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.
112-477: In archaeogenetics , western hunter-gatherer ( WHG , also known as west European hunter-gatherer , western European hunter-gatherer or Oberkassel cluster ) ( c. 15,000~5,000 BP ) is 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
224-591: A West Eurasian ancestry closely related to the 35,000 year old BK1653 individual from Bacho Kiro Cave in Bulgaria, with this BK1653-related ancestry also significantly (~59%) ancestral to the Věstonice cluster characteristic of eastern Gravettian producing Cro-Magnon groups (which have additional ancestry precluding them from being the direct ancestors of the Villabruna cluster), which may reflect shared ancestry in
336-431: 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
448-545: 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
560-477: 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
672-475: A foreshaft of a spear made from the horn of a woolly rhinoceros in the Yana Valley. The discovery was made following thawing and erosion, which exposed numerous artifacts and animal bones near the site. Following this discovery, guided by Dashtzeren, an Upper Paleolithic site now known as Yana RHS was found in 2001 by archaeologist Vladimir Pitulko and colleagues. Excavations began in 2002. The Yana RHS
784-643: 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 ). A large number of individuals from
896-500: A location now known as 'Yana Mass Accumulation of Mammoth' (YMAM), containing around 1,000 mammoth bones representing at least 26 individuals, and grouped according to type. At the YMAM locality, over 95 per cent of the faunal remains are mammoth, compared to around 50 per cent at Yana-B and only 3.3 per cent at Northern Point. Recent studies suggest that there is convincing evidence of sporadic mammoth hunting, perhaps every few years, which
1008-440: A minor amount of WHG ancestry due to admixture with WHG groups during their European expansion. Among modern-day populations, WHG ancestry is most common among populations of the eastern Baltic region. Western hunter-gatherers (WHG) are recognised as a distinct ancestral component contributing to the ancestry of most modern Europeans . Most Europeans can be modeled as a mixture of WHG, EEF, and Western Steppe Herders (WSHs) from
1120-542: A particular size and shape, facilitating the manufacture of better hunting weapons. The Yana stone industry is flake-based , using a simple knapping technology. Blades are rare and microblades are absent. Large tools are mostly unifacial or incomplete bifaces. Among thousands of stone artifacts, no stone hunting tools have been discovered at the Yana site. Instead, hunting tools seem to have been made from bone and ivory. A variety of other stone tools have been found at
1232-540: A relatively high level of technological development. With an estimated age of around 32,000 calibrated years before present (cal BP), the site provides the earliest archaeological evidence for human settlement in this region, or anywhere north of the Arctic Circle, where people survived extreme conditions and hunted a wide range of fauna before the onset of the Last Glacial Maximum . The Yana site
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#17327726195231344-562: 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
1456-608: 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
1568-550: 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
1680-402: 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
1792-493: 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
1904-492: 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
2016-399: 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
2128-471: 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
2240-403: 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
2352-545: Is an Upper Palaeolithic archaeological site located near the lower Yana River in northeastern Siberia , Russia , north of the Arctic Circle in the far west of Beringia . It was discovered in 2001, after thawing and erosion exposed animal bones and artifacts. The site features a well-preserved cultural layer due to the cold conditions, and includes hundreds of animal bones and ivory pieces as well as numerous artifacts, which are indicative of sustained settlement and
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#17327726195232464-411: 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
2576-421: 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
2688-555: 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
2800-556: 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
2912-479: 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. The WHG were also found to have contributed ancestry to populations on
3024-583: Is located on an alluvial terrace near the left bank of the Yana river, north of the Arctic Circle, around 100 km south of the current river mouth. It is situated on the far west of the coastal lowland between the Yana River in the west and the Kolyma River in the east. The site consists of a complex of several roughly contemporaneous locations, separated by tens or hundreds of metres, over an area of more than 3500 square metres. The cultural layer
3136-592: 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
3248-672: Is perhaps the earliest unambiguous evidence of mammoth hunting by humans. A 2019 genetic study found that the remains of two young male humans discovered at the site, dating to c. 31.6 ka BP , represent a distinct archaeogenetic lineage , named Ancient North Siberians (ANS). The Yana RHS site is preceded in Siberia by a few Initial Upper Paleolithic archaeological sites such as Ust-Ischim (with modern human remains, 45,000 years BP), or Kara-Bom (dating to 46,620 +/-1,750 cal years BP), Kara-Tenesh, Kandabaevo, and Podzvonskaya. In 1993, Russian geologist Mikhail Dashtzeren found
