaanzuukh and Slab Grave ancestries, to which Sarmatian and Han ancestry was further added at a later stage. High status Xiongnu individuals tended to have less genetic diversity, and their ancestry was essentially derived from
9435-416: The fossil is found in warmer regions. A drastic change of a fossil's environment also affects DNA preservation. Since excavation causes an abrupt change in the fossil's environment, it may lead to physiochemical change in the DNA molecule. Moreover, DNA preservation is also affected by other factors such as the treatment of the unearthed fossil like (e.g. washing, brushing and sun drying), pH , irradiation ,
9546-433: The fossil process that inhibit PCR amplification. However, silica itself is also a strong PCR inhibitor , so careful measures must be taken to ensure that silica is removed from the DNA after extraction. The general process for extracting DNA using the silica-based method is outlined by the following: One of the main advantages of silica-based DNA extraction is that it is relatively quick and efficient, requiring only
9657-422: The foundation for archaeogenetics because it facilitated the separation of genetic evidence for biological relationships between people. This genetic evidence was previously used for that purpose. It also provided material that could be used to appraise the theories of population genetics . William Boyd was an American immunochemist and biochemist who became famous for his research on the genetics of race in
9768-403: The gene pool was replaced within a few hundred years. 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. Bronze Age individuals from the Sintashta culture in the southern Urals and
9879-517: The genetic diversity of northeastern groups with southeastern groups has allowed archaeologists to conclude many of the northeast Asian groups came from the southeast. The Pan-Asian SNP (single nucleotide polymorphism) study found “a strong and highly significant correlation between haplotype diversity and latitude,” which, when coupled with demographic analysis, supports the case for a primarily south-to-north occupation of East Asia. Archaeogenetics has also been used to study hunter-gatherer populations in
9990-490: The identification of ancestors for domesticated animals. The information gained from genetics studies on current populations helps guide the Archaeologist's search for documenting these ancestors. Archaeogenetics has been used to trace the domestication of pigs throughout the old world. These studies also reveal evidence about the details of early farmers. Methods of Archaeogenetics have also been used to further understand
10101-413: The later Yamnaya population, and harbour very variable proportions of CHG ancestry. 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
10212-443: The major early corridor for geographical dispersal of modern humans from out-of-Africa. Based on studies of mtDNA line M, some have suggested that the first occupants of India were Austro-Asiatic speakers who entered about 45–60 kya. The Indian gene pool has contributions from earliest settlers, as well as West Asian and Central Asian populations from migrations no earlier than 8 kya. The lack of variation in mtDNA lineages compared to
10323-672: The middle Volga and the North Caucasus foothills, makes a "plausible genetic ancestor for Yamnaya". 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. When the first Yamnaya whole genome sequences were published in 2015, Yamnaya individuals were reported to have no Anatolian Farmer ancestry, but following larger studies it
10434-545: The most abundant information sources regarding inheritable traits linked to race remains the study of blood groups. Fossil retrieval starts with selecting an excavation site . Potential excavation sites are usually identified with the mineralogy of the location and visual detection of bones in the area. However, there are more ways to discover excavation zones using technology such as field portable x-ray fluorescence and Dense Stereo Reconstruction. Tools used include knives , brushes , and pointed trowels which assist in
10545-456: The most widely held theory suggests “three waves” of migration after the LGM through the Bering Strait, genetic data have given rise to alternative hypotheses. For example, one hypothesis proposes a migration from Siberia to South America 20–15 kya and a second migration that occurred after glacial recession. Y-chromosome data has led some to hold that there was a single migration starting from
10656-679: The oldest DNA ever sequenced was successfully retrieved from a mammoth dating back over a million years. Ludwik Hirszfeld was a Polish microbiologist and serologist who was the President of the Blood Group Section of the Second International Congress of Blood Transfusion. He founded blood group inheritance with Erich von Dungern in 1910, and contributed to it greatly throughout his life. He studied ABO blood groups . In one of his studies in 1919, Hirszfeld documented
10767-428: The original sample. To avoid contamination it is necessary to take many precautions such as separate ventilation systems and workspaces for ancient DNA extraction work. The best samples to use are fresh fossils as uncareful washing can lead to mold growth. DNA coming from fossils also occasionally contains a compound that inhibits DNA replication. Coming to a consensus on which methods are best at mitigating challenges
10878-498: The preceding EHG population. 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. Archaeologist David Anthony speculates that the Khvalynsk/Progress-2 mating network, located between
