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Thread: Ancient DNA: List of All Studies analyzing DNA of Ancient Tribes and Ethnicities(pre-2011)

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    Lightbulb Ancient DNA: List of All Studies analyzing DNA of Ancient Tribes and Ethnicities(pre-2011)

    The purpose of this thread is to serve as an archive for all studies analyzing the genetic material of dead people. The majority of the studies deal with ancient specimens, but there are a few that deal with relatively recent historic figures. Although, you wont find articles or research papers of Marylin Monroe's haplogroup and I would like to keep it that way. That is much to recent. However, if one day they test Princess Diana, that would be appropriate to post in this thread because she has a known pedigree that we can trace back many generations and is relevant to continental Europe as well.

    Again, the studies are arranged by date with the most recent year posted at the top. The month was not taken into account.

    Order of information for each study (within quote box): Date, author, Title (link to pdf of entire research paper), and finally the ABSTRACT.

    Sometimes I ran into a paywall when searching for the entire document. If I did you will see "Paywall" after the title. If I could not get to the entire document due to failed links, etc., it will read "NULL" after the title.

    If I could not find the abstract, that section will also read as "NULL". That doesn't mean there is not one out there, it just means I only searched maybe 4-5 links and moved on.

    If I missed any important papers, please post them below. If you could follow the same layout I would appreciate it.

    Thanks

    2010, Zhang, et al. Prehistorical East-West admixture of maternal lineages in a 2,500-year-old population in Xinjiang

    ABSTRACT As an area of contact between Asia and Europe, Central Asia witnessed a scenario of complex cultural developments, extensive migratory movements, and biological admixture between West and East Eurasians. However, the detanglement of this complexity of diversity requires an understanding of prehistoric contacts of the people from the West and the East on the Eurasia continent. We demonstrated the presence of genetic admixture of West and East in a population of 35 inhabitants excavated in Gavaerk in southern Xinjiang and dated 2,800-2,100 years before present by analyzing their mitochondrial DNA variations. This result indicates that the initial contact of the East and the West Eurasians occurred further east than Central Asia as early as 2,500 years ago. Am J Phys Anthropol, 2010. © 2009 Wiley-Liss, Inc.
    2010, Tomczyk, et al. Anthropological analysis of the osteological material from an ancient tomb (Early Bronze Age) from the middle Euphrates valley, Terqa (Syria): Paywall

    ABSTRACT Terqa, situated on the right bank of the Middle Euphrates, is known to have been a site already in the third and second millennium BC. Excavations which take place in this region aim to provide answers for numerous significant issues connected with the origins of human civilisation. In 2008 season we found a tomb dated 2650-2450 BC, consisting of two chambers with stone domes. The smaller chamber contained many luxury grave goods. The other one was bigger and contained human skeletons.
    The first skeleton belonged to a man, 45/50 years old. It is extremely heavy and large. On the right humerus, near the proximal edge, we found two cuts. The healed edges of the wound suggest that the man from Terqa survived after the wound was inflicted. Many muscular attachments were clearly marked on the bones and bone robustness was far above the average, which may suggest that the skeleton belonged to a warrior. These observations correspond to the fact that the bronze part of a belt together with bronze weapon-blades was found on the right side of the hip.
    The second skeleton, which belonged to a female who was about 40/44 years old, was found in an anatomical position. The chamber also contained an almost complete skeleton of a sheep. The morphology of the forearm of the female suggested strenuous activity. From this skeleton was successfully isolated HVR1 fragment. The main mutation indicated that the analysed mtDNA belonged to haplogroup K. Copyright © 2010 John Wiley & Sons, Ltd.
    2010, Crubezy, et al. Human Evolution in Siberia- From Frozen Bodies to Ancient DNA

    ABSTRACT Background
    The Yakuts contrast strikingly with other populations from Siberia due to their cattle- and horse-breeding economy as well as their Turkic language. On the basis of ethnological and linguistic criteria as well as population genetic studies, it has been assumed that they originated from South Siberian populations. However, many questions regarding the origins of this intriguing population still need to be clarified (e.g. the precise origin of paternal lineages and the admixture rate with indigenous populations). This study attempts to better understand the origins of the Yakuts by performing genetic analyses on 58 mummified frozen bodies dated from the 15th to the 19th century, excavated from Yakutia (Eastern Siberia).
    Results
    High quality data were obtained for the autosomal STRs, Y-chromosomal STRs and SNPs and mtDNA due to exceptional sample preservation. A comparison with the same markers on seven museum specimens excavated 3 to 15 years ago showed significant differences in DNA quantity and quality. Direct access to ancient genetic data from these molecular markers combined with the archaeological evidence, demographical studies and comparisons with 166 contemporary individuals from the same location as the frozen bodies helped us to clarify the microevolution of this intriguing population.
    Conclusion
    We were able to trace the origins of the male lineages to a small group of horse-riders from the Cis-Baďkal area. Furthermore, mtDNA data showed that intermarriages between the first settlers with Evenks women led to the establishment of genetic characteristics during the 15th century that are still observed today.
    2010, Li, et al. Evidence tha a West-East admixed population Lived in the Tarim Basin as Early as the Early Bronze Age

    ABSTRACT The Tarim Basin, located on the ancient Silk Road, played a very important role in the history of human migration and cultural communications between the West and the East. However, both the exact period at which the relevant events occurred and the origins of the people in the area remain very obscure. In this paper, we present data from the analyses of both Y chromosomal and mitochondrial DNA (mtDNA) derived from human remains excavated from the Xiaohe cemetery, the oldest archeological site with human remains discovered in the Tarim Basin thus far.
    Results
    Mitochondrial DNA analysis showed that the Xiaohe people carried both the East Eurasian haplogroup (C) and the West Eurasian haplogroups (H and K), whereas Y chromosomal DNA analysis revealed only the West Eurasian haplogroup R1a1a in the male individuals.
    Conclusion
    Our results demonstrated that the Xiaohe people were an admixture from populations originating from both the West and the East, implying that the Tarim Basin had been occupied by an admixed population since the early Bronze Age. To our knowledge, this is the earliest genetic evidence of an admixed population settled in the Tarim Basin.
    2010, Krause, et al. A Complete mtDNA Genome of an Early Modern Human from Kostenki, Russia

    ABSTRACT Endogenous ancient DNA can often be identified statistically based on a set of physical features ► This allows DNA sequences from well-preserved remains of early modern humans to be determined ► The first complete mtDNA from an early modern human is determined using this approach
    Summary

    The recovery of DNA sequences from early modern humans (EMHs) could shed light on their interactions with archaic groups such as Neandertals and their relationships to current human populations. However, such experiments are highly problematic because present-day human DNA frequently contaminates bones [1,2]. For example, in a recent study of mitochondrial (mt) DNA from Neolithic European skeletons, sequence variants were only taken as authentic if they were absent or rare in the present population, whereas others had to be discounted as possible contamination [3,4]. This limits analysis to EMH individuals carrying rare sequences and thus yields a biased view of the ancient gene pool. Other approaches of identifying contaminating DNA, such as genotyping all individuals who have come into contact with a sample, restrict analyses to specimens where this is possible [5,6] and do not exclude all possible sources of contamination. By studying mtDNA in Neandertal remains, where contamination and endogenous DNA can be distinguished by sequence, we show that fragmentation patterns and nucleotide misincorporations can be used to gauge authenticity of ancient DNA sequences. We use these features to determine a complete mtDNA sequence from a ∼30,000-year-old EMH from the Kostenki 14 site in Russia.
    2010, Kim, et al. A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia

    ABSTRACT We analyzed mitochondrial DNA (mtDNA), Y-chromosome single nucleotide polymorphisms (Y-SNP), and autosomal short tandem repeats (STR) of three skeletons found in a 2,000-year-old Xiongnu elite cemetery in Duurlig Nars of Northeast Mongolia. This study is one of the first reports of the detailed genetic analysis of ancient human remains using the three types of genetic markers. The DNA analyses revealed that one subject was an ancient male skeleton with maternal U2e1 and paternal R1a1 haplogroups. This is the first genetic evidence that a male of distinctive Indo-European lineages (R1a1) was present in the Xiongnu of Mongolia. This might indicate an Indo-European migration into Northeast Asia 2,000 years ago. Other specimens are a female with mtDNA haplogroup D4 and a male with Y-SNP haplogroup C3 and mtDNA haplogroup D4. Those haplogroups are common in Northeast Asia. There was no close kinship among them. The genetic evidence of U2e1 and R1a1 may help to clarify the migration patterns of Indo-Europeans and ancient East-West contacts of the Xiongnu Empire. Artifacts in the tombs suggested that the Xiongnu had a system of the social stratification. The West Eurasian male might show the racial tolerance of the Xiongnu Empire and some insight into the Xiongnu society.
    2009, Keyser, et al. Ancient DNA provides new insights into the history of south Siberian Kurgan people

    ABSTRACT To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the search of the geographic origin and physical traits of these south Siberian specimens, we also typed phenotype-informative single nucleotide polymorphisms. Our autosomal, Y-chromosomal and mitochondrial DNA analyses reveal that whereas few specimens seem to be related matrilineally or patrilineally, nearly all subjects belong to haplogroup R1a1-M17 which is thought to mark the eastward migration of the early Indo-Europeans. Our results also confirm that at the Bronze and Iron Ages, south Siberia was a region of overwhelmingly predominant European settlement, suggesting an eastward migration of Kurgan people across the Russo-Kazakh steppe. Finally, our data indicate that at the Bronze and Iron Age timeframe, south Siberians were blue (or green)-eyed, fair-skinned and light-haired people and that they might have played a role in the early development of the Tarim Basin civilization. To the best of our knowledge, no equivalent molecular analysis has been undertaken so far.
    2009, Matheson, et al. Molecular Exploration of the First-Century Tomb of the Shroud in Akeldama, Jerusalem

