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, Csányi, et al. Analysis of Paternal Genetic Relationship of Ancient, Modern Hungarian and Modern Szekler Populations
ABSTRACT NULL2009, 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.
Reply With Quote
Bookmarks