3360-400: Is perhaps the earliest unambiguous evidence of mammoth hunting by humans. It is likely that obtaining mammoth meat was not the main purpose of mammoth hunting at this site. Instead, mammoths were hunted mainly for ivory and bone to use as building materials, tools, and fuel. It has been suggested that people of Yana RHS selectively hunted adolescent and young adult female mammoths with tusks of
3472-465: Is possible that other as yet unexamined loci may have also influenced phenotype." 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". 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
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3584-466: Is retained to a significant extent at three of these locations (Northern Point, Yana B, and Tums1). Three other locations (Upstream Point, ASN, and Southern Point) only yield surface finds. At an additional location, now known as 'Yana Mass Accumulation of Mammoth' (YMAM), a large number of mammoth remains, comprising over 1,000 mammoth bones, was discovered in 2008 by ivory hunters. The site has been radiocarbon dated to approximately 32,000 cal BP, before
3696-525: 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. 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 or intermediate-to-dark and intermediate skin, respectively. Spanish biologist Carles Lalueza-Fox said
3808-468: 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
3920-728: 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
4032-577: 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
4144-616: 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. A 2024 research into the genomic ancestry and social dynamics of the last hunter-gatherers of Atlantic France has stated that "phenotypically, we find some diversity during the Late Mesolithic in France", at which two of the WHG's sequenced in
4256-622: 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. A seminal 2014 study first identified the contribution of three main components to modern European lineages:
4368-578: The Clovis culture , and are the earliest examples of bi-beveled osseous rods, and also the only example found outside the Americas. There are also numerous ivory utensils, bone and ivory points, bone needles, a punch or an awl made from wolf bone, decorations and personal ornaments, and hunting weapons. Non-local materials such as amber were used to manufacture ornaments such as pendants, suggesting high mobility or extensive trade networks. Over 1,500 beads, some painted with red ochre, have been discovered at
4480-522: The Epigravettian archaeological culture, which largely replaced populations associated with the Magdalenian culture about 14,000 years ago (the ancestry of Magdalenian-associated Goyet-Q2 cluster primarily descended from the earlier Solutrean , and western Gravettian-producing groups in France and Spain). A 2023 study found that relative to earlier Western European Cro-Magnon populations like
4592-631: The Funnelbeaker culture . According to David Reich , DNA analysis has shown that Western Hunter Gatherers were typically dark skinned, dark haired, and blue eyed. The dark skin was due to their 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. 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. This
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4704-613: 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 ). People of the Balkan Neolithic were found to harbor 98% Anatolian ancestry and 2% WHG ancestry. By
4816-1032: The Last Glacial Maximum and more than twice the age of any previously known human settlement of the Arctic. By the time of the Last Glacial Maximum, around 21,000 cal BP, the archaeological culture represented by the Yana site had disappeared. From the exposed cultural layer, hundreds of animal bones have been discovered at the site, from a wide variety of species, including many that are now extinct. The species include woolly rhinoceros ( Coelodonta antiquitatis ), woolly mammoth ( Mammuthus primigenius ), Pleistocene hare ( Lepus tanaiticus ), steppe bison ( Bison priscus ), horse ( Equus ferus caballus ), musk ox ( Ovibos moschatus ), wolf ( Canis lupus ), polar fox ( Vulpes lagopus ), brown bear ( Ursus arctos ), Pleistocene lion ( Panthera spelaea ), wolverine ( Gulo gulo ), rock ptarmigan ( Lagopus mutus hyperboreus ), and reindeer ( Rangifer tarandus ),
4928-752: The Last Glacial Maximum , correlating with the expansion of WHG (Villabruna or Oberkassel) ancestry. There is also evidence for bi-directional geneflow between WHG and Middle Eastern populations as early as 15,000 years ago. WHG associated remains belonged primarily to the human Y-chromosome haplogroups I-M170 with a lower frequency of C-F3393 (specifically the clade C-V20/C1a2 ), which has been found commonly among earlier Paleolithic European remains such as Kostenki-14 and Sungir . 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. The Villabruna cluster also carried
5040-493: The Maglemose , Kongemose and Ertebølle cultures. They displayed "genetic homogeneity from around 10,500 to 5,900 calibrated years before present", until "Neolithic farmers with Anatolian-derived ancestry arrived". The transition to the Neolithic period was "very abrupt and resulted in a population turnover with limited genetic contribution from local hunter-gatherers. The succeeding Neolithic population has been associated with
5152-596: 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. The DNA of eleven WHGs from
5264-674: The Pontic–Caspian steppe . WHGs also contributed ancestry to other ancient groups such as Early European Farmers (EEF), who were, however, mostly of Anatolian descent. 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. WHGs represent a major population shift within Europe at
5376-650: The Scandinavian hunter-gatherers (SHGs) were found to be a mix of EHGs and WHGs. In the Iberian Peninsula early Holocene hunter-gathers consisted of populations with a mixture of WHG and Magdalenian Cro-Magnon (GoyetQ2) ancestry. 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
5488-634: 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. People of the Pit–Comb Ware culture (CCC) of the eastern Baltic were closely related to EHG. Unlike most WHGs,
