Even though the analysis of DNA from archaeological bone comes with some major limitations, it constitutes the most directmeans of investigating prehistoric population dynamics. The interdisciplinary contextualization of genetic data with the archaeological and palaeoecological record helps to reconstruct past population histories and the demography of ancient populations. For South America, palaeogenetic studies have become increasingly important. Here we review the existing ancient DNA data from pre-Columbian individuals to assess their potential to contribute to our understanding of early South American population history. The spatial and temporal distribution of ancient South American populations analysed to date is very uneven and the data resolution of the analysed genetic markers is low. Nevertheless, the data suggest that there were population dynamic processes accompanying cultural development in Western South America. With the new methodologies and better sampling strategies employed in current paleogenetic projects and more effective interdisciplinary cooperations it will be soon possible to achieve a better understanding of the peopling of the continent and the succeeding population history. / Aún cuando el análisis de ADN de huesos arqueológicos tiene algunas grandes limitaciones, constituye la manera más directa de investigar eventos prehistóricos de dinámica poblacional. La contextualización interdisciplinaria de los datos genéticos con los registros arqueológico y paleoecológico permite reconstruir las historias poblacionales pasadas y la demografía de sociedades antiguas. Por otro lado, el número de estudios paleogenéticos en Sudamérica se está incrementando. En este artículo revisamos los datos de ADN antiguo de individuos prehispánicos que existen en la actualidad con la finalidad de evaluar su potencial para contribuir a nuestro entendimiento de la historia temprana del poblamiento de Sudamérica. La distribución espacial y temporal de las poblaciones sudamericanas antiguas muestreadas a la fecha es muy irregular y la resolución de los marcadores genéticos analizados esbaja. Sin embargo, los datos sugieren que existieron procesos de dinámica poblacional que acompañaron el desarrollo cultural de la parte oeste de Sudamérica. Con las nuevas metodologías y mejores estrategias de muestreo que se emplean hoy en día en los proyectos de paleogenética, y con una cooperación interdisciplinaria más efectiva, pronto será posible lograr un mejor entendimiento del poblamiento del continente, así como de los hechos sucesivos de su historia poblacional.

The aim of this diploma thesis was the initial genetic analysis of early mediaeval burial site from Mlekojedy polycultural locality (Litoměřice District, Czech Republic). Autosomal STR markers were chosen because of the following reasons. The high degree of polymorphism of these markers and the high extent of heterozygosity favor the use of STRs instead of mitochondrial DNA for the structural analysis of small populations. Usefulness of STR typing for validation purposes was demonstrated many times before. We used primers for miniSTRs to obtain the fullest results. Nuclear DNA was extracted from 35 % of bone samples and 91 % of teeth. We detected lower PCR amplification success rate of fragments longer than 150 bp and very high rate of allele drop-out which is sign of degraded DNA. Twelve reliable genotypes were determined for TH01 marker. Observed allele frequency and genetic diversity values were discussed in comparison with recent populations and other aDNA studies of burial sites. Keywords: ancient DNA, STR markers, miniSTR, early medieval burial site, Czech population

The aim of this thesis is to investigate how discussions in archaeology and genetics influence the consensus on human origins and migrations in the South Pacific. By analyzing the genetic research on chicken- and sweet potato-DNA, I present a general overview of how genetics and archaeology shape the understanding of how humans have colonized the Pacific. By deconstructing a review on how the Pacific was settled based on aDNA, I analyze a geneticist’s perspective on archaeological problems. Through this analysis I suggest how archaeology should be approached on a theoretical level in order to be relevant in understanding human migrations in the Pacific. I propose that archaeology’s strength lie in interpreting material culture through an agency perspective in order to reach a dimension not obtainable by biological perspectives / Syftet med denna uppsats är att undersöka hur diskussioner i arkeologi och genetik påverkar hur vi ser på mänskliga migrationer i Oceanien. Genom att analysera den genetiska forskning som gjorts på kyckling och sötpotatis ges en övergripande bild av hur genetik och arkeologi formar den förståelse som finns för hur människan koloniserat Söderhavet. Genom att dekonstruera en sammanställning av den genetiska forskning som gjorts på mänskligt DNA i Oceanien analyseras en genetikers synsätt på arkeologiska problemställningar. Genom analysen i denna uppsats föreslår jag hur arkeologi borde arbeta på ett teoretiskt plan för att vara relevant i hur vi förstår Oceaniens migrationsmönster. Jag föreslår att arkeologins styrka ligger i att tolka den materiella kulturen genom ett agency-perspektiv för att komma åt en dimension av migrationsproblematiken som inte går att nås genom biologiska perspektiv.

No description available.

