Paleogenetics of Northern Iberian from Neolithic to Chalcolithic Time

Dynamics of the Neolithic transition across Europe using ancient DNA datasets have established that Neolithic European populations received a limited amount of admixture from resident hunter-gatherers. However, the genetic diversity of Neolithic and Chalcolithic human populations was shaped predominantly by local processes. In the Iberian Peninsula, the Cantabrian fringe showed different proportions of local hunter-gatherers’ ancestry through time. The objective of this chapter is to analyze the mitochondrial variation of populations from the northern Iberian Peninsula from Neolithic to Chalcolithic time using new data from El Aramo mine (Asturias), in the context of the debate about the origin and dispersion of the Beaker culture in Europe

Variación temporal del ADNmt en poblaciones de la cornisa cantábrica. Contribución del AND antiguo

333 p.Se ha realizado un análisis genético en diferentes poblaciones del norte de la Península Ibérica, cuya cronología abarca desde el periodo Magdaleniense hasta la época actual. Se ha evaluado la influencia del proceso de neolitización en la cornisa cantábrica, a la luz de las hipótesis existentes sobre el origen de la diversidad genética de las poblaciones actuales. Se ha analizado la variabilidad del ADNmt en un conjunto de 42 muestras prehistóricas del País Vasco y Cantabria y de 70 muestras actuales de Navarra. En el caso de las muestras prehistóricas, la metodología aplicada se ciñe a los criterios de autentificación propuestos por la comunidad científica. La variabilidad mitocondrial resultante en este estudio y su análisis en el contexto de otras muestras prehistóricas y actuales de Europa y el Próximo Oriente, indican que las poblaciones neolíticas de la cornisa cantábrica, experimentaron un flujo génico, como resultado de la difusión del neolítico en Europa. Concluyendo por tanto, que el fenómeno de neolitización fue heterogéneo, siguiendo una dispersión aleatoria. Por otro lado, el análisis de los yacimientos neolíticos de Paternanbidea y Los Cascajos (los mas representativos de la muestra analizada), indican que en estas poblaciones del Neolítico antiguo no se sigue un patrón funerario que pueda explicarse por los datos del ADNmt, desestimándose además la existencia de estructuración social, atribuida al Neolític

Environmental factors modulated ancient mitochondrial DnA variability and the prevalence of rheumatic diseases in the Basque country

Among the factors that would explain the distribution of mitochondrial lineages in Europe, climate and diseases may have played an important role. A possible explanation lies in the nature of the mitochondrion, in which the energy generation process produces reactive oxygen species that may influence the development of different diseases. The present study is focused on the medieval necropolis of San Miguel de Erenozar (13th-16th centuries, Basque Country), whose inhabitants presented a high prevalence of rheumatic diseases and lived during the Little Ice Age (LIA). Our results indicate a close relationship between rheumatic diseases and mitochondrial haplogroup H, and specifically between spondyloarthropathies and sub-haplogroup H2. One possible explanation may be the climate change that took place in the LIA that favoured those haplogroups that were more energy-efficient, such as haplogroup H, to endure lower temperatures and food shortage. However, it had a biological trade-off: the increased risk of developing rheumatic diseases.This work was supported by the Spanish Ministry of Economy, Industry and Competitiveness (GCL2016-79093/P), and grants from the Basque Government to Research Groups of the Basque University System (IT1138-16) and to Imanol Martin Laza (2014_1_326). We are grateful to the Institutions that granted permission for human remains study, including the Cultural Heritage Department of the Government of the Basque Country and the Archaeology Museum of Bizkaia

A Recording Form for Differential Diagnosis of Arthropathies

The present study is focused on a group of arthropathies that may have very similar bone manifestations (rheumatoid arthritis, ankylosing spondylitis, reactive arthritis, psoriatic arthritis, osteoarthritis and diffuse idiopathic skeletal hyperostosis), which makes it more difficult to diagnose them in human remains from archaeological contexts. A stepwise recording form was designed in order to improve the identification and differential diagnosis of these pathological conditions in bone remains, particularly in joint manifestations of the spine, pelvis, hands, feet and other limb joints. This recording form was applied in the analysis of two medieval individuals from the Basque Country (Spain) who presented very severe arthropathic manifestations. The use of this recording form allowed the researchers the diagnosis of ankylosing spondylitis in one of them and diffuse idiopathic skeletal hyperostosis in the other.This work was supported by the Spanish Ministry of Economy, Industry and Competitiveness (GCL2016-79093/P), and grants from the Basque Government to Research Groups of the Basque University System (IT1138-16). We are grateful to Mikel Neira, Director of the archaeological intervention in the medieval necropolis of San Miguel de Erenozar for the archaeological data. Besides, the Institutions that granted permission for human remains study, including the Government of the Basque Country (Cultural Heritage Dept.) and the Archaeology Museum of Bizkaia

Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis

Background: As a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impacts on the genetic structure of mitochondrial DNA (mtDNA) in historical Romanian provinces. We studied 714 Romanians from all historical provinces, Wallachia, Dobrudja, Moldavia, and Transylvania, by analyzing the mtDNA control region and coding markers to encompass the complete landscape of mtDNA haplogroups. Results: We observed a homogenous distribution of the majority of haplogroups among the Romanian provinces and a clear association with the European populations. A principal component analysis and multidimensional scaling analysis supported the genetic similarity of the Wallachia, Moldavia, and Dobrudja groups with the Balkans, while the Transylvania population was closely related to Central European groups. These findings could be explained by the topology of the Romanian territory, where the Carpathian Arch played an important role in migration patterns. Signals of Asian maternal lineages were observed in all Romanian historical provinces, indicating gene flow along the migration routes through East Asia and Europe. Conclusions: Our current findings based on the mtDNA analysis of populations in historical provinces of Romania suggest similarity between populations in Transylvania and Central Europe, supported both by the observed clines in haplogroup frequencies for several European and Asian maternal lineages and MDS analyses.This work was supported by grants two grants of the Romanian National Authority for Scientific Research, CNCS-UEFISCDI, project numbers PN-II-RU-TE-2014-4-0527 and PN-II-ID-PCCE 2011-2-0013; and by the Spanish Ministry of Science and Innovation (GCL2016-79093/P, Basque Government to Research Groups (IT1138-16) and University of the Basque Country-UPV/EHU (UFI 11/09). The funders had no role in the study design, collection, analysis and interpretation of data, or in the writing of the report or decision to submit the article for publication

The domestic dog that lived ∼17,000 years ago in the Lower Magdalenian of Erralla site (Basque Country): A radiometric and genetic analysis

Dogs are known to be the first species domesticated by humans, although the geographic and temporal origin of this process is still under debate in different fields of knowledge. In the present study, we examined a humerus from a canid recovered in the Lower Magdalenian level of the site of Erralla (Zestoa, Gipuzkoa, Basque Country, Spain), combining morphology, radiocarbon dating and genetics. Our results confirm the identification of this specimen as Canis lupus familiaris, discarding miss-identification with a dhole (Cuon alpinus) through genetic analyses of cytochrome b gene and mtDNA haplogroup. The direct AMS 14C dating (17,410–17,096 cal. BP) indicated that the Erralla specimen represents one of the earliest domesticated dogs in Europe, in the Lower Cantabrian Magdalenian period. We discuss our results in the light of the debate of the origin of dogs, conducting a critical review of the datings of sites of Eurasia that have provided remains of Paleolithic and Mesolithic dogs, including the so-called “dog-like wolves”.This research was supported by a Basque Government Grant for the study of the Erralla canid (C.R.) and for Research Groups in the Basque University Education System (IT 1693-22). The award of a predoctoral fellowship to A.S.J.N. by the Spanish Government (FPU, Ministerio de Ciencia Innovación y Universidades) and a previous fellowship by the Basque Government contributed to this research

The Loss of Functional Caspase-12 in Europe Is a Pre-Neolithic Event

Contains fulltext : 109878.pdf (publisher's version ) (Open Access)BACKGROUND: Caspase-12 (CASP12) modulates the susceptibility to sepsis. In humans, the "C" allele at CASP12 rs497116 has been associated with an increased risk of sepsis. Instead, the derived "T" allele encodes for an inactive caspase-12. Interestingly, Eurasians are practically fixed for the inactive variant, whereas in Sub-Saharan Africa the active variant is still common (~24%). This marked structure has been explained as a function of the selective advantage that the inactive caspase-12 confers by increasing resistance to infection. As regards to both when positive selection started acting and as to the speed with which fixation was achieved in Eurasia, estimates depend on the method and assumptions used, and can vary substantially. Using experimental evidence, we propose that, least in Eurasia, the increase in the frequency of the T allele might be related to the selective pressure exerted by the increase in zoonotic diseases transmission caused by the interplay between increased human population densities and a closer contact with animals during the Neolithic. METHODOLOG/PRINCIPAL FINDINGS: We genotyped CASP12 rs497116 in prehistoric individuals from 6 archaeological sites from the North of the Iberian Peninsula that date from Late Upper Paleolithic to Late Neolithic. DNA extraction was done from teeth lacking cavities or breakages using standard anti-contamination procedures, including processing of the samples in a positive pressure, ancient DNA-only chamber, quantitation of DNAs by qPCR, duplication, replication, genotyping of associated animals, or cloning of PCR products. Out of 50, 24 prehistoric individuals could finally be genotyped for rs497116. Only the inactive form of CASP12 was found. CONCLUSIONS/SIGNIFICANCE: We demonstrate that the loss of caspase-12 in Europe predates animal domestication and that consequently CASP12 loss is unlikely to be related to the impact of zoonotic infections transmitted by livestock

La investigación en antropología física. Una mirada al futuro

Desde su creación en 1976 la Sociedad Española de Antropología Física (SEAF) viene celebrando sus congresos bienales de forma ininterrumpida en distintas ciudades españolas. Estos encuentros, destinados a la discusión de los avances y resultados de las investigaciones bioantropológicas, suponen un foro de debate científico en el que participan investigadores de diversas áreas interesados en los estudios de Antropología Física, promoviendo la interacción entre especialistas e investigadores en formación. Asimismo, y dado el interés que esta disciplina despierta en la sociedad en general, la celebración de los Congresos de la SEAF permite mostrar las novedades acontecidas en el ámbito de la ciencia bioantropológica, facilitando la difusión del conocimiento más allá de la esfera académica. En este marco de reuniones científicas, los profesores del área de Antropología Física de la Facultad de Ciencia y Tecnología de la Universidad del País Vasco-Euskal Herriko Unibertsitatea (UPV/EHU) han sido los encargados de organizar el XVIII Congreso de la SEAF, celebrado en Bilbao durante los días 19 a 21 de junio de 2013. Este libro recoge las ponencias y principales comunicaciones presentadas en el XVIII Congreso, seleccionadas para su publicación y agrupadas en diferentes bloques temáticos que recogen algunas de los conocimientos actuales de la investigación bioantropológica: Ecología Humana, Biología Esquelética y Antropología Forense Paleoantropología y Primatología, y Diversidad Genética Humana. Se ha pretendido mostrar algunas de las cuestiones más relevantes actualmente y la proyección futura de la investigación en Antropología biológica, encaminada tanto al cuestionamiento de paradigmas (como la preponderancia de África en la evolución humana o la existencia de una única especie humana a partir del Pleistoceno Superior, entre otros), como a la comprensión de la relación fenotipo-genotipo, entre otras cuestiones de gran importancia para la reconstrucción de la historia evolutiva de nuestra especie. Sirvan las ponencias invitadas como ejemplo del nuevo enfoque de algunas áreas de la investigación en Antropología

Ancient DNA from Hunter-Gatherer and Farmer Groups from Northern Spain Supports a Random Dispersion Model for the Neolithic Expansion into Europe

Background/Principal Findings: The phenomenon of Neolithisation refers to the transition of prehistoric populations from a hunter-gatherer to an agro-pastoralist lifestyle. Traditionally, the spread of an agro-pastoralist economy into Europe has been framed within a dichotomy based either on an acculturation phenomenon or on a demic diffusion. However, the nature and speed of this transition is a matter of continuing scientific debate in archaeology, anthropology, and human population genetics. In the present study, we have analyzed the mitochondrial DNA diversity in hunter-gatherers and first farmers from Northern Spain, in relation to the debate surrounding the phenomenon of Neolithisation in Europe. Methodology/Significance: Analysis of mitochondrial DNA was carried out on 54 individuals from Upper Paleolithic and Early Neolithic, which were recovered from nine archaeological sites from Northern Spain (