5600-809: 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. The study also included an analysis of
5712-606: The Y-haplogroup R1b (R1b-L754), derived from the Ancient North Eurasian haplogroup R *, indicating "an early link between Europe and the western edge of the Steppe Belt of Eurasia." Their mitochondrial chromosomes belonged primarily to haplogroup U5 . A 2023 study proposed that the Villabruna cluster emerged from the mixing in roughly equal proportions of a divergent West Eurasian ancestry with
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#17327726195235824-589: 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 ). Forty individuals from three sites of
5936-430: 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
6048-724: The 5th to 4th millennia BC (rather than a single admixture event on initial contact). 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%. 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
6160-612: 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
6272-528: 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
6384-586: The Balkan region. The earliest known individuals of predominantly WHG/Villabruna ancestry in Europe are known from Italy, dating to around 17,000 years ago, though an individual from El Mirón cave in northern Spain with 43% Villabruna ancestry is known from 19,000 years ago. While not confirmed, the Villabruna cluster was probably present earlier than in the Balkans region than elsewhere in Southern Europe. Early WHG/Villabruna populations are associated with
6496-753: 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. 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
6608-465: 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
6720-610: The Gravettians, that Magdalenian-associated Goyet-Q2 cluster carried significant (~30%) Villabruna ancestry even prior to the major expansion of WHG-related groups north of the Alps. This study also found that relative to earlier members of the Villabruna cluster from Italy, WHG-related groups which appeared north of the Alps beginning around 14,000 years ago carried around 25% ancestry from the Goyet-Q2 cluster (or alternatively 10% from
6832-535: The La Braña-1 individual had dark skin, "although we cannot know the exact shade." 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. Admixture between hunter-gatherer and agriculturist populations
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#17327726195236944-607: The Middle East and the Caucasus than earlier European hunter-gatherers. Their precise relationships to other groups are somewhat obscure, with the origin of the Villabruna cluster likely somewhere in the vicinity of the Balkans . The Villabruna cluster (which is associated with the Epigravettian and other related archaeological cultures) had expanded into the Italian and Iberian Peninsulas by approximately 19,000 years ago, with
7056-468: 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
7168-468: The WHG cluster subsequently expanding across Western Europe at the end of the Pleistocene around 14-12,000 years ago, largely replacing the Magdalenian peoples who previously dominated the region. These Magdalenian peoples largely descended from earlier Western European Cro-Magnon groups that had arrived in the region over 30,000 years ago, prior to the Last Glacial Maximum. WHGs constituted one of
7280-639: The WHG/Villabruna cluster to other Paleolithic human groups in Europe and West Asia are obscure and subject to conflicting interpretations. A 2022 study proposed that the WHG/Villabruna population genetically diverged from hunter-gatherers in the Middle East and the Caucasus around 26,000 years ago, during the Last Glacial Maximum . WHG genomes display higher affinity for ancient and modern Middle Eastern populations when compared against earlier Paleolithic Europeans such as Gravettians . The affinity for ancient Middle Eastern populations in Europe increased after
7392-456: 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. 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
7504-722: 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
7616-402: 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
7728-480: The borders of Europe such as early Anatolian farmers and Ancient Northwestern Africans, as well as other European groups such as eastern hunter-gatherers . The relationship of WHGs to the EHGs remains inconclusive. 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
7840-414: 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
7952-455: 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
8064-601: 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
8176-415: 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
8288-542: 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
8400-513: The divergence of West-Eurasian and East-Eurasian lineages. 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 Initial Upper Paleolithic European specimens, such as those found in the Zlaty Kun , Peștera cu Oase and Bacho Kiro caves, being unrelated to Western hunter-gatherers but closer to Ancient East Eurasians or basal to both. The relationships of
8512-449: 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 Yana Rhinoceros Horn Site The Yana Rhinoceros Horn Site (Yana RHS)
8624-639: The end of the Ice Age, probably a population expansion into continental Europe, from Southeastern European or West Asian refugia . 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
8736-490: 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
8848-458: The finds indicate a sustained and long-term human occupation of the site, and demonstrate a high level of cultural and technological development. Archaeologists have noted similarities between the Yana RHS and the Clovis culture , especially their respective stone industries and distinctive spear foreshafts. Human teeth, dated to around 31,630 calibrated years before present, were found at
8960-416: 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 ,
9072-433: 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
