Ancient mitochondrial genomes from the Argentinian Pampas inform the early peopling of the Southern Cone of South America

The Southern Cone of South America (SCSA) is a key region for investigations about the peopling of the Americas. However, little is known about the eastern sector, the Argentinian Pampas. We analyzed 18 mitochondrial genomes?7 of which are novel?from human skeletal remains from 3 Early to Late Holocene archaeological sites. The Pampas present a distinctive genetic makeup compared to other Middle to Late Holocene pre-Columbian SCSA populations. We also report the earliest individuals carrying SCSA-specific mitochondrial haplogroups D1j and D1g fromEarly andMiddle Holocene, respectively. Using these deep calibration time points in Bayesian phylogenetic reconstructions, we suggest that the first settlers of the Pampas were part of a single and rapid dispersal 15,600 years ago. Finally, we propose that present-day genetic differences between the Pampas and the rest of the SCSA are due to founder effects, genetic drift, and a partial population replacement 9,000 years ago.Fil: Roca Rada, Xavier. Centre For Ancient Dna, University Of Adelaide; AustraliaFil: Politis, Gustavo Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Messineo, Pablo Geronimo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Scheifler, Nahuel Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Scabuzzo, Clara. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia de Entre Ríos. Universidad Nacional de Entre Ríos. Centro de Investigaciones y Transferencia de Entre Ríos; ArgentinaFil: Gonzalez, Mariela Edith. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Harkins, Kelly M.. University of California; Estados UnidosFil: Reich, David. Harvard Medical School; Estados UnidosFil: Souilmi, Yassine. University of Adelaide; AustraliaFil: Teixeira, Joao C. T.. University of Adelaide; AustraliaFil: Llamas, Bastien. University of Adelaide; AustraliaFil: Fehren Schmitz, Lars. University of California; Estados Unido

Ancient mitochondrial genomes from the Argentinian Pampas inform the early peopling of the Southern Cone of South America

The Southern Cone of South America (SCSA) is a key region for investigations about the peopling of the Americas. However, little is known about the eastern sector, the Argentinian Pampas. We analyzed 18 mitochondrial genomes-7 of which are novel-from human skeletal remains from 3 Early to Late Holocene archaeological sites. The Pampas present a distinctive genetic makeup compared to other Middle to Late Holocene pre-Columbian SCSA populations. We also report the earliest individuals carrying SCSA-specific mitochondrial haplogroups D1j and D1g from Early and Middle Holocene, respectively. Using these deep calibration time points in Bayesian phylogenetic reconstructions, we suggest that the first settlers of the Pampas were part of a single and rapid dispersal ∼15,600 years ago. Finally, we propose that present-day genetic differences between the Pampas and the rest of the SCSA are due to founder effects, genetic drift, and a partial population replacement ∼9,000 years ago.Facultad de Ciencias Naturales y Muse

A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics

We thank the Municipality of Bragança, the University of Coimbra, the University of Adelaide, the Max Planck Society, and the Calouste Gulbenkian Foundation for the support provided. ST is supported by the Fundação para a Ciência e a Tecnologia (SFRH/BD/116363/2016). BL (FT170100448) and JCT (DE210101235) are supported by the Australian Research Council. ABR is supported by the European Research Council (771234-PALEoRIDER)

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice

Human demographic insights from paleogenetic studies of American and Iberian skeletal remains

The study of the past through the examination of preserved genetic material from ancient remains has revolutionised the fields of archaeology, anthropology, and evolutionary biology. Ancient DNA can be used as a tool to tackle several questions from a narrow to a broad view, i.e., from a specific archaeological context to global demographic processes. Indeed, in this thesis I covered a large range of projects following this perspective, grouping them according to their respective geographical area: Iberia, Mesoamerica, and the Southern Cone of South America. Part I focuses on the Iberian Peninsula, the westernmost edge of Eurasia and probably one of the most distant regions during the peopling of the continent. In Chapter I, I describe a 1,000- year-old case of Klinefelter’s Syndrome, from an individual unearthed at the mediaeval archaeological site of Torre Velha (Portugal). This work provides an unprecedented integration of morphological, osteological, and genetic evidence to confirm the clinical diagnosis. It also introduces a novel statistical implementation that allows to probabilistically assign individuals to karyotypes based on the number of reads mapping to the X, Y, and autosomal chromosomes. In Chapter II, I investigate the genetic context of the Mas d’en Boixos (MDB) archaeological site—located in the central Pre-littoral depression of Catalonia, Spain—analysing two individuals from the Middle Neolithic, nine from the Early Bronze Age and three previously published from the Iron Age. I infer kinship relationships between individuals buried in close proximity, determine diachronic genetic changes at MDB, contextualise MDB within the rest of Iberia and investigate the Bronze Age transition in Iberia. Part II focuses on the study of pre-Columbian Mesoamerica, a historical and cultural region in Central America whose people probably carried an invaluable genetic diversity partly lost during the Spanish conquest and the subsequent colonial period. In Chapter III, I review previously published ancient DNA studies in pre-Columbian Mesoamerica. Despite a rich archaeological record and Indigenous cultural diversity, aDNA studies are limited and have thus far focused on the study of mitochondrial DNA regions. In Chapter IV, I investigate the past genetic history of pre-Columbian Mesoamerica by analysing 25 newly sequenced ancient genomes from five different archaeological sites across Mesoamerica spanning the time periods between 320 and 1,400 CE. Despite the small sample size, this chapter offers the first (and ongoing) Mesoamerican aDNA genetic screening that includes full mitogenomes and nuclear data. Part III focuses on the Southern Cone of South America (SCSA), a key study region to build a comprehensive picture of the peopling of the Americas as it is geographically the most distant location from the entry point, Beringia. In Chapter V, I investigate the early peopling of the SCSA analysing eighteen ancient human mitochondrial genomes—seven of which are novel— from three Early to Late Holocene (10,000–1,500 years ago) archaeological sites from the understudied Argentinian Pampas and assessing its influence in the southernmost regions.Thesis (Ph.D.) -- University of Adelaide, School of Biological Sciences, 202

Ancient mitochondrial genomes from the Argentinian Pampas inform the early peopling of the Southern Cone of South America.

The Southern Cone of South America (SCSA) is a key region for investigations about the peopling of the Americas. However, little is known about the eastern sector, the Argentinian Pampas. We analyzed 18 mitochondrial genomes-7 of which are novel-from human skeletal remains from 3 Early to Late Holocene archaeological sites. The Pampas present a distinctive genetic makeup compared to other Middle to Late Holocene pre-Columbian SCSA populations. We also report the earliest individuals carrying SCSA-specific mitochondrial haplogroups D1j and D1g from Early and Middle Holocene, respectively. Using these deep calibration time points in Bayesian phylogenetic reconstructions, we suggest that the first settlers of the Pampas were part of a single and rapid dispersal ∼15,600 years ago. Finally, we propose that present-day genetic differences between the Pampas and the rest of the SCSA are due to founder effects, genetic drift, and a partial population replacement ∼9,000 years ago

A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics

The skeleton of a human being buried over 1000 years ago, in the medieval archaeological site of Torre Velha, in north-eastern Portugal, was referred to us for analysis and investigationinfo:eu-repo/semantics/publishedVersio