The Science of Genealogy by genetics (original) (raw)
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Summary: The Science of Genealogy by Genetics
Developing World Bioethics, 2003
This summary lays out the basic science and methodology used in genetic testing that investigates historical population migrations and the ancestry of living individuals. The genetic markers used in this testing, and the distinction between Y-chromosome, mitochrondial and autosomes analysis, are explained and the shortcomings of these methodologies are explored.
Genetics, archaeology and culture
Mediterranean Archaeology and Archaeometry, 14(1), 297-315. ISSN 1108-9628 (Print), 2241-8121 (Online), 2014
This article explores historical and contemporary approaches to the use of genetic and archaeological evidence in the interpretation of European Prehistory. It begins by reviewing the early work of anthropologists, which was ambitious in scientific scope and effort, but doomed in interpretation by the framework of colonial expansion and racial hierarchy within which it arose. It briefly considers the emergence of serology and genetic studies, and the gradual displacement of the racial paradigm following the Second World War. The Neolithic transition and the genetics of populations in Europe model of Ammerman and Cavalli-Sforza is used to generate a fuller discussion of the dimensions involved in combining archaeological and genetic evidence, and alternative mechanisms are explored. The potential for ancient DNA to contribute to this and other debates is raised, and the prospects offered by more recent scientific developments in human genetics are considered. Genetic studies-modern and ancient-have become established as having the potential to support archaeological investigations with considerable breadth and time-depth. The paper aims to offer a nuanced consideration of a number of issues arising from this discussion and concludes that genes, environment, language and archaeology are individually and together legitimate and pressing subjects of enquiry for the scholar of the past.
An international conference bringing together geneticists, historians and archaeologists for an open exchange about the possibilities, limitations and risks of the emerging new discipline "Genetic History" (the use of DNA as a historical source). Convened by Joerg Feuchter and Stefanie Samida (Archaeology/Public History, Potsdam) and funded by Fritz Thyssen Foundation. For more information please click on the link to the program or go to the conference website (www.genetic-history.com)
Human genetics, 2001
Genetic isolates represent exceptional resources for the mapping of complex traits but not all isolates are similar. We have selected a genetic and cultural isolate, the village of Talana from an isolated area of Sardinia, and propose that this population is suitable for the mapping of complex traits. A wealth of historical and archive data allowed the reconstruction of the demographic and genealogical history of the village. Key features of the population, which has grown slowly with no significant immigration, were defined by using a combination of historical, demographic and genetic studies. The genealogy of each Talana inhabitant was reconstructed and the main maternal and paternal lineages of the village were defined. Haplotype and phylogenetic analyses of the Y chromosome and characterisation of mitochondrial DNA haplogroups were used to determine the number of ancestral village founders. The extent of linkage disequilibrium (LD) was evaluated by the analysis of several microsatellites in chromosomal region Xq13.3, which was previously used to asses the extension of LD. Genealogical reconstructions were confirmed and reinforced by the genetic analyses, since some lineages were found to have merged prior to the beginning of the archival records, suggesting an even smaller number of founders than initially predicted. About 80% of the present-day population appears to derive from eight paternal and eleven maternal ancestral lineages. LD was found to span, on average, a 5-Mb region in Xq13.3. This suggests the possibility of identifying identical-by-descent regions associated with complex traits in a genome-wide search by using a lowdensity marker map. The present study emphasises the importance of combining genetic studies with genealogical and historical information.
Gene-flows and social processes: the potential of genetics and archaeology
Scales and units of analysis Over the past forty years, a fascinating dialogue has been developing between archaeology and gene-tics, specifically in relation to the question of the dispersal of domesticated plants and animals into Europe and its relationship with the movements of human populations. This debate has often been mar-ked by a degree of mutual confusion, owing largely to the different temporal and spatial scales at which the two disciplines operate, and the different ques-tions that they address (Brown and Pluciennik 2001. 101). While genetics generally concerns itself with the global or continental scale, archaeology is often more focused on the regional and the local, with the result that phenomena that are described at differ-ent levels of magnitude may appear to contradict each other. Some common ground is now beginning to emerge, but from an archaeological point of view it is especially interesting to ask whether the fine-grained patterns that we think we can discer...
Traces of Forgotten Historical Events in Mountain Communities in Central Italy: A Genetic Insight
Objectives: Analysis of human genetic variation in mountain communities can shed light on the peopling of mountainous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstructing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy. Methods: The communities were selected for their geographic isolation, attested biodemographic stability, and documented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable segments (HVS-I and HVS-II) of the mtDNA D-loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y-chromosome SNPs in 237 male individuals. Results: For both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool. Conclusions: The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwithstanding this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe-wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence. Am.
Heredity, 2014
Social and cultural factors had a critical role in determining the genetic structure of Europe. Therefore, socially stratified populations may help to focus on specific episodes of European demographic history. In this study, we use uniparental markers to analyse the genetic structure of Partecipanza in San Giovanni in Persiceto (Northern Italy), a peculiar institution whose origins date back to the Middle Ages and whose members form the patrilineal descent of a group of founder families. From a maternal point of view (mtDNA), Partecipanza is genetically homogeneous with the rest of the population. However, we observed a significant differentiation for Y-chromosomes. In addition, by comparing 17 Y-STR profiles with deep-rooted paternal pedigrees, we estimated a Y-STR mutation rate equal to 3.90 * 10 À3 mutations per STR per generation and an average generation duration time of 33.38 years. When we used these values for tentative dating, we estimated 1300-600 years ago for the origins of the Partecipanza. These results, together with a peculiar Y-chromosomal composition and historical evidence, suggest that Germanic populations (Lombards in particular) settled in the area during the Migration Period (400-800 AD, approximately) and may have had an important role in the foundation of this community.
Special Issue: Human Genetics The genetic history of Europeans
The evolutionary history of modern humans is characterized by numerous migrations driven by environmental change, population pressures, and cultural innovations. In Europe, the events most widely considered to have had a major impact on patterns of genetic diversity are the initial colonization of the continent by anatomically modern humans (AMH), the last glacial maximum, and the Neolithic transition. For some decades it was assumed that the geographical structuring of genetic diversity within Europe was mainly the result of gene flow during and soon after the Neolithic transition, but recent advances in next-generation sequencing (NGS) technologies, computer simulation modeling, and ancient DNA (aDNA) analyses are challenging this simplistic view. Here we review the current knowledge on the evolutionary history of humans in Europe based on archaeological and genetic data.
In recent years, molecular genetics has opened up an entirely new approach to human history. DNA evidence is now being used not only in studies of early human evolution (molecular anthropology), but is increasingly helping to solve the puzzles of history. This emergent research field has become known as »genetic history«. The paper gives an overview on this new field of research. The aim is both to discuss in what ways the ascendant discipline of genetic history is relevant, and to pinpoint both the potentials and the pitfalls of the field. At the same time, we would like to raise the profile of the field within the humanities and cultural studies. We hope that the opportunity for communication between representatives of different disciplines will contribute to loosening up the widespread monodisciplinary method of working and, in particular, bring together the relevant scientific and cultural streams of research.