    ABSTRACT The Tomb of the Shroud is a first-century C.E. tomb discovered in Akeldama, Jerusalem, Israel that had been illegally entered and looted. The investigation of this tomb by an interdisciplinary team of researchers began in 2000. More than twenty stone ossuaries for collecting human bones were found, along with textiles from a burial shroud, hair and skeletal remains. The research presented here focuses on genetic analysis of the bioarchaeological remains from the tomb using mitochondrial DNA to examine familial relationships of the individuals within the tomb and molecular screening for the presence of disease. There are three mitochondrial haplotypes shared between a number of the remains analyzed suggesting a possible family tomb. There were two pathogens genetically detected within the collection of osteological samples, these were Mycobacterium tuberculosis and Mycobacterium leprae. The Tomb of the Shroud is one of very few examples of a preserved shrouded human burial and the only example of a plaster sealed loculus with remains genetically confirmed to have belonged to a shrouded male individual that suffered from tuberculosis and leprosy dating to the first-century C.E. This is the earliest case of leprosy with a confirmed date in which M. leprae DNA was detected.
    2009, Malmstrom, et al. Ancient DNA Reveals Lack of Continuity between Neolithic Hunter-Gatherers and Contemporary Scandinavians

    ABSTRACT The driving force behind the transition from a foraging to a farming lifestyle in prehistoric Europe (Neolithization) has been debated for more than a century [1,2,3]. Of particular interest is whether population replacement or cultural exchange was responsible [3,4,5]. Scandinavia holds a unique place in this debate, for it maintained one of the last major hunter-gatherer complexes in Neolithic Europe, the Pitted Ware culture [6]. Intriguingly, these late hunter-gatherers existed in parallel to early farmers for more than a millennium before they vanished some 4,000 years ago [7,8]. The prolonged coexistence of the two cultures in Scandinavia has been cited as an argument against population replacement between the Mesolithic and the present [7,8]. Through analysis of DNA extracted from ancient Scandinavian human remains, we show that people of the Pitted Ware culture were not the direct ancestors of modern Scandinavians (including the Saami people of northern Scandinavia) but are more closely related to contemporary populations of the eastern Baltic region. Our findings support hypotheses arising from archaeological analyses that propose a Neolithic or post-Neolithic population replacement in Scandinavia [7]. Furthermore, our data are consistent with the view that the eastern Baltic represents a genetic refugia for some of the European hunter-gatherer populations.
    2009, Helgason, et al. The Oseberg Ship Burial, Norway: New Thoughts On the Skeletons From the Grave Mound: Paywall

    ABSTRACT In 1904, a Viking Age ship was found and excavated in Oseberg, on the west side of the Oslo Fjord, south of Oslo, Norway. The skeletal remnants of two females buried onboard were anthropologically examined during the inter-war years. Questions surrounding their identities have prompted much speculation, and many people like to believe that one of the women could be Queen Ĺsa, the grandmother of Norway's first king. When the skeletons were reburied in 1948, a few smaller pieces were held back and stored in the Anatomical Institute at the University of Oslo. Those fragments have now been radiocarbon dated at 1220±40 and 1230±40 BP. Their similar 13 = —21.6 percent/—21.0 percent indicates that they both were nourished by a diet consisting primarily of terrestrial food and only to a lesser degree by fish. To answer the question of whether the two women were related, Dr Tom Gilbert at the Panum Institute in Copenhagen managed to obtain a DNA profile from the younger of the two, which profile indicates that her sample falls into the haplogroup U7. This finding is interesting, as this haplogroup is nearly absent in modern Europeans but is common in Iranians. Perhaps this could mean that the young lady's ancestors came from the district around the Black Sea, as Snorri Sturlusson notes in his Saga. Unfortunately, the bones from the older woman were too contaminated to provide a clear profile. Because there is reason to fear that the reburied skeletal material will slowly disintegrate in the coffins, some scholars desired that the mound be reopened in order to save the remains and to determine whether it is possible to obtain another DNA profile before such an opportunity is lost.
    2009, Helgason, et al. Sequences From First Settlers Reveal Rapid Evolution in Icelandic mtDNA Pool

    ABSTRACT A major task in human genetics is to understand the nature of the evolutionary processes that have shaped the gene pools of contemporary populations. Ancient DNA studies have great potential to shed light on the evolution of populations because they provide the opportunity to sample from the same population at different points in time. Here, we show that a sample of mitochondrial DNA (mtDNA) control region sequences from 68 early medieval Icelandic skeletal remains is more closely related to sequences from contemporary inhabitants of Scotland, Ireland, and Scandinavia than to those from the modern Icelandic population. Due to a faster rate of genetic drift in the Icelandic mtDNA pool during the last 1,100 years, the sequences carried by the first settlers were better preserved in their ancestral gene pools than among their descendants in Iceland. These results demonstrate the inferential power gained in ancient DNA studies through the application of population genetics analyses to relatively large samples.
    2009, Coble, et al. Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis

    ABSTRACT One of the greatest mysteries for most of the twentieth century was the fate of the Romanov family, the last Russian monarchy. Following the abdication of Tsar Nicholas II, he and his wife, Alexandra, and their five children were eventually exiled to the city of Yekaterinburg. The family, along with four loyal members of their staff, was held captive by members of the Ural Soviet. According to historical reports, in the early morning hours of July 17, 1918 the entire family along with four loyal members of their staff was executed by a firing squad. After a failed attempt to dispose of the remains in an abandoned mine shaft, the bodies were transported to an open field only a few kilometers from the mine shaft. Nine members of the group were buried in one mass grave while two of the children were buried in a separate grave. With the official discovery of the larger mass grave in 1991, and subsequent DNA testing to confirm the identities of the Tsar, the Tsarina, and three of their daughters – doubt persisted that these remains were in fact those of the Romanov family. In the summer of 2007, a group of amateur archeologists discovered a collection of remains from the second grave approximately 70 meters from the larger grave. We report forensic DNA testing on the remains discovered in 2007 using mitochondrial DNA (mtDNA), autosomal STR, and Y- STR testing. Combined with additional DNA testing of material from the 1991 grave, we have virtually irrefutable evidence that the two individuals recovered from the 2007 grave are the two missing children of the Romanov family: the Tsarevich Alexei and one of his sisters.
    2009, Vanek, et al. Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material

    ABSTRACT Aim
    To develop novel DNA extraction and typing procedure for DNA identification of the 7th century human remains, determine the familiar relationship between the individuals, estimate the Y-chromosome haplogroup, and compare the Y-chromosome haplotype with the contemporary populations.
    Methods
    DNA from preserved femur samples was extracted using the modified silica-based extraction technique. Polymerase chain reaction amplification was performed using human identification kits MiniFiler, Identifiler, and Y-filer and also laboratory-developed and validated Y-chromosome short tandem repeat (STR) pentaplexes with short amplicons.
    Results
    For 244A, 244B, 244C samples, full autosomal DNA profiles (15 STR markers and Amelogenin) and for 244D, 244E, 244F samples, MiniFiler profiles were produced. Y-chromosome haplotypes consisting of up to 24 STR markers were determined and used to predict the Y-chromosome haplogroups and compare the resulting haplotypes with the current population. Samples 244A, 244B, 244C, and 244D belong to Y-chromosome haplogroup R1b and the samples 244E and 244F to haplogroup G2a. Comparison of ancient haplotypes with the current population yielded numerous close matches with genetic distance bellow 2.
    Conclusion
    Application of forensic genetics in archaeology enables retrieving new types of information and helps in data interpretation. The number of successfully typed autosomal and Y-STR loci from ancient specimens in this study is one of the largest published so far for aged samples.

    2009, Bouakaze, et al. Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis

    ABSTRACT In the present study, a multiplexed genotyping assay for ten single nucleotide polymorphisms (SNPs) located within six pigmentation candidate genes was developed on modern biological samples and applied to DNA retrieved from 25 archeological human remains from southern central Siberia dating from the Bronze and Iron Ages. SNP genotyping was successful for the majority of ancient samples and revealed that most probably had typical European pigment features, i.e., blue or green eye color, light hair color and skin type, and were likely of European individual ancestry. To our knowledge, this study reports for the first time the multiplexed typing of autosomal SNPs on aged and degraded DNA. By providing valuable information on pigment traits of an individual and allowing individual biogeographical ancestry estimation, autosomal SNP typing can improve ancient DNA studies and aid human identification in some forensic casework situations when used to complement conventional molecular markers.
    2009, Fregel, et al. Demographic history of Canary Islands male gene-pool: replacement of native lineages by European

    ABSTRACT The origin and prevalence of the prehispanic settlers of the Canary Islands has attracted great multidisciplinary interest. However, direct ancient DNA genetic studies on indigenous and historical 17th-18th century remains, using mitochondrial DNA as a female marker, have only recently been possible. In the present work, the analysis of Y-chromosome polymorphisms in the same samples, has shed light on the way the European colonization affected male and female Canary Island indigenous genetic pools, from the conquest to present-day times.
    2009, Di Bernardo, et al. Ancient DNA and Family Relationships in a Pompeian House: Paywall

    ABSTRACT Archaeological, anthropological and pathological data suggest that thirteen skeletons found in a house at the Pompeii archaeological site, dated to 79 A.D., belong to one family. To verify this and to identify the relationships between these individuals, we analyzed DNA extracted from bone specimens. Specifically, hypervariable segment 1 (HVS1) of the human mitochondrial DNA (mtDNA) control region was amplified in two overlapping polymerase chain reactions and the sequences were compared to the revised Cambridge Reference Sequence. As independent controls, other polymorphic sites in HVS1, HVS2 and in the coding region were analyzed. We also amplified some short tandem repeats of the thirteen specimens. This study revealed that six of the thirteen individuals are indeed closely related.
    2009, Bogdanowicz, et al. Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus

    ABSTRACT We report the results of mitochondrial and nuclear DNA analyses of skeletal remains exhumed in 2005 at Frombork Cathedral in Poland, that are thought to be those of Nicolaus Copernicus (1473–1543). The analyzed bone remains were found close to the altar Nicolaus Copernicus was responsible for during his tenure as priest. The mitochondrial DNA (mtDNA) profiles from 3 upper molars and the femurs were identical, suggesting that the remains originate from the same individual. Identical mtDNA profiles were also determined in 2 hairs discovered in a calendar now exhibited at Museum Gustavianum in Uppsala, Sweden. This calendar was the property of Nicolaus Copernicus for much of his life. These findings, together with anthropological data, support the identification of the human remains found in Frombork Cathedral as those of Nicolaus Copernicus. Up-to-now the particular mtDNA haplotype has been observed only 3 times in Germany and once in Denmark. Moreover, Y-chromosomal and autosomal short tandem repeat markers were analyzed in one of the tooth samples, that was much better preserved than other parts of the skeleton. Molecular sex determination revealed that the skeleton is from a male individual, and this result is consistent with morphological investigations. The minimal Y-chromosomal haplotype determined in the putative remains of Nicolaus Copernicus has been observed previously in many countries, including Austria, Germany, Poland, and the Czech Republic. Finally, an analysis of the SNP located in the HERC2 gene revealed the C/C genotype that is predominant in blue-eyed humans, suggesting that Copernicus may have had a light iris color.
    2009, Bramanti, et al. Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe’s First Farmers

    ABSTRACT After the domestication of animals and crops in the Near East some 11,000 years ago, farming had reached much of central Europe by 7500 years before the present. The extent to which these early European farmers were immigrants or descendants of resident hunter-gatherers who had adopted farming has been widely debated. We compared new mitochondrial DNA (mtDNA) sequences from late European hunter-gatherer skeletons with those from early farmers and from modern Europeans. We find large genetic differences between all three groups that cannot be explained by population continuity alone. Most (82%) of the ancient hunter-gatherers share mtDNA types that are relatively rare in central Europeans today. Together, these analyses provide persuasive evidence that the first farmers were not the descendants of local hunter-gatherers but immigrated into central Europe at the onset of the Neolithic.
    2009, Endicott, et al. Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman

    ABSTRACT Background
    Progress in the field of human ancient DNA studies has been severely restricted due to the myriad sources of potential contamination, and because of the pronounced difficulty in identifying authentic results. Improving the robustness of human aDNA results is a necessary pre-requisite to vigorously testing hypotheses about human evolution in Europe, including possible admixture with Neanderthals. This study approaches the problem of distinguishing between authentic and contaminating sequences from common European mtDNA haplogroups by applying a multiplexed Single-Base-Extension assay, containing both control and coding region sites, to DNA extracted from the Tyrolean Iceman.
    Results
    The multiplex assay developed for this study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets. Controlled contamination experiments show that the correct results are returned by the multiplex assay even in the presence of substantial amounts of exogenous DNA. The overall level of discrimination achieved by targeting both control and coding region polymorphisms in a single reaction provides a methodology capable of dealing with most cases of homoplasy prevalent in European haplogroups.
    Conclusion
    The new genotyping results for the Iceman confirm the extreme fallibility of human aDNA studies in general, even when authenticated by independent replication. The sensitivity and accuracy of the multiplex Single-Base-Extension methodology forms part of an emerging suite of alternative techniques for the accurate retrieval of ancient DNA sequences from both anatomically modern humans and Neanderthals. The contamination of laboratories remains a pressing concern in aDNA studies, both in the pre and post-PCR environments, and the adoption of a forensic style assessment of a priori risks would significantly improve the credibility of results.
    2008, Keyser, et al. Tracing back ancient south Siberian population history using mitochondrial and Y-chromosome SNPs

    ABSTRACT Southern Siberian populations have been the subject of intense works attempting to shed light on the peopling of Siberia. From these works, it appeared that south Siberian populations are the reflect of the complex interactions that occurred at different times between Eastern and Western Eurasian people. According to paleoantropological and modern molecular data, European populations predominated in south Siberia during the Bronze age whereas Asian component began to increase from the Iron age. To test this hypothesis we determined the mitochondrial and Y-chromosomal haplotypes and haplogroups of 29 ancient specimens from the Krasnoyarsk area (Southern Central Siberia) dating from the Bronze and Iron ages. The data obtained supported the hypothesis of the prevalence of Western Eurasian component in Southern Central Siberia in the Bronze age. Moreover, they allowed us to propose a geographic origin of the Krasnoyarsk population during this period.
    2008, Rogaev, et al. Genomic identification in the historical case of the Nicholas II royal family

    ABSTRACT Accurate unambiguous identification of ancient or historical specimens can potentially be achieved by DNA analysis. The controversy surrounding the fate of the last Russian Emperor, Nicholas II, and his family has persisted, in part, because the bodies of 2 children, Prince Alexei and 1 of his sisters, have not been found. A grave discovered in 1991 contained remains putatively identified as those of the Russian Royal family. However, not all family members were represented. Here, we report the results of genomic analyses of new specimens, the human remains of 2 burned skeletons exhumed from a grave discovered in July 2007, and the results of a comprehensive genomic analysis of remains from the 1991 discovery. Additionally, ≈117 years old archival blood specimens from Nicholas II were obtained and genotyped, which provided critical material for the specific determination of individual identities and kinship identifications. Results of genotypic analyses of damaged historical specimens were evaluated alongside samples from descendants of both paternal and maternal lineages of the European Royal families, and the results conclusively demonstrate that the recently found remains belong to children of Nicholas II: Prince Alexei and his sister. The results of our studies provide unequivocal evidence that the remains of Nicholas II and his entire family, including all 5 children, have been identified. We demonstrate that convergent analysis of complete mitochondrial genome sequences combined with nuclear DNA profiles is an efficient and conclusive method for individual and kinship identification of specimens obtained from old historic relics.
    2008, Haak, et al. Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age

    ABSTRACT In 2005 four outstanding multiple burials were discovered near Eulau, Germany. The 4,600-year-old graves contained groups of adults and children buried facing each other. Skeletal and artifactual evidence and the simultaneous interment of the individuals suggest the supposed families fell victim to a violent event. In a multidisciplinary approach, archaeological, anthropological, geochemical (radiogenic isotopes), and molecular genetic (ancient DNA) methods were applied to these unique burials. Using autosomal, mitochondrial, and Y-chromosomal markers, we identified genetic kinship among the individuals. A direct child-parent relationship was detected in one burial, providing the oldest molecular genetic evidence of a nuclear family. Strontium isotope analyses point to different origins for males and children versus females. By this approach, we gain insight into a Late Stone Age society, which appears to have been exogamous and patrilocal, and in which genetic kinship seems to be a focal point of social organization.
    2008, Melchior, et al. Rare mtDNA haplogroups and genetic differences in rich and poor Danish Iron-Age villages: Paywall

    ABSTRACT The Roman Iron-Age (0-400 AD) in Southern Scandinavia was a formative period, where the society changed from archaic chiefdoms to a true state formation, and the population composition has likely changed in this period due to immigrants from Middle Scandinavia. We have analyzed mtDNA from 22 individuals from two different types of settlements, Břgebjerggĺrd and Skovgaarde, in Southern Denmark. Břgebjerggĺrd (ca. 0 AD) represents the lowest level of free, but poor farmers, whereas Skovgaarde 8 km to the east (ca. 200-270 AD) represents the highest level of the society. Reproducible results were obtained for 18 subjects harboring 17 different haplotypes all compatible (in their character states) with the phylogenetic tree drawn from present day populations of Europe. This indicates that the South Scandinavian Roman Iron-Age population was as diverse as Europeans are today. Several of the haplogroups (R0a, U2, I) observed in Břgebjerggĺrd are rare in present day Scandinavians. Most significantly, R0a, harbored by a male, is a haplogroup frequent in East Africa and Arabia but virtually absent among modern Northern Europeans. We suggest that this subject was a soldier or a slave, or a descendant of a female slave, from Roman Legions stationed a few hundred kilometers to the south. In contrast, the haplotype distribution in the rich Skovgaarde shows similarity to that observed for modern Scandinavians, and the Břgebjerggĺrd and Skovgaarde population samples differ significantly (P approximately 0.01). Skovgaarde may represent a new upper-class formed by migrants from Middle Scandinavia bringing with them Scandinavian haplogroups. Copyright 2007 Wiley-Liss, Inc.
    2008, Ermini, et al. Complete Mitochondrial Genome Sequence of the Tyrolean Iceman: NULL

    ABSTRACT The Tyrolean Iceman was a witness to the Neolithic–Copper Age transition in Central Europe 5350–5100 years ago, and his mummified corpse was recovered from an Alpine glacier on the Austro-Italian border in 1991 [1]. Using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products, we have retrieved the first complete mitochondrial-genome sequence of a prehistoric European. We have then compared it with 115 related extant lineages from mitochondrial haplogroup K. We found that the Iceman belonged to a branch of mitochondrial haplogroup K1 that has not yet been identified in modern European populations. This is the oldest complete Homo sapiens mtDNA genome generated to date. The results point to the potential significance of complete-ancient-mtDNA studies in addressing questions concerning the genetic history of human populations that the phylogeography of modern lineages is unable to tackle.
    2008, Bramanti, et al. Ancient DNA: Genetic Analysis of aDNA from Sixteen Skeletons of the Vedrovice: Anthropologie, Volume 46/2-3, pp. 153-160

    ABSTRACT Bone and tooth samples from sixteen individuals of the Vedrovice skeletal collection were submitted to ancient DNA (aDNA) analyses of mitochondrial as well as nuclear DNA. Compared with other aDNA prehistoric samples analysed at the University of Mainz aDNA laboratories, the Vedrovice samples are generally not among the best preserved due to a low content of severely damaged DNA molecules. Only 37.5% of the individuals yielded consistent results reproducible from different extracts. It was possible to type mitochondrial DNA samples from three male and three female individuals. The resulting six different DNA sequences (haplotypes) were classified into 4 haplogroups: haplogroup K (represented by two individuals), haplogroup T2 (also represented by two individuals), haplogroup H and haplogroup J1c, each represented by one individual. All of these haplogroups have been identified amongst modern European populations, although the individual haplotypes are predominantly represented among today’s Eastern-European populations. Two of the Vedrovice haplotypes are unique, and as yet not identified among the currently known modern lineages. Haplotype N1a, whose incidence among LBK individuals is relatively high elsewhere (Haak et al. 2005), was not recovered among the analysed individuals from Vedrovice.
    2008, Caramelli, et al. A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences

    ABSTRACT Background
    DNA sequences from ancient speciments may in fact result from undetected contamination of the ancient specimens by modern DNA, and the problem is particularly challenging in studies of human fossils. Doubts on the authenticity of the available sequences have so far hampered genetic comparisons between anatomically archaic (Neandertal) and early modern (Cro-Magnoid) Europeans.
    Methodology/Principal Findings
    We typed the mitochondrial DNA (mtDNA) hypervariable region I in a 28,000 years old Cro-Magnoid individual from the Paglicci cave, in Italy (Paglicci 23) and in all the people who had contact with the sample since its discovery in 2003. The Paglicci 23 sequence, determined through the analysis of 152 clones, is the Cambridge reference sequence, and cannot possibly reflect contamination because it differs from all potentially contaminating modern sequences.
    Conclusions/Significance
    The Paglicci 23 individual carried a mtDNA sequence that is still common in Europe, and which radically differs from those of the almost contemporary Neandertals, demonstrating a genealogical continuity across 28,000 years, from Cro-Magnoid to modern Europeans. Because all potential sources of modern DNA contamination are known, the Paglicci 23 sample will offer a unique opportunity to get insight for the first time into the nuclear genes of early modern Europeans.
    2008, Gao, et al. Mitochondrial DNA analysis of human remains from the Yuansha site in Xinjiang, China: Paywall

    ABSTRACT The Yuansha site is located in the center of the Taklimakan Desert of Xinjiang, in the southern Silk Road region. MtDNA was extracted from fifteen human remains excavated from the Yuansha site, dating back 2,000–2,500 years. Analysis of the phylogenetic tree and the multidimensional scaling (MDS) reveals that the Yuansha population has relatively close relationships with the modern populations of South Central Asia and Indus Valley, as well as with the ancient population of Chawuhu.
    2008, Gamba, et al. Population genetics and DNA preservation in ancient human remains from Eastern Spain

    ABSTRACT This work aims to establish the genetic relationship between the different settlers of Eastern Spain and also to determine the conditions of DNA preservation. We studied two overlapping sequences (16,126–16,251 and 16,256–16,369) from mitochondrial HVR-I in 37 bone and teeth samples from 17 archaeological sites of Spanish Levant. Consistence of the results was established by repeated replication of amplifications. Approximately, 50% of the samples yielded reproducible results. The high efficiency in DNA recovery indicates that sample preservation mainly depends on the depositional environment rather than on sample age. Haplogroup V, an alleged marker of Paleolithic newcomers in Europe, has been found in an unusual elevated frequency (1 Calcolithic and 2 Iberian samples). This result could suggest a more southern distribution of Palaeolithic ice refugia. Moreover, we found Haplogroup L in Calcolithic samples. This may suggest the presence of a prehistoric African genetic background in eastern Iberia.
    2008, Fernández, et al. Mitochondrial DNA genetic relationships at the ancient Neolithic site of Tell Halula

    ABSTRACT The aim of the study was to establish familiar relationship among individuals buried at different archaeological phases and houses from the Neolithic site of Tell Halula (Syria, 8800 b.p.). Sixty-six samples belonging to 50 different individuals were studied, and a fragment of 300 bp of mitochondrial DNA HVRI was amplified in the whole sample. It was possible to recover 20 authenticated mitochondrial DNA sequences (30,7%) in the analyzed sample. The obtained mitochondrial DNA results suggest possible relationships not only among individuals buried into different archaeological phases of the same house but also through different houses from different archaeological phases. These results point at an homogeneous population structure of this Neolithic community. The amount of recovered sequences indicates the extent of preservation of critical samples in a dry and hot soil.
    2008, Melchior, et al. Evidence of Authentic DNA from Danish Viking Age Skeletons Untouched by Humans for 1,000 Years

    ABSTRACT Background
    Given the relative abundance of modern human DNA and the inherent impossibility for incontestable proof of authenticity, results obtained on ancient human DNA have often been questioned. The widely accepted rules regarding ancient DNA work mainly affect laboratory procedures, however, pre-laboratory contamination occurring during excavation and archaeological-/anthropological handling of human remains as well as rapid degradation of authentic DNA after excavation are major obstacles.
    Methodology/Principal Findings
    We avoided some of these obstacles by analyzing DNA from ten Viking Age subjects that at the time of sampling were untouched by humans for 1,000 years. We removed teeth from the subjects prior to handling by archaeologists and anthropologists using protective equipment. An additional tooth was removed after standard archaeological and anthropological handling. All pre-PCR work was carried out in a “clean- laboratory” dedicated solely to ancient DNA work. Mitochondrial DNA was extracted and overlapping fragments spanning the HVR-1 region as well as diagnostic sites in the coding region were PCR amplified, cloned and sequenced. Consistent results were obtained with the “unhandled” teeth and there was no indication of contamination, while the latter was the case with half of the “handled” teeth. The results allowed the unequivocal assignment of a specific haplotype to each of the subjects, all haplotypes being compatible in their character states with a phylogenetic tree drawn from present day European populations. Several of the haplotypes are either infrequent or have not been observed in modern Scandinavians. The observation of haplogroup I in the present study (<2% in modern Scandinavians) supports our previous findings of a pronounced frequency of this haplogroup in Viking and Iron Age Danes.
    Conclusion
    The present work provides further evidence that retrieval of ancient human DNA is a possible task provided adequate precautions are taken and well-considered sampling is applied.
    2008, Chilvers, et al. Ancient DNA in human bones from Neolithic and Bronze Age sites in Greece and Crete: Paywall

    ABSTRACT Attempts were made to detect ancient DNA (aDNA) in samples of 88 human skeletons from eight Neolithic and Bronze Age sites in Greece and Crete. Ancient DNA was absent in specimens from Nea Nikomedia, Lerna, Karaviádena (Zakro), Antron Grave Circle A and Mycenae Grave Circle A. For each of three skeletons from Antron Grave Circle B that were sampled, polymerase chain reactions (PCRs) gave products for nuclear but not mitochondrial DNA, but amplicon yield was low and inconsistent with replicate PCRs failing to give reproducible results. With specimens from Mycenae Grave Circle B, evidence for mitochondrial aDNA was obtained for four of the 22 skeletons that were studied, and at Kouphovouno evidence for mitochondrial and/or nuclear aDNA was obtained with eight of the 20 skeletons that were examined. We conclude that, although aDNA might be present in some Eastern Mediterranean skeletons from later centuries of the Bronze Age, it is not commonly found in material from this period and is likely to be absent from older material.
    2008, Bouwman, et al. Kinship between burials from Grave Circle B at Mycenae revealed by ancient DNA typing: Paywall

    ABSTRACT The richness of the burials in Grave Circle B at Mycenae, Greece indicates that the 35 people interred there held elite status during their lifetimes 3500 years ago. It has been speculated that the groups of burials represent different dynasties or branches of the same family. To test this hypothesis, we carried out an exhaustive ancient DNA (aDNA) study of 22 of the skeletons. We were unable to identify nuclear aDNA in any specimen, but we obtained authentic mitochondrial aDNA sequences for four individuals. The results were compared with facial reconstructions and interpreted within the archaeological context represented by the organisation of the graves and the positions of the burials within the graves. We conclude that the contemporaneous male Γ55 and female Γ58 skeletons, which both possess the UK mitochondrial haplogroup, were brother and sister. The implication is that Γ58 was buried in Grave Circle B not because of a marital connection but because she held a position of authority by right of birth. The results illustrate the difficulty in using aDNA to study kinship relationships between archaeological specimens, but also show that aDNA can advance understanding of kinship when used to test hypotheses constructed from other evidence.
    yDNA: R1a1a1
    mtDNA: H4a1
    Ancestry Painting: 100% European
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    Ancient DNA Literature (Continued)

    2007, Caramelli, et al. Genetic analysis of the skeletal remains attributed to Francesco Petrarca

    ABSTRACT We report on the mitochondrial DNA (mtDNA) analysis of the supposed remains of Francesco Petrarca exhumed in November 2003, from the S. Maria Assunta church, in Arquŕ Padua (Italy) where he died in 1374. The optimal preservation of the remains allowed the retrieval of sufficient mtDNA for genetic analysis. DNA was extracted from a rib and a tooth and mtDNA sequences were determined in multiple clones using the strictest criteria currently available for validation of ancient DNA sequences, including independent replication. MtDNA sequences from the tooth and rib were not identical, suggesting that they belonged to different individuals. Indeed, molecular gender determination showed that the postcranial remains belonged to a male while the skull belonged to a female. Historical records indicated that the remains were violated in 1630, possibly by thieves. These results are consistent with morphological investigations and confirm the importance of integrating molecular and morphological approaches in investigating historical remains.
    2007, Dissing, et al. The last Viking King: a royal maternity case solved by ancient DNA analysis: Paywall

    ABSTRACT The last of the Danish Viking Kings, Sven Estridsen, died in a.d. 1074 and is entombed in Roskilde Cathedral with other Danish kings and queens. Sven's mother, Estrid, is entombed in a pillar across the chancel. However, while there is no reasonable doubt about the identity of Sven, there have been doubts among historians whether the woman entombed was indeed Estrid. To shed light on this problem, we have extracted and analysed mitochondrial DNA (mtDNA) from pulp of teeth from each of the two royals. Four overlapping DNA-fragments covering about 400bp of hypervariable region 1 (HVR-1) of the D-loop were PCR amplified, cloned and a number of clones with each segment were sequenced. Also a segment containing the H/non-H specific nucleotide 7028 was sequenced. Consensus sequences were determined and D-loop results were replicated in an independent laboratory. This allowed the assignment of King Sven Estridsen to haplogroup H; Estrid's sequence differed from that of Sven at two positions in HVR-1, 16093T-->C and 16304T-->C, indicating that she belongs to subgroup H5a. Given the maternal inheritance of mtDNA, offspring will have the same mtDNA sequence as their mother with the exception of rare cases where the sequence has been altered by a germ line mutation. Therefore, the observation of two sequence differences makes it highly unlikely that the entombed woman was the mother of Sven. In addition, physical examination of the skeleton and the teeth strongly indicated that this woman was much younger (approximately 35 years) at the time of death than the 70 years history records tell. Although the entombed woman cannot be the Estrid, she may well be one of Sven's two daughters-in-law who were also called Estrid and who both became queens.
    2007, Caramelli, et al. Genetic variation in prehistoric Sardinia

