0000000001321322
AUTHOR
David Caramelli
Paleogenetic and morphometric analysis of a Mesolithic individual from Grotta d'Oriente: An oldest genetic legacy for the first modern humans in Sicily
Abstract Grotta d’Oriente, a coastal cave located on the island of Favignana (Sicily, Italy) is a key site for the study of the early human colonization of Sicily. Inside the cave, during different field excavations, three burials attributable to the Late Upper Palaeolithic and Mesolithic were found. The Mesolithic Oriente B individual, directly dated at 9,377 ± 25 uncal BP, was previously assigned to HV1 haplogroup using a traditional approach. However, it is well known that PCR based methods are prone to erroneous haplotype or haplogroup determination. In order to redefine the mitochondrial lineage of this Mesolithic hunter-gatherer and explore its phylogenetic position, we target-enriche…
Paleogenetic analysis and radiocarbon dating on skeletal remains from the Roman necropolis of Contrada Diana (Lipari Island, Sicily)
Lipari, the largest of the Aeolian Islands, is located in the southern Tyrrhenian Sea. Archeological evidence suggests an early human occupation starting from the Neolithic period. The island, favored by its volcanic history, was an important crossroads of cultures and commerce exchanges during prehistory up to Greek and Roman dominations. In this study, we present multidisciplinary analysis results on four skeletal remains from the necropolis of Contrada Diana attributed to the Roman period. By using Next Generation Sequencing technology we identified the biological sex and reconstructed the complete mitochondrial genome for two individuals. We retrieved the first ancient L3e5a lineage tha…
The Arrival of Steppe and Iranian Related Ancestry in the Islands of the Western Mediterranean
A series of studies have documented how Steppe pastoralist-related ancestry reached central Europe by at least 2500 BCE, while Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 BCE. However, the spread of these ancestries into the western Mediterranean where they have contributed to many populations living today remains poorly understood. We generated genome-wide ancient DNA from the Balearic Islands, Sicily, and Sardinia, increasing the number of individuals with reported data from these islands from 3 to 52. We obtained data from the oldest skeleton excavated from the Balearic islands (dating to ∼2400 BCE), and show that this individual had substantial Steppe p…
The beaker phenomenon and the Genomic transformations of Northwest Europe
Bell Beaker pottery spread across western and central Europe beginning around 2750 BCE before disappearing between 2200–1800 BCE. The mechanism of its expansion is a topic of long-standing debate, with support for both cultural diffusion and human migration. We present new genome-wide ancient DNA data from 170 Neolithic, Copper Age and Bronze Age Europeans, including 100 Beaker-associated individuals. In contrast to the Corded Ware Complex, which has previously been identified as arriving in central Europe following migration from the east, we observe limited genetic affinity between Iberian and central European Beaker Complex-associated individuals, and thus exclude migration as a signific…
Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus
Weyrich, Laura S. et al.
More data on ancient human mitogenome variability in Italy: new mitochondrial genome sequences from three Upper Palaeolithic burials.