The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. Mitochondrial DNA is also maternally inherited and thus provides a direct link to maternal relatives. These two properties are of particular use for forensic samples, which only contain limited or degraded amounts of DNA, and for historical samples (ancient DNA). This thesis presents work on the mitochondrial DNA in the hypervariable regions (HV) I and II, in both contemporary and historical samples. Forensic genetics makes use of mitochondrial DNA analysis in court as circumstantial evidence, and population databases are used for the calculation of evidence value. Population samples (299) across Sweden have been analysed in order to enrich the EDNAP mtDNA database (EMPOP) (paper I). The application of mitochondrial DNA analysis allowed for analysis of historical skeletal remains: Copernicus, 1473-1543 (paper II), Karin Göring, 1888-1931 (paper III) and Medieval bones, 880-1000 AD, from a mass grave found in Sigtuna, Sweden (paper IV). The thesis also includes analyses of bones and teeth from the shipwrecked crew of the Vasa warship, 1628, samples from the Vasa museum, Stockholm, Sweden (paper V). Overall, the varying age of the samples and the different conservation environments (soil and water) accounted for variations in quality, but still allowed for successful DNA analysis.

Cette thèse a premièrement permis le développement d’une méthode de détection non-enzymatique de l’ADN. Les techniques enzymatiques couramment utilisées, comme la Polymerase Chain Reaction (PCR), échouent souvent dans l’analyse d’échantillons anciens ou transformés. L’ADN subit en effet de nombreuses dégradations post mortem, parmi lesquelles certaines bloquent les enzymes ADN-polymérases. Notre méthode combine hybridation et détection par SERRS (Surface Enhanced Resonant Raman Scattering), permettant la détection et la quantification de séquences d’ADN dégradées réfractaires à l’analyse par PCR. De nouvelles perspectives s’ouvrent donc en paléogénétique. Cette thèse aborde également le rôle des surfaces minérales dans l’origine des acides nucléiques. Les surfaces minérales pourraient avoir piégé et concentré les briques élémentaires de ces biopolymères, contribuant ainsi à leur construction. Les travaux existants se sont concentrés sur des minéraux comme la montmorillonite, qui n’était cependant pas abondante à l’Hadéen/Archéeen. La minéralogie de la Terre primitive aurait plutôt été dominée par les phyllosilicates ferromagnésiens. Nous avons étudié l’adsorption de nucléotides sur des minéraux plus cohérents avec le contexte géologique, en variant les paramètres environnementaux. Ce travail permet de préciser le mécanisme d’adsorption des nucléotides sur les surfaces minérales, ainsi que les conditions de l’origine du matériel génétique. / The first goal of this thesis was the development of a non-enzymatic DNA detection method. Current enzymatic techniques such as Polymerase Chain Reaction (PCR) often fail in analyzing ancient or processed samples. Indeed DNA undergoes numerous post-mortem degradations, among which some are known to block the bypass of DNA-polymerases. Our method combines hybridization and SERRS (Surface Enhanced Resonant Raman Scattering) spectroscopy, and allows the detection and quantification of degraded DNA sequences that are refractory to PCR analysis. This novel detection method therefore opens new perspectives, especially in paleogenetics. This thesis also aims at studying the role of mineral surfaces in the origin of nucleic acids. Mineral surfaces might have trapped and concentrated the elementary bricks of those biopolymers, thus contributing in their formation. Previous work has focused on minerals such as montmorillonite, although it might not have been abundant during the Hadean/Archean. The primitive Earth’s mineralogy would have been preferentially dominated by Fe-Mg rich phyllosilicates. We have therefore studied the adsorption of nucleotides on minerals we think are relevant to the geological context, and have varied the environmental conditions. This work allows characterizing the adsorption mechanism of nucleotides on mineral surfaces, as well as environmental conditions of the origin of genetic material.