    ABSTRACT We sampled teeth from 53 ancient Sardinian (Nuragic) individuals who lived in the Late Bronze Age and Iron Age, between 3,430 and 2,700 years ago. After eliminating the samples that, in preliminary biochemical tests, did not show a high probability to yield reproducible results, we obtained 23 sequences of the mitochondrial DNA control region, which were associated to haplogroups by comparison with a dataset of modern sequences. The Nuragic samples show a remarkably low genetic diversity, comparable to that observed in ancient Iberians, but much lower than among the Etruscans. Most of these sequences have exact matches in two modern Sardinian populations, supporting a clear genealogical continuity from the Late Bronze Age up to current times. The Nuragic populations appear to be part of a large and geographically unstructured cluster of modern European populations, thus making it difficult to infer their evolutionary relationships. However, the low levels of genetic diversity, both within and among ancient samples, as opposed to the sharp differences among modern Sardinian samples, support the hypothesis of the expansion of a small group of maternally related individuals, and of comparatively recent differentiation of the Sardinian gene pools.
    2007, Sampietro, et al. Palaeogenetic Evidence Supports a Dual Model of Neolithic Spreading into Europe

    ABSTRACT The peopling of Europe is a complex process. One of the most dramatic demographic events, the Neolithic agricultural revolution, took place in the Near East roughly 10000 years ago and then spread through the European continent. Nevertheless, the nature of this process (either cultural or demographic) is still a matter of debate among scientists. We have retrieved HVRI mitochondrial DNA sequences from 11 Neolithic remains from Granollers (Catalonia, northeast Spain) dated to 5500 years BP. We followed the proposed authenticity criteria, and we were also able, for the first time, to track down the pre-laboratory-derived contaminant sequences and consequently eliminate them from the generated cloning dataset. Phylogeographic analysis shows that the haplogroup composition of the Neolithic population is very similar to that found in modern populations from the Iberian Peninsula, suggesting a long-time genetic continuity, at least since Neolithic times. This result contrasts with that recently found in a Neolithic population from Central Europe and, therefore, raises new questions on the heterogeneity of the Neolithic dispersals into Europe. We propose here a dual model of Neolithic spread: acculturation in Central Europe and demic diffusion in southern Europe.
    2007, Tömöry, et al. Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations: Paywall

    ABSTRACT The Hungarian language belongs to the Finno-Ugric branch of the Uralic family, but Hungarian speakers have been living in Central Europe for more than 1000 years, surrounded by speakers of unrelated Indo-European languages. In order to study the continuity in maternal lineage between ancient and modern Hungarian populations, polymorphisms in the HVSI and protein coding regions of mitochondrial DNA sequences of 27 ancient samples (10th-11th centuries), 101 modern Hungarian, and 76 modern Hungarian-speaking Sekler samples from Transylvania were analyzed. The data were compared with sequences derived from 57 European and Asian populations, including Finno-Ugric populations, and statistical analyses were performed to investigate their genetic relationships. Only 2 of 27 ancient Hungarian samples are unambiguously Asian: the rest belong to one of the western Eurasian haplogroups, but some Asian affinities, and the genetic effect of populations who came into contact with ancient Hungarians during their migrations are seen. Strong differences appear when the ancient Hungarian samples are analyzed according to apparent social status, as judged by grave goods. Commoners show a predominance of mtDNA haplotypes and haplogroups (H, R, T), common in west Eurasia, while high-status individuals, presumably conquering Hungarians, show a more heterogeneous haplogroup distribution, with haplogroups (N1a, X) which are present at very low frequencies in modern worldwide populations and are absent in recent Hungarian and Sekler populations. Modern Hungarian-speaking populations seem to be specifically European. Our findings demonstrate that significant genetic differences exist between the ancient and recent Hungarian-speaking populations, and no genetic continuity is seen. (c) 2007 Wiley-Liss, Inc.
    2007, Csányi, et al. Y-Chromosome Analysis of Ancient Hungarian and Two Modern Hungarian-Speaking Populations from the Carpathian Basin: Paywall

    ABSTRACT The Hungarian population belongs linguistically to the Finno-Ugric branch of the Uralic family. The Tat C allele is an interesting marker in the Finno-Ugric context, distributed in all the Finno-Ugric-speaking populations, except for Hungarians. This question arises whether the ancestral Hungarians, who settled in the Carpathian Basin, harbored this polymorphism or not. 100 men from modern Hungary, 97 Szeklers (a Hungarian-speaking population from Transylvania), and 4 archaeologically Hungarian bone samples from the 10th century were studied for this polymorphism. Among the modern individuals, only one Szekler carries the Tat C allele, whereas out of the four skeletal remains, two possess the allele. The latter finding, even allowing for the low sample number, appears to indicate a Siberian lineage of the invading Hungarians, which later has largely disappeared.

    The two modern Hungarian-speaking populations, based on 22 Y-chromosomal binary markers, share similar components described for other Europeans, except for the presence of the haplogroup P*(xM173) in Szekler samples, which may reflect a Central Asian connection, and high frequency of haplogroup J in both Szeklers and Hungarians. MDS analysis based on haplogroup frequency values, confirms that modern Hungarian and Szekler populations are genetically closely related, and similar to populations from Central Europe and the Balkans.
    2007, Burger, et al. Absence of the lactase-persistence-associated allele in early Neolithic Europeans

    ABSTRACT Lactase persistence (LP), the dominant Mendelian trait conferring the ability to digest the milk sugar lactose in adults, has risen to high frequency in central and northern Europeans in the last 20,000 years. This trait is likely to have conferred a selective advantage in individuals who consume appreciable amounts of unfermented milk. Some have argued for the “culture-historical hypothesis,” whereby LP alleles were rare until the advent of dairying early in the Neolithic but then rose rapidly in frequency under natural selection. Others favor the “reverse cause hypothesis,” whereby dairying was adopted in populations with preadaptive high LP allele frequencies. Analysis based on the conservation of lactase gene haplotypes indicates a recent origin and high selection coefficients for LP, although it has not been possible to say whether early Neolithic European populations were lactase persistent at appreciable frequencies. We developed a stepwise strategy for obtaining reliable nuclear ancient DNA from ancient skeletons, based on (i) the selection of skeletons from archaeological sites that showed excellent biomolecular preservation, (ii) obtaining highly reproducible human mitochondrial DNA sequences, and (iii) reliable short tandem repeat (STR) genotypes from the same specimens. By applying this experimental strategy, we have obtained high-confidence LP-associated genotypes from eight Neolithic and one Mesolithic human remains, using a range of strict criteria for ancient DNA work. We did not observe the allele most commonly associated with LP in Europeans, thus providing evidence for the culture-historical hypothesis, and indicating that LP was rare in early European farmers.
    2007, Xie, et al. Evidence of ancient DNA reveals the first European lineage in Iron Age Central China

    ABSTRACT Various studies on ancient DNA have attempted to reconstruct population movement in Asia, with much interest focused on determining the arrival of European lineages in ancient East Asia. Here, we discuss our analysis of the mitochondrial DNA of human remains excavated from the Yu Hong tomb in Taiyuan, China, dated 1400 years ago. The burial style of this tomb is characteristic of Central Asia at that time. Our analysis shows that Yu Hong belonged to the haplogroup U5, one of the oldest western Eurasian-specific haplogroups, while his wife can be classified as haplogroup G, the type prevalent in East Asia. Our findings show that this man with European lineage arrived in Taiyuan approximately 1400 years ago, and most probably married a local woman. Haplogroup U5 was the first west Eurasian-specific lineage to be found in the central part of ancient China, and Taiyuan may be the easternmost location of the discovered remains of European lineage in ancient China.
    2007, Xie, et al. Mitochondrial DNA analysis of ancient Sampula population in Xinjiang: Paywall

    ABSTRACT The archaeological site fo Sampula cemetery was located about 14 km to the southwest of the Luo County in Xinjiang Khotan, China, belonging to the ancient Yutian kingdom. 14C analysis showed that this cemetery was used from 217 B.C. to 283 A. D. Ancient DNA was analysed by 364 bp of the mitochondrial DNA hypervariable region 1 (mtDNA HVR-1), and by six restriction fragment length polymorphism (RFLP) sites of mtDNA coding region. We successfully extracted and sequenced intact stretches of maternally inherited mtDNA from 13 out of 16 ancient Sampula samples. The analysis of mtDNA haplogroup distribution showed that the ancient Sampula was a complex population with both European and Asian Characteristics. Median joining network of U3 sub-haplogroup and multi-dimensional scaling analysis all showed that the ancient Sampula had maternal relationship with Ossetian and Iranian.
    2007, Bouakaze, et al. First successful assay of Y-SNP typing by SNaPshot minisequencing on ancient DNA

    ABSTRACT In the present study, a set of 13 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) selected for the identification of the most frequent Asian Y-haplogroups was included in an allele-specific primer extension assay. Single nucleotide polymorphism (SNP) genotyping was accomplished by co-amplification of these 13 DNA fragments within 2 multiplex PCRs followed by detection with 1 minisequencing reaction using the SNaPshottrade mark Multiplex kit and analysis of extension products by capillary electrophoresis. First developed on modern samples, the assay was optimized for the analysis of 11 ancient DNA (aDNA) samples from the Krasnoyarsk region (southern Siberia) that were dated from 5,500-1,800 years before present (YBP). SNP typing was successful for most of them, which were all assigned to Y-haplogroup R1a1 except one. These results show that SNPs are well-suited for the analysis of aged and degraded DNA samples. Moreover, we found that the SNaPshot minisequencing methodology is a convenient, robust, and efficient method for SNP typing. To our knowledge, this study reports the first successful investigation of Y-SNPs on aDNA samples. The potential use of Y-SNPs in both evolutionary and forensic fields is also discussed.
    2007, Alzualde, et al. Influences of the European Kingdoms of Late Antiquity on the Basque Country: Paywall