BACKGROUND: Recently, the study of mitochondrial variability in ancient humans has allowed the definition of population dynamics that characterised Europe in the Late Pleistocene and Early Holocene. Despite the abundance of sites and skeletal remains few data are available for Italy. - AIM: We reconstructed the mitochondrial genomes of three Upper Palaeolithic individuals for some of the most important Italian archaeological contexts: Paglicci (South-Eastern Italy), San Teodoro (South-Western Italy) and Arene Candide (North-Western Italy) caves. - SUBJECTS AND METHODS We explored the phylogenetic relationships of the three mitogenomes in the context of Western Eurasian ancient and modern va…
Maternal DNA lineages at the gate of Europe in the 10th century AD
Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We suc…
A Revised Timescale for Human Evolution Based on Ancient Mitochondrial Genomes
Summary Background Recent analyses of de novo DNA mutations in modern humans have suggested a nuclear substitution rate that is approximately half that of previous estimates based on fossil calibration. This result has led to suggestions that major events in human evolution occurred far earlier than previously thought. Results Here, we use mitochondrial genome sequences from ten securely dated ancient modern humans spanning 40,000 years as calibration points for the mitochondrial clock, thus yielding a direct estimate of the mitochondrial substitution rate. Our clock yields mitochondrial divergence times that are in agreement with earlier estimates based on calibration points derived from e…
Genetic structure and differentiation from early bronze age in the mediterranean island of sicily: Insights from ancient mitochondrial genomes
Sicily is one of the main islands of the Mediterranean Sea, and it is characterized by a variety of archaeological records, material culture and traditions, reflecting the history of migrations and populations’ interaction since its first colonization, during the Paleolithic. These deep and complex demographic and cultural dynamics should have affected the genomic landscape of Sicily at different levels; however, the relative impact of these migrations on the genomic structure and differentiation within the island remains largely unknown. The available Sicilian modern genetic data gave a picture of the current genetic structure, but the paucity of ancient data did not allow so far to make p…
The spread of steppe and Iranian-related ancestry in the islands of the western Mediterranean
Steppe-pastoralist-related ancestry reached Central Europe by at least 2500 bc, whereas Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 bc. However, the spread of these ancestries into the western Mediterranean, where they have contributed to many populations that live today, remains poorly understood. Here, we generated genome-wide ancient-DNA data from the Balearic Islands, Sicily and Sardinia, increasing the number of individuals with reported data from 5 to 66. The oldest individual from the Balearic Islands (~2400 bc) carried ancestry from steppe pastoralists that probably derived from west-to-east migration from Iberia, although two later Balearic individ…
The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation
Recently a heterozygote advantage was suggested to explain the high incidence (1:25 carrier individuals in Europeans) of the cystic fibrosis gene. This selective advantage was speculated to be due to a high resistance to chloride-secreting diarrhea, including cholera. Up to now the major efforts to test directly this hypothesis have been limited to animal models.
Biomolecular study of the human remains from tomb 5859 in the Etruscan necropolis of Monterozzi Tarquinia (Vitarbo, Italy)
Abstract Archaeological excavation in an Etruscan room tomb, from the Monterozzi necropolis in Tarquinia led to the recovery of four individuals. It was hypothesized that they could be members of a single family group. As both archaeological data and classical anthropological analysis provided little information in this direction, ancient DNA (aDNA) was extracted from bone and tooth fragments of the individuals. For each subject HVR-I of the mitochondrial DNA (mtDNA) was cloned and sequenced. To identify the sex of the individuals, amelogenine and SRY genes were analysed. Short tandem repeat (STR) characterization was also performed. DNA studies were preceded by the evaluation of amino acid…
Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers
Acknowledgements: The authors thank G. Marciani and O. Jöris for comments on archaeology; C. Jeong, M. Spyrou and K. Prüfer for comments on genetics; M. O’Reilly for graphical support for Fig. 5 and Extended Data Fig. 9; the entire IT and laboratory teams at the Department of Archaeogenetics of MPI-SHH for technical assistance; M. Meyer and S. Nagel for support with single-stranded library preparation; K. Post, P. van Es, J. Glimmerveen, M. Medendorp, M. Sier, S. Dikstra, M. Dikstra, R. van Eerden, D. Duineveld and A. Hoekman for providing access to human specimens from the North Sea (The Netherlands); M. D. Garralda and A. Estalrrich for providing access to human specimens from La Riera (S…
The genomic history of Southern Europe
Farming was first introduced to southeastern Europe in the mid-7th millennium BCE - brought by migrants from Anatolia who settled in the region before spreading throughout Europe. However, the dynamics of the interaction between the first farmers and the indigenous hunter-gatherers remain poorly understood because of the near absence of ancient DNA from the region. We report new genome-wide ancient DNA data from 204 individuals-65 Paleolithic and Mesolithic, 93 Neolithic, and 46 Copper, Bronze and Iron Age-who lived in southeastern Europe and surrounding regions between about 12,000 and 500 BCE. We document that the hunter-gatherer populations of southeastern Europe, the Baltic, and the Nor…
Population dynamic of the extinct European aurochs: genetic evidence of a north-south differentiation pattern and no evidence of post-glacial expansion
International audience; Abstract Background The aurochs ( Bos primigenius ) was a large bovine that ranged over almost the entirety of the Eurasian continent and North Africa. It is the wild ancestor of the modern cattle ( Bos taurus ), and went extinct in 1627 probably as a consequence of human hunting and the progressive reduction of its habitat. To investigate in detail the genetic history of this species and to compare the population dynamics in different European areas, we analysed Bos primigenius remains from various sites across Italy. Results Fourteen samples provided ancient DNA fragments from the mitochondrial hypervariable region. Our data, jointly analysed with previously publis…
The diverse genetic origins of a Classical period Greek army.