10989-763: The region, such as the Ainu from Japan and Negrito groups in the Philippines. For example, the Pan-Asian SNP study found that Negrito populations in Malaysia and the Negrito populations in the Philippines were more closely related to non-Negrito local populations than to each other, suggesting Negrito and non-Negrito populations are linked by one entry event into East Asia; although other Negrito groups do share affinities, including with Indigenous Australians . A possible explanation of this
11100-608: The removal of fossils from the earth. To avoid contaminating the ancient DNA , specimens are handled with gloves and stored in -20 °C immediately after being unearthed. Ensuring that the fossil sample is analyzed in a lab that has not been used for other DNA analysis could prevent contamination as well. Bones are milled to a powder and treated with a solution before the polymerase chain reaction (PCR) process. Samples for DNA amplification may not necessarily be fossil bones. Preserved skin, salt-preserved or air-dried, can also be used in certain situations. DNA preservation
11211-554: The rest (8.8%) being Saka ( Chandman ) ancestry. A later different Eastern influx is evident in three outlier samples of the Saka Tasmola culture (Tasmola Birlik) and one of the Pazyryk culture (Pazyryk Berel), which displayed c. 70-83% additional Amur-derived ancestry, suggesting them to be recent migrants from further East. The same additional Eastern ancestry is found among the later groups of Huns (Hun Berel 300CE, Hun elite 350CE), and
11322-505: The same species are, but they are more related to each other than to chimpanzees. There have also been some attempts to decipher aDNA to provide valuable phenotypic information of ancient species. This is always done by mapping aDNA sequence onto the karyotype of a well-studied closely related species, which share a lot of similar phenotypic traits. For example, Green et al. compared the aDNA sequence from Neanderthal Vi-80 fossil with modern human X and Y chromosome sequence, and they found
11433-453: The source of "Steppe ancestry" among many Central Asian and Middle Eastern groups. A summary of several genetic studies published in Nature and Cell during the year 2015 is given by Heyd (2017) : '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;
11544-606: The splitting event between the two groups was over 50 kya, casting doubt on recent common ancestry between the two. Archaeogenetics has been used to understand the development of domestication of plants and animals. The combination of genetics and archeological findings have been used to trace the earliest signs of plant domestication around the world. However, since the nuclear, mitochondrial, and chloroplast genomes used to trace domestication's moment of origin have evolved at different rates, its use to trace genealogy have been somewhat problematic. Nuclear DNA in specific
11655-586: 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 , Repin , Sredny Stog , and Yamnaya cultures, and found in substantial levels in contemporary European, Central Asian, South Asian and West Asian populations. This ancestry
11766-478: The two populations. The high frequency of a single NRY lineage unique to Australia coupled with “low diversity of lineage-associated Y-chromosomal short tandem repeat (Y-STR) haplotypes” provide evidence for a “recent founder or bottleneck” event in Australia. But there is relatively large variation in mtDNA, which would imply that the bottleneck effect impacted males primarily. Together, NRY and mtDNA studies show that
11877-401: Was a massive influx of Near Eastern populations into Europe at the start of the Neolithic. This view led him “to strongly emphasize the expanding early farmers at the expense of the indigenous Mesolithic foraging populations.” mtDNA analysis in the 1990s, however, contradicted this view. M.B. Richards estimated that 10–22% of extant European mtDNA's had come from Near Eastern populations during
11988-528: Was derived from West Eurasians ( BMAC and Afanasievo ), with the admixture occurring around the year 500 CE. The ruling clan of the Turkic peoples, the Ashina tribe, was found to display close genetic affinities with the earlier Slab Grave and Ulaanzuukh culture remains. Genetically, ANA/Amur ancestry peaks among modern Tungusic , Mongolic and Nivkh -speaking populations of Northeast Asia. ANA ancestry (represented by
12099-564: Was found to be genetically closely associated with Ancient Northeast Asians (with 97.7% Northeast Asian ancestry, 2.3% West Eurasian ancestry dating back to around 3000 years ago, and no Chinese ("Yellow River") admixture), which according to Yang et al supports a Northeast Asian origin of the Ashina tribe and the Göktürk Khanate . These findings refute "the western Eurasian origin and multiple origin hypotheses" in favor of an East Asian origin for
12210-510: Was found to be powerful in analyses of aDNA because it avoids potential loss of sample, substrate competition for templates, and error propagation in replication. The most common way to analyze an aDNA sequence is to compare it with a known sequence from other sources, and this could be done in different ways for different purposes. The identity of the fossil remain can be uncovered by comparing its DNA sequence with those of known species using software such as BLASTN. This archaeogenetic approach
12321-473: Was researching the links of blood types to sex, disease, climate, age, social class, and race. His work led him to discover that peptic ulcer was more dominant in blood group O, and that AB blood type mothers had a high male-to-female birth ratio. Arthur Mourant was a British hematologist and chemist . He received many awards, most notably Fellowship of the Royal Society . His work included organizing
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