La Paléogénétique a pour but l’analyse de l’ADN de pièces archéologiques, et le renouveau de cette discipline tend à intégrer une dimension génomique par le séquençage massif des spécimens les mieux préservés. Les grottes, dont la température reste fraîche et constante, permettent la conservation de l’ADN. Nous avons analysé des échantillons du Pléistocène conservés dans des grottes, dont un site archéologique majeur, la Grotte Chauvet. L’étude a porté sur deux espèces, l’ours des cavernes, Ursus spelaeus et l’hyène des cavernes, Crocuta crocuta spelaea.À partir d’un échantillon particulièrement bien conservé de la Grotte Chauvet, nous avons séquencé le génome mitochondrial de l’ours des cavernes et établi la phylogénie de cette espèce éteinte. Nous avons montré que l’ours des cavernes est une espèce proche des ours bruns et polaires dont elle s’est séparée il y a 1,6 million d’années. Nous avons ensuite analysé la région de contrôle mitochondrial de plusieurs spécimens des Grottes Chauvet et des Deux-Ouvertures datés de 28 000 à 32 000 ans. La forte homogénéité génétique de cette population ardéchoise pourrait être corrélée à la disparition régionale de l’espèce.Enfin, nous avons réalisé l’analyse génomique de coprolithes d’hyène des cavernes. Nous avons mis en évidence des quantités importantes d’ADN nucléaire et mitochondrial dans les coprolithes et reconstitué le premier génome mitochondrial complet d’hyène des cavernes. La présence d’ADN de cerf élaphe, Cervus elaphus, nous permet de décrire une relation proie-prédateur du Pléistocène. / Palaeogenetics aims at analysing DNA from archaeological remains. New genetic sequencing technologies revitalize the discipline through genomic analysis. Because of cool and constant temperature, cave sites allow the preservation of ancient DNA. We carried out DNA analysis of Pleistocene specimens originating from cave sites, especially the Chauvet cave. We studied samples from two extinct species, the cave bear, Ursus spelaeus, and the cave hyena, Crocuta crocuta spelaea.Using a well-preserved sample from Chauvet cave, we characterized the 16,810 bp-long mitochondrial genome of the extinct cave bear, and established its phylogeny. We were able to ascertain that the cave bear is a sister-species to the brown and polar bears, and that the two lineages split about 1.6 million years ago. We also sequenced mitochondrial control region fragments of Chauvet and Deux-Ouvertures cave bear samples. These Ardèche bear specimens, dated back to 28,000-32,000 years BP, display strong genetic homogeneity that may be related to the imminent species extinction.Finally, we analysed cave hyena coprolites from the Coumère Cave by metagenomic DNA sequencing. As these fossilized feces still contain a high amount of mitochondrial and nuclear DNA, we were able to decipher the first complete mitochondrial genome for the cave hyena. We found DNA from the red deer, Cervus elaphus, thus depicting a Pleistocene predator-prey relationship.

There are a variety of archaeological questions, which are difficult to assess by traditional archaeological methods. Similarly, there are genetic and population genetic questions about human evolution and migration that are difficult to assess by studying modern day genetic variation. Archaeological genetics can directly study the archaeological remains, allowing human history to be explored by means of genetics, and genetics to be expanded into historical and pre-historical times. Examples of archaeological questions that can be resolved by genetics are determining biological sex on archaeological remains and exploring the kinship or groups buried in close proximity. Another example is one of the most important events in human prehistory – the transition from a hunter-gatherer lifestyle to farming - was driven through the diffusion of ideas or with migrating farmers. Molecular genetics has the potential to contribute in answering all these questions as well as others of similar nature. However, it is essential that the pitfalls of ancient DNA, namely fragmentation, damage and contamination are handled during data collection and data analysis. Analyses of ancient DNA presented in this thesis are based on both mitochondrial DNA and nuclear DNA through the study of single nuclear polymorphisms (SNPs). I used pyrosequencing assays in order to identify the biological sex of archaeological remains as well as verifying if fragmented remains were human or from animal sources. I used a clonal assay approach in order to retrieve sequences for the HVRI of a small family-like burial constellation from the Viking age. By the use of low coverage shotgun sequencing I retrieved sequence data from 13 crew members from the 17th century Swedish man-of-war Kronan. This data was used to determine the ancestry of the crew, which in some cases was speculated to be of non-Scandinavian or non-European origin. However, I demonstrate that all individuals were of European ancestry. Finally, I retrieved sequence data from a Neolithic farmer from the Iberian Peninsula, which added one more facet of information in exploring the Neolithization process of Europe. The Neolithic Iberian individual was genetically similar to Scandinavian Neolithic farmers, indicating that the genetic variation of prehistoric Europe correlated with subsistence mode rather than with geography.

No description available.

<p>This dissertation discusses molecular analyses of dental and skeletal material from victims of the Black Death with the goal of both identifying and describing the evolutionary history of the causative agent of the pandemic. Through this work, <em>Yersinia pestis</em> DNA was successfully identified in skeletal material from a well-documented Black Death burial ground, the East Smithfield cemetery of London, England (1348 -1350). The thesis presents two major methodological advancements in the field of ancient pathogen research: 1) it describes a protocol to confirm the authenticity of ancient pathogen DNA, thus circumventing tenuous issues relating to modern contaminants, and 2) it demonstrates the applicability of DNA capture methods to isolate ancient pathogen DNA from its complex metagenomic background common to ancient DNA extracts. The dissertation is comprised of three publications. The first, submitted to the journal BMC Systems Biology, describes a computational software program for oligo design that has applications to PCR, and capture techniques such as primer extension capture (PEC) and array-based capture. The second manuscript, published in the Proceedings of the National Academy of Sciences, presents a novel capture technique for retrieval of the <em>pestis</em>-specific pPCP (9.6kb) plasmid which can be used as a simple screening tool for the presence of <em>Y. pestis</em> DNA in ancient remains, and describes a method for authenticating ancient pathogen DNA. The third paper, published in the journal Nature, presents a draft genome of <em>Yersinia pestis </em>isolated from the individuals of the East Smithfield collection, thus presenting the first ancient pathogen genome in published literature. Evolutionary changes as they relate to phylogenetic placement and the evolution of virulence are discussed within an anthropological framework.</p> / Doctor of Philosophy (PhD)