9184-422: 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
9296-517: 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
9408-497: 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
9520-573: The largest contribution of WHG in Northern Europe and among Basque people. 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
9632-526: The last of which was probably the primary source of game. There is direct evidence for the hunting of steppe bison, reindeer, and brown bear at the site. The faunal remains suggest that the human settlers at this site had a diverse diet. Some animals were probably hunted by humans for their fur. For instance, hare skeletons are found fully articulated, and were likely snared for their pelts, which are light and warm, rather than for meat. Until 2008, an unexpectedly low number of mammoth bones were found at
9744-525: The main genetic groups in the postglacial period of early Holocene Europe, along with eastern hunter-gatherers (EHG) in Eastern Europe. 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 . EHGs primarily consisted of a mixture of WHG-related and Ancient North Eurasian (ANE) ancestry. Scandinavia
9856-443: 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
9968-419: The maternal haplogroups U5b1 and one U5b3 . 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. 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
10080-545: 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
10192-463: 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
10304-705: 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
10416-428: 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
10528-790: 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
10640-608: 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
10752-675: 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. 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. A study on Mesolithic hunter-gatherers from Denmark found that they were related to contemporary Western hunter-gatherers, and are associated with
10864-505: 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
10976-570: The site, at the Northern Point locality. DNA extracted from two of these teeth, which were found to be from two unrelated males, were found to represent a distinct archaeogenetic lineage which can be modelled as a mixture of early West Eurasian with significant contribution (c. 22% to 50%) from early East Asians (represented by Tianyuan man ), an ancestral lineage that the authors have named 'Ancient North Siberian' (ANS), thought to have diversified around 38,000 years ago. Both individuals from
11088-405: The site, compared to the enormous number of bones from other mammals, which was interpreted to mean that mammoths played a limited role in the subsistence strategy of humans at the site, and had not been hunted but instead were scavenged for ivory and bone, which was used for tools and building materials. This interpretation was revised when ivory hunters discovered an additional locality nearby at
11200-483: The site, however, including chopping tools, scrapers, chisel-like tools, and a hammer stone. Organic materials are well-preserved at the site due to the permafrost . Around 2,500 bone and ivory artefacts have been discovered at the site between 2002 and 2016. These include a rhinoceros horn foreshaft and two mammoth ivory foreshafts, which may have been straightened with a shaft-wrench, combined with heating or steaming. The foreshafts are said to be similar to those of
11312-654: The site. These include rounded mammoth ivory beads and tubular beads made from Pleistocene hare bone. Pendants were found made from reindeer teeth and herbivore incisors, and occasionally carnivore canines, or more rarely from minerals such as amber, as well as one specimen made from anthraxolite shaped like a horse or mammoth head. Ivory hair band ornaments are also found. Three-dimensional objects are less common, but include 19 antler animal figurines, probably intended to represent mammoths, three ornamented ivory vessels, and two engraved mammoth tusks, possibly engraved with drawings of hunters or dancers. The extent and density of
11424-606: 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
11536-559: The study "likely had pale to intermediate skin pigmentation", but "most individuals carry the dark skin and blue eyes characteristic of WHGs" of the studied samples. 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
11648-501: 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
11760-483: 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
11872-613: The west to the Carpathians in the east, following the retreat of the ice sheet of the Last Glacial Maximum . It is closely associated and sometimes considered synonymous with the concept of the Villabruna cluster , named after Ripari Villabruna cave in Italy, known from the terminal Pleistocene of Europe, which is largely ancestral to later WHG populations. WHGs share a closer genetic relationship to ancient and modern peoples in
11984-483: The western Gravettian associated Fournol cluster). This paper proposed that WHG should be named the Oberkassel cluster, after one of the oldest WHG individuals found north of the Alps. 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
12096-401: 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
12208-654: Was apparently occasional, but not extensive. 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
12320-510: 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
12432-442: Was inhabited by Scandinavian hunter-gatherers (SHGs), which were a mixture between WHG and EHG. In the Iberian Peninsula, early Holocene hunter-gathers consisted of a mixture of WHG and Magdalenian Cro-Magnon (GoyetQ2) ancestry. Once the main population throughout Europe, the WHGs were largely replaced by successive expansions of Early European Farmers (EEFs) of Anatolian origin during the early Neolithic , who generally carried
12544-480: 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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