Trade and colonization caused an unprecedented increase in Mediterranean human mobility in the first millennium BCE. Often seen as a dividing force, warfare is in fact another catalyst of culture contact. We provide insight into the demographic dynamics of ancient warfare by reporting genome-wide data from fifth-century soldiers who fought for the army of the Greek Sicilian colony of Himera, along with representatives of the civilian population, nearby indigenous settlements, and 96 present-day individuals from Italy and Greece. Unlike the rest of the sample, many soldiers had ancestral origins in northern Europe, the Steppe, and the Caucasus. Integrating genetic, archaeological, isotopic, …
Analisi paleogenetica dei cacciatori-raccoglitori della Sicilia: nuovi dati sul primo popolamento dell’isola
The first undisputed colonization of the island has been linked to Late or Final Epigravettian groups after the Last Glacial Maximum (LGM), as evidenced by the fossil record. Two significant sites to investigate this issue are the Grotta di San Teodoro (Acquedolci, Messina) and the Grotta d’Oriente (Favignana island). The Grotta di San Teodoro has yielded the oldest and largest human skeletal sample yet found in Sicily. Inside the cave, during field excavations carried out in the 1937-1947 years, seven human adults have been discovered (ST1-ST7). In the Grotta d’Oriente four prehistoric burials assigned to Late Upper Paleolithic (Oriente A and C) and Mesolithic (Oriente B and X) were uneart…
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
Ancient DNA (aDNA) studies are frequently focused on the analysis of the mitochondrial DNA (mtDNA), which is much more abundant than the nuclear genome, hence can be better retrieved from ancient remains. However, postmortem DNA damage and contamination make the data analysis difficult because of DNA fragmentation and nucleotide alterations. In this regard, the assessment of the heteroplasmic fraction in ancient mtDNA has always been considered an unachievable goal due to the complexity in distinguishing true endogenous variants from artifacts. We implemented and applied a computational pipeline for mtDNA analysis to a dataset of 30 ancient human samples from an Iron Age necropolis in Poliz…
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy)
: The urban plan of Palermo (Sicily, Italy) has evolved throughout Punic, Roman, Byzantine, Arab, and Norman ages until it stabilized within the borders that correspond to the current historic center. During the 2012 to 2013 excavation campaign, new remains of the Arab settlement, directly implanted above the structures of the Roman age, were found. The materials investigated in this study derived from the so-called Survey No 3, which consists of a rock cavity of subcylindrical shape covered with calcarenite blocks: it was probably used to dispose of garbage during the Arabic age and its content, derived from daily activities, included grape seeds, scales and bones of fish, small animal bon…
More data on ancient human mitogenome variability in Italy: new mitochondrial genome sequences from three Upper Palaeolithic burials
Recently, the study of mitochondrial variability in ancient humans has allowed the definition of population dynamics that characterised Europe in the Late Pleistocene and Early Holocene. Despite the abundance of sites and skeletal remains few data are available for Italy. We reconstructed the mitochondrial genomes of three Upper Palaeolithic individuals for some of the most important Italian archaeological contexts: Paglicci (South-Eastern Italy), San Teodoro (South-Western Italy) and Arene Candide (North-Western Italy) caves. We explored the phylogenetic relationships of the three mitogenomes in the context of Western Eurasian ancient and modern variability. Paglicci 12 belongs to sub-hapl…