    ABSTRACT The Aldaieta cemetery (6th–7th century AD, Basque Country) provides an excellent opportunity for analysing the relationships between biology and culture. Culturally it presents material features whose origins lie in the Northern Pyrenean Frankish kingdom, while genetically it reveals greater affinity to the present‐day populations of the northern Iberian Peninsula. This raises the question of the degree of influence exerted by the large European kingdoms that emerged after the fall of the Roman Empire over the populations located on the fringes of their expansion. An analysis of the genetic constitution, both patrilineal (Y‐chromosome) and matrilineal (mitochondrial DNA), of the individuals buried in the cemetery, together with demographic and cultural data, points to a stratified or hierarchical society in which certain lineages were linked to family groups of higher social and/or economic status. This higher status, which seems to have been transmitted through family members, may have been attained by individuals who were involved in military activities with the Frankish army. It may be suggested that the major European kingdoms of Late Antiquity had not only a cultural influence but also some influence on the biosocial behaviour of the populations located on their peripheries.
    2007, Töpf, et al. Ancient human mtDNA genotypes from England reveal lost variation over the last millennium

    ABSTRACT We analysed the historical genetic diversity of human populations in Europe at the mtDNA control region for 48 ancient Britons who lived between ca AD 300 and 1000, and compared these with 6320 modern mtDNA genotypes from England and across Europe and the Middle East. We found that the historical sample shows greater genetic diversity than for modern England and other modern populations, indicating the loss of diversity over the last millennium. The pattern of haplotypic diversity was clearly European in the ancient sample, representing each of the modern haplogroups. There was also increased representation of one of the ancient haplotypes in modern populations. We consider these results in the context of possible selection or stochastic processes.
    2006, Fernández, et al. MtDNA analysis of ancient samples from Castellón (Spain): Diachronic variation and genetic relationships: Paywall

    ABSTRACT Thirty-seven bone and teeth samples from Chalcolithic and Iberian ages from several sites located in Castellón (Spain) were analyzed for mtDNA HVRI polymorphisms. Despite of the presence of PCR inhibitors, we recovered 150 bp fragments in nine cases. Lineages suggest a close relationship among individuals from the same archaeological site, due to a possible familiar relationship or to a common ethnic origin. Chalcolithic haplotypes differed from those recovered from Iberian samples. This indicates a possible genetic replacement between both periods in the Spanish Levant.
    2006, Töpf, et al. Tracing the Phylogeography of Human Populations in Britain Based on 4th–11th Century mtDNA Genotypes

    ABSTRACT Some of the transitional periods of Britain during the first millennium A.D. are traditionally associated with the movement of people from continental Europe, composed largely of invading armies (e.g., the Roman, Saxon, and Viking invasions). However, the extent to which these were migrations (as opposed to cultural exchange) remains controversial. We investigated the history of migration by women by amplifying mitochondrial DNA (mtDNA) from ancient Britons who lived between approximately A.D. 300–1,000 and compared these with 3,549 modern mtDNA database genotypes from England, Europe, and the Middle East. The objective was to assess the dynamics of the historical population composition by comparing genotypes in a temporal context. Towards this objective we test and calibrate the use of rho statistics to identify relationships between founder and source populations. We find evidence for shared ancestry between the earliest sites (predating Viking invasions) with modern populations across the north of Europe from Norway to Estonia, possibly reflecting common ancestors dating back to the last glacial epoch. This is in contrast with a late Saxon site in Norwich, where the genetic signature is consistent with more recent immigrations from the south, possibly as part of the Saxon invasions.
    2006, Alzualde, et al. Insights into the "isolation" of the Basques: mtDNA lineages from the historical site of Aldaieta (6th-7th centuries AD)

    ABSTRACT We analyzed the hypervariable region I (HVR-I) sequence variability of the mitochondrial DNA (mtDNA) of individuals buried at Aldaieta (6th-7th centuries AD) in order to find out more about the biosocial implications of this cemetery. The results, fully authenticated by means of diverse criteria (analysis of duplicates, replication in an independent laboratory, quantification of target DNA, and sequencing and cloning of polymerase chain reaction products), suggest that Aldaieta largely consists of autochthonous individuals who shared common funereal customs with the late Ancient North Pyrenean cemeteries of Western Europe (the Reihengräberfelder), a cultural influence possibly accompanied by a certain genetic flow. Furthermore, the distribution of mtDNA lineages in the cemetery highlighted the existence of a significant number of family relationships, supporting the belief that it was a stable settlement and not a group that had haphazardly settled in the area. Finally, this paper stresses the importance of ancient DNA data for reconstructing the biological history of human populations, rendering it possible to verify certain hypotheses based solely on current population data. The presence at Aldaieta of an mtDNA lineage originating in Northwest Africa testifies to the existence of contact between the Iberian Peninsula and Northwest Africa prior to the Moorish occupation. Both this latter discovery and the high frequency of haplogroup J at the Aldaieta cemetery raise questions about the generally accepted belief that, since ancient times, the influence of other human groups has been very scarce in the Basque Country.
    2006, Rollo, et al. Fine characterization of the Iceman's mtDNA haplogroup

    ABSTRACT Starting from specimens of the intestinal contents of the so-called Tyrolean Iceman or Ötzi (5,350-5,100 years before present), it was possible by polymerase chain reaction to amplify fragments of the human mitochondrial DNA (mtDNA) control region that correspond to the sequence found in 1994 at the Munich and Oxford laboratories and which had been attributed to the original DNA of the mummy. The particularly favorable condition of the specimens, showing very low contamination levels, made it easier to extend the analyses to the coding region, which had not previously been considered. The mtDNA of the European population is currently divided into nine (H, T, U, V, W, X, I, J, and K) main groups (haplogroups). The K haplogroup, in particular, is composed of two (K1 and K2) subclusters. The results demonstrate that the Iceman's mtDNA belongs to the K1 subcluster, yet it does not fit any of the three known branches (a, b, and c) into which the K1 subcluster is presently divided. In addition, some other sites, reported to be linked to environmental adaptation or pathologies, were investigated. Am J Phys Anthropol, 2006. © 2006 Wiley-Liss, Inc.
    2005, Hummel, et al. Detection of the CCR5-32 HIV resistance gene in Bronze Age skeletons

    ABSTRACT A mutant allele of the chemokine receptor CCR5 gene (CCR5-32), which confers resistance to HIV-1 infection, is believed to have originated from a single mutation event in historic times, and rapidly expanded in Caucasian populations, owing to an unknown selective advantage. Among other candidates, the plague bacillus Yersinia pestis was implicated as a potential source of strong selective pressure on European populations during medieval times. Here, we report amplifications of the CCR5-32 DNA sequence from up to 2900-year-old skeletal remains from different burial sites in central Germany and southern Italy. Furthermore, the allele frequency of CCR5-32 in victims of the 14th century plague pandemic in Lübeck/northern Germany was not different from a historic control group. Our findings indicate that this mutation was prevalent already among prehistoric Europeans. The results also argue against the possibility of plague representing a major selective force that caused rapid increase in CCR5-32 gene frequencies within these populations.
    2005, Sampietro, et al. The genetics of the pre-Roman Iberian Peninsula: a mtDNA study of ancient Iberians

    ABSTRACT The Iberians developed a surprisingly sophisticated culture in the Mediterranean coast of the Iberian Peninsula from the 6th century BC until their conquest by the Romans in the 2nd century BC. They spoke and wrote a non-Indo-European language that still cannot be understood; their origins and relationships with other non-Indo-European peoples, like the Etruscans, are unclear, since their funerary practices were based on the cremation of bodies, and therefore anthropology has been unable to approach the study of this people. We have retrieved mitochondrial DNA (mtDNA) from a few of the scarce skeletal remains that have been preserved, some of them belonging to ritualistically executed individuals. The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. Phylogeographic analyses show that the haplogroup composition of the ancient Iberians was very similar to that found in modern Iberian Peninsula populations, suggesting a long-term genetic continuity since pre-Roman times. Nonetheless, there is less genetic diversity in the ancient Iberians than is found among modern populations, a fact that could reflect the small population size at the origin of the population sampled, and the heterogenic tribal structure of the Iberian society. Moreover, the Iberians were not especially closely related to the Etruscans, which points to considerable genetic heterogeneity in Pre-Roman Western Europe.
    2005, Rudbeck, et al. mtDNA analysis of human remains from an early Danish Christian cemetery: Paywall

    ABSTRACT One of Denmark's earliest Christian cemeteries is Kongemarken, dating to around AD 1000-1250. A feature of early Scandinavian Christian cemeteries is sex segregation, with females buried on the northern sides and males on the southern sides. However, such separation was never complete; in the few early Christian cemeteries excavated in Scandinavia, there were always a few males placed on the north side, and some females on the south side. At Kongemarken, several males with juxtaposed females were found on the north side of the cemetery. Thus, to evaluate possible kinship relationships, and more general questions of population affinity, we analyzed mitochondrial DNA extracted from nine individuals excavated in two different areas within the cemetery: one male and four females from Area 1, and one male and three females from Area 2. Using stringent laboratory protocols, each individual was unequivocally assigned to a mitochondrial haplogroup. A surprising amount of haplogroup diversity was observed (Area 1: 1 U7 (male), 1 H, 1 I, 1 J, and 1 T2; Area 2: 2 H, 1 I, and 1 T, with one H being male); even the three subjects of haplogroup H were of different subtypes. This indicates that no subjects within each area were maternally related. The observed haplogroup, U7, while common in India and in western Siberian tribes, was not previously observed among present-day ethnic Scandinavians, and haplogroup I is rare (2%) in Scandinavia. These observations suggest that the individuals living in the Roskilde region 1,000 years ago were not all members of a tightly knit local population and comprised individuals with genetic links with populations that were from much farther away. Am J Phys Anthropol, 2005. © 2005 Wiley-Liss, Inc.
    2005, Mooder, et al. Matrilineal affinities and prehistoric Siberian mortuary practices: a case study from Neolithic Lake Baikal: NULL

    ABSTRACT The ‘Lokomotiv’ cemetery in the Lake Baikal region of Siberia is considered to be the largest Neolithic cemetery in North Asia. A large degree of mortuary variability has been documented at Lokomotiv including striking differences in grave architecture, body treatment and grave good assemblages. The purpose of this study is to understand whether observed mortuary variability at Lokomotiv was used to indicate differential biological affinity for those buried in this cemetery. To answer this, we compared the distribution of matrilineally-inherited mitochondrial DNA (mtDNA) markers retrieved from Lokomotiv skeletal remains against various lines of archaeological evidence. Using a combined strategy of coding-region SNP and HVI sequence detection, we were able to produce mtDNA profiles for 31 of 37 Lokomotiv individuals. Our results to date suggest that while matrilineal affinities did not overtly shape the spatial organisation of Lokomotiv, they may have influenced the type of grave one was interred in and in certain cases, the type of mortuary treatment given to an individual. The most compelling differences in matrilineal affinity were found between group grave and single grave burials in one cluster of the cemetery and evoke a notion of intra-community power structure shaped by matrilineally-ascribed group membership. The findings from this study will be further explored with future enhancements to the archaeological and biological datasets for Lokomotiv as well as a contemporaneous Baikal region cemetery known as Shamanka II. In doing so, we hope to further illuminate the social complexities governing these prehistoric Siberian communities.
    2005, Haak, et al. Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites

    ABSTRACT The ancestry of modern Europeans is a subject of debate among geneticists, archaeologists, and anthropologists. A crucial question is the extent to which Europeans are descended from the first European farmers in the Neolithic Age 7500 years ago or from Paleolithic hunter-gatherers who were present in Europe since 40,000 years ago. Here we present an analysis of ancient DNA from early European farmers. We successfully extracted and sequenced intact stretches of maternally inherited mitochondrial DNA (mtDNA) from 24 out of 57 Neolithic skeletons from various locations in Germany, Austria, and Hungary. We found that 25% of the Neolithic farmers had one characteristic mtDNA type and that this type formerly was widespread among Neolithic farmers in Central Europe. Europeans today have a 150-times lower frequency (0.2%) of this mtDNA type, revealing that these first Neolithic farmers did not have a strong genetic influence on modern European female lineages. Our finding lends weight to a proposed Paleolithic ancestry for modern Europeans.
    2005, Alzualde, et al. Temporal mitochondrial DNA variation in the Basque Country: influence of post-neolithic events

    ABSTRACT The Basque population has been considered an outlier in a large number of genetic studies, due to its hypothesized antiquity and greater genetic isolation. The present paper deals with an analysis of the mtDNA variability of the historical population of Aldaieta (VI-VII c. AD; Basque Country) which, together with genetic data existing for other prehistoric populations of the Basque Country (4,500-5,000 YBP), permits an appraisal of the hypotheses proposed for the origin of the genetic differentiation of the Basque population. Given that this is an aDNA study, application has been made both of standard precautions, to avoid contamination, and of authentication criteria (analysis of duplicates, replication in an independent laboratory, quantification of target DNA, sequencing and cloning of PCR products). The variability of the mtDNA haplogroups of the historical population of Aldaieta falls within the range of the present-day populations of Europe's Atlantic fringe, whereas the prehistoric populations of the Basque Country display clear differentiation in relation to all others. Consequently, we suggest that between 5,000-1,500 YBP approximately, there may have been gene flow amongst the western European populations that homogenised mtDNA lineages.
    2005, Fernández, et al. Mitochondrial DNA polymorphisms in ancient populations of the Mediterranean basin: NULL

    ABSTRACT The origins of the European Populations Have Been Studied extensively from Different disciplines. It is Thought That ancient Demic Expansions, Those like occurred After the Late Glacial Maximum During the Neolithic Diffusion or from Middle East to Europe.

    The Possibility to recover DNA from Past Populations Offers Unique Opportunity to test an in situ These hypothesis.

    It Were Analyzed 197 115 teeth and bones from Different Individuals and Archaeological sites from 17 Middle East and the Iberian Peninsula.

    Was it possible to recover mitochondrial DNA sequences 244pb-35 from Different Individuals. They Were Compared to sequences from 38 European, African and present-day Middle Eastern populations.

    Phylogenetic Reconstructions from Reynolds genetic distance Showed That ancient samples clustered together, separated Clearly from extant populations. However, phylogenetic Reconstructions based on ancient and modern haplotypes Showed That ancient mitochondrial haplotypes are related to extant ones.

    Haplogroup and haplotype frequencies in samples from the ancient Middle East and the Iberian Peninsula are Different from Those Clearly Nowadays present in the same Geographical regions.

    Haplogroups related to Neolithic expansion to Europe-J, U3, W and X-are absent in ancient middle eastern sample. There are two possible Explanations to this fact. First, it possible Could Be Analyzed That the ancient samples will not be Representative of the Middle Eastern Populations That expanded the Neolithic. Second, It Could Be That Those haplogroups Also possible will not made to them in Europe Have Been Expansions Associated with Demic to Neolithic.

    At this work it Were Also Examined Several Technical Aspects related to the obtention of genuine ancient DNA and the Influence of Different variables in DNA preservation.
    2005, Chandler, et al. Using ancient DNA to examine genetic continuity at the Mesolithic-Neolithic transition in Portugal

    ABSTRACT Two main mechanisms for the introduction of agriculture at the transition from the Mesolithic to the Neolithic in Portugal have been proposed: indigenous adoption and colonisation. Distinguishing between these mechanisms can be regarded as a question of genetic continuity or discontinuity at the transition. A genetic comparison of late Mesolithic and early Neolithic populations at the transition using ancient DNA is described here. Mitochondrial DNA (mtDNA) was extracted from human remains collected in several Mesolithic sites of the Sado estuary and from Neolithic cave sites. Phylogenetic analysis, based on the mitochondrial hypervariable region 1 (HVSI), and comparison with DNA from modern European populations was performed. The absence of mtDNA haplogroup J in the ancient Portuguese Neolithic sample suggests that this population was not derived directly from Near Eastern farmers. The Mesolithic and Neolithic groups show genetic discontinuity implying colonisation at the Neolithic transition in Portugal.
    2005, Bogácsi-Szabó, et al. Mitochondrial DNA of ancient Cumanians: culturally Asian steppe nomadic immigrants with substantially more western Eurasian mitochondrial DNA lineages: Paywall

    ABSTRACT The Cumanians were originally Asian pastoral nomads who in the 13th century migrated to Hungary. We have examined mitochondrial DNA from members of the earliest Cumanian population in Hungary from two archeologically well-documented excavations and from 74 modern Hungarians from different rural locations in Hungary. Haplogroups were defined based on HVS I sequences and examinations of haplogroup-associated polymorphic sites of the protein coding region and of HVS II. To exclude contamination, some ancient DNA samples were cloned. A database was created from previously published mtDNA HVS I sequences (representing 2,615 individuals from different Asian and European populations) and 74 modem Hungarian sequences from the present study. This database was used to determine the relationships between the ancient Cumanians, modern Hungarians, and Eurasian populations and to estimate the genetic distances between these populations. We attempted to deduce the genetic trace of the migration of Cumanians. This study is the first ancient DNA characterization of an eastern pastoral nomad population that migrated into Europe. The results indicate that, while still possessing a Central Asian steppe culture, the Cumanians received a large admixture of maternal genes from more westerly populations before arriving in Hungary. A similar dilution of genetic, but not cultural, factors may have accompanied the settlement of other Asian nomads in Europe.
    2005, Kefi, et al. Mitochondrial DNA diversity of Taforalt population (12,000 years bp, Morocco) : A genetic study of the settlement of North Africa: NULL

    ABSTRACT Anthropological and genetic studies have revealed the complexity of the peopling of North Africa. In order to contribute to a better understanding of the establishment of populations in the Mediterranean region, we decided to study the mitochondrial diversity of the population Ibero-Maurusian Taforalt (12,000 years - Morocco). The ancient DNA was extracted from thirty specimens excavated from the cave paleolithical Taforalt. We amplified and sequenced the fragment HVS1 the control region of mitochondrial DNA. Genetic diversity of the population Taforalt shows that individuals are not related to sub-Saharan individuals. The hypothesis of an origin sub-Sudanese men Ibero-Maurusian is rejected. Our results are consistent with a local origin of the population Taforalt and genetic continuity in North Africa
    2004, Lalueza-Fox, et al. Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians

    ABSTRACT This study helps to clarify the debate on the Western and Eastern genetic influences in Central Asia. Thirty-six skeletal remains from Kazakhstan (Central Asia), excavated from different sites dating between the fifteenth century BC to the fifth century AD, have been analysed for the hypervariable control region (HVR-I) and haplogroup diagnostic single nucleotide polymorphisms (SNPs) of the mitochondrial DNA genome. Standard authentication criteria for ancient DNA studies, including multiple extractions, cloning of PCR products and independent replication, have been followed. The distribution of east and west Eurasian lineages through time in the region is concordant with the available archaeological information: prior to the thirteenth-seventh century BC, all Kazakh samples belong to European lineages; while later an arrival of east Eurasian sequences that coexisted with the previous west Eurasian genetic substratum can be detected. The presence of an ancient genetic substratum of European origin in West Asia may be related to the discovery of ancient mummies with European features in Xinjiang and to the existence of an extinct Indo-European language, Tocharian. This study demonstrates the usefulness of the ancient DNA in unravelling complex patterns of past human migrations so as to help decipher the origin of present-day admixed populations.
    2004, Kulikov, et al. Molecular Genetic Characteristics of Medieval Populations of the Russian North

    ABSTRACT Forty-seven individual mitochondrial DNA (mtDNA) samples isolated from bones samples found in the Nefedyevo, Minino, and Shuygino gravesites have been analyzed to perform molecular genetic study of the medieval (12th to 13th centuries AD) human population from the vicinity of Lake Beloe (Vologda oblast, northern Russia). The mitotypic structure of the population has been determined on the basis of sequencing the mtDNA hypervariable-region segment I (HVSI; positions 15 989–16 410). Three mitotypes characterizing the population studied have been found in the 47 representatives of the medieval population: mitotype 1 corresponding to the Cambridge reference sequence, mitotype 2 (transition G–A at position 16 129), and mitotype 3 (transitions G–A and C–T at loci 16129 and 16223, respectively). Mitotypes 1, 2, and 3 have been found in 91.6, 4.2, and 4.2% of the individual samples studied. This high frequency of the Cambridge mitotype is considerably higher than its mean frequencies in European populations. The frequencies of other mitotypes found correspond to their mean European values. The absence of a Mongoloid component has been demonstrated for the female lineage of the population. Comparison of the molecular genetic characteristics of contemporary European ethnic groups and the population studied has demonstrated that it may be assigned to the European population group. The high homogeneity of the mitochondrial pool suggests a strong founder effect, which agrees with the view of archeologists and anthropologists that the first migrant settlers were very few.
    2004, Vernesi, et al. The Etruscans: A Population-Genetic Study

    ABSTRACT The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans’ evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences in multiple clones derived from bone samples of 80 Etruscans who lived between the 7th and the 3rd centuries b.c. In the first phase of the study, we eliminated all specimens for which any of nine tests for validation of ancient DNA data raised the suspicion that either degradation or contamination by modern DNA might have occurred. On the basis of data from the remaining 30 individuals, the Etruscans appeared as genetically variable as modern populations. No significant heterogeneity emerged among archaeological sites or time periods, suggesting that different Etruscan communities shared not only a culture but also a mitochondrial gene pool. Genetic distances and sequence comparisons show closer evolutionary relationships with the eastern Mediterranean shores for the Etruscans than for modern Italian populations. All mitochondrial lineages observed among the Etruscans appear typically European or West Asian, but only a few haplotypes were found to have an exact match in a modern mitochondrial database, raising new questions about the Etruscans’ fate after their assimilation into the Roman state.
    2004, Ricaut, et al. Genetic analysis of a Scytho-Siberian skeleton and its implications for ancient Central Asian migrations: Paywall

    ABSTRACT The excavation of a frozen grave on the Kizil site (dated to be 2500 years old) in the Altai Republic (Central Asia) revealed a skeleton belonging to the Scytho-Siberian population. DNA was extracted from a bone sample and analyzed by autosomal STRs (short tandem repeats) and by sequencing the hypervariable region I (HV1) of the mitochondrial DNA. The resulting STR profile, mitochondrial haplotype, and haplogroup were compared with data from modern Eurasian and northern native American populations and were found only in European populations historically influenced by ancient nomadic tribes of Central Asia.
    2004, Ricaut, et al. Genetic Analysis of Human Remains found in 2 18th Century Yakut Graves at Al-Dabaan

    ABSTRACT We extracted DNA from three skeletons belonging to the Yakut population, which were excavated from the At-Dabaan site (dating back 300 years) in the Sakha Republic (Russia). Ancient DNA was analyzed by autosomal STRs (short tandem repeats) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these three skeletons were not close relatives but probably linked to the same clan structure. Comparison of their haplotypes with the haplotypes of 8,774 Eurasian individuals suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last 3 centuries.
    2004, Ricaut, et al. Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons: Paywall

    ABSTRACT We extracted DNA from two skeletons belonging to the Sytho-Siberian population, which were excavated from the Seb˙stei site (dating back 2,500 years) in the Altai Republic (Central Asia). Ancient DNA was analyzed by autosomal short tandem repeats (STRs) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these two skeletons were not close relatives. Moreover, their haplogroups were characteristic of Asian populations. Comparison with the haplogroup of 3,523 Asian and American individuals linked one skeleton with a putative ancestral paleo-Asiatic population and the other with Chinese populations. It appears that the genetic study of ancient populations of Central Asia brings important elements to the understanding of human population movements in Asia. Copyright 2003 Wiley-Liss, Inc.
    2003, Carmelli, et al. Evidence for a genetic discontinuity between Neandertals and 24,000-year-old anatomically modern Europeans

    ABSTRACT During the late Pleistocene, early anatomically modern humans coexisted in Europe with the anatomically archaic Neandertals for some thousand years. Under the recent variants of the multiregional model of human evolution, modern and archaic forms were different but related populations within a single evolving species, and both have contributed to the gene pool of current humans. Conversely, the Out-of-Africa model considers the transition between Neandertals and anatomically modern humans as the result of a demographic replacement, and hence it predicts a genetic discontinuity between them. Following the most stringent current standards for validation of ancient DNA sequences, we typed the mtDNA hypervariable region I of two anatomically modern Homo sapiens sapiens individuals of the Cro-Magnon type dated at about 23 and 25 thousand years ago. Here we show that the mtDNAs of these individuals fall well within the range of variation of today's humans, but differ sharply from the available sequences of the chronologically closer Neandertals. This discontinuity is difficult to reconcile with the hypothesis that both Neandertals and early anatomically modern humans contributed to the current European gene pool.
    2002, Clisson, et al. Genetic analysis of human remains from a double inhumation in a frozen kurgan in Kazakhstan (Berel site, Early 3rd Century BC)

    ABSTRACT The discovery of a big barrow of the Saka period in eastern Kazakhstan between the Russian and the Chinese borders provided the opportunity to excavate a frozen burial site. In the burial chamber, there was a wooden sarcophagus with two human bodies. The skeletons of these two individuals, a man and a woman, were well preserved. A genetic study based on STRs and mitochondrial DNA analyses was undertaken in order to determine whether these human remains belonged to close relatives. Results were obtained for all the markers. Nevertheless, nuclear STRs did not allow a clear conclusion concerning the relationship, but analysis of mitochondrial DNA showed that these skeletons were not close relatives.
    2001, Vernesi, et al. Genetic characterization of the body attributed to the evangelist Luke

    ABSTRACT Historical sources indicate that the evangelist Luke was born in Syria, died in Greece, and then his body was transferred to Constantinople, and from there to Padua, Italy. To understand whether there is any biological evidence supporting a Syrian origin of the Padua body traditionally attributed to Luke, or a replacement in Greece or Turkey, the mtDNA was extracted from two teeth and its control region was cloned and typed. The sequence determined in multiple clones is an uncommon variant of a set of alleles that are common in the Mediterranean region. We also collected and typed modern samples from Syria and Greece. By comparison with these population samples, and with samples from Anatolia that were already available in the literature, we could reject the hypothesis that the body belonged to a Greek, rather than a Syrian, individual. However, the probability of an origin in the area of modern Turkey was only insignificantly lower than the probability of a Syrian origin. The genetic evidence is therefore compatible with the possibility that the body comes from Syria, but also with its replacement in Constantinople.

    According to historical sources, the evangelist Luke was born in Antioch, in the Roman province of Syria, and died in Thebes (Greece) at age 84, around anno Domini (A.D.) 150 (1). His body was initially buried in Thebes, but then it was transferred to Constantinople in the second year of the reign of emperor Constantius (A.D. 338) and eventually to Padua, Italy, at an unspecified time before 1177, possibly under the reign of Julian the Apostate (361), or during the iconoclast controversy (726–846; Fig. 1; ref. 2). The availability of samples from the Padua body (PB) for DNA typing provides an opportunity to test the degree to which molecular biology could confirm history by assigning the remains of a single individual to a geographic region of origin.

    The marble sarcophagus containing the body traditionally attributed to Luke was opened September 17, 1998, by a committee headed by V.T.W.M. It contained a leaden coffin, whose size fits into the tomb considered to be Luke's, in Thebes. Inside, along with various objects (including two plates with the dates 1463 and 1562, when the coffin was last opened), was the skeleton of a male individual. Evident signs of osteoporosis and skeletal deformations showed that that individual had died at age 70 or more. The pelvis had fused with the coffin. Complementary marks of larvae of the saprophage Diptera, on the pelvis and on the lead, suggest that the body decomposed in that coffin.
    2000, Di Benedetto, et al. Mitochondrial DNA sequences in prehistoric human remains from the Alps

    ABSTRACT The spread of agriculture that started in the Near East about 10 000 years ago caused a dramatic change in the European archaeological record. It is still unclear if that change was caused mostly by movement of people or by cultural transformations. In particular, there is disagreement on what proportion of the current European gene pool is derived either from the pre-agricultural, paleolithic and mesolithic people, or from neolithic farmers immigrating from the south-east. To begin to characterise the mtDNA gene pool of prehistoric Europe we examined five human remains from the Eastern Italian Alps, dated between 14 000 and 3000 years ago. Three of them yielded sufficient amount of mtDNA for analysis. DNA extracts were prepared in two independent laboratories, and PCR products from the first hypervariable segment of the mtDNA control region were cloned and sequenced. Together with the 5200 year old 'ice man', these DNA sequences show that European mtDNA diversity was already high at the beginning of the neolithic period. All the neolithic sequences have been observed in contemporary Europeans, suggesting genealogical continuity between the neolithic and present-day European mtDNA gene pool. The mtDNA sequence from a 14 000 year-old specimen was not observed in any contemporary Europeans, raising the possibility of a lack of continuity between the mesolithic and present-day European gene pools
    1999, Izagirre and de la Rúa An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe

    ABSTRACT mtDNA sequence variation was studied in 121 dental samples from four Basque prehistoric sites, by high-resolution RFLP analysis. The results of this study are corroborated by (1) parallel analysis of 92 bone samples, (2) the use of controls during extraction and amplification, and (3) typing by both positive and negative restriction of the linked sites that characterize each haplogroup. The absence of haplogroup V in the prehistoric samples analyzed conflicts with the hypothesis proposed by Torroni et al., in which haplogroup V is considered as an mtDNA marker for a major Paleolithic population expansion from southwestern Europe, occurring approximately 10,000-15,000 years before the present (YBP). Our samples from the Basque Country provide a valuable tool for checking the previous hypothesis, which is based on genetic data from present-day populations. In light of the available data, the most realistic scenario to explain the origin and distribution of haplogroup V suggests that the mutation defining that haplogroup (4577 NlaIII) appeared at a time when the effective population size was small enough to allow genetic drift to act-and that such drift is responsible for the heterogeneity observed in Basques, with regard to the frequency of haplogroup V (0%-20%). This is compatible with the attributed date for the origin of that mutation (10,000-15, 000 YBP), because during the postglacial period (the Mesolithic, approximately 11,000 YBP) there was a major demographic change in the Basque Country, which minimized the effect of genetic drift. This interpretation does not rely on migratory movements to explain the distribution of haplogroup V in present-day Indo-European populations.
    yDNA: R1a1a1
    mtDNA: H4a1
    Ancestry Painting: 100% European
    23andme Global Similarity: Dead center of English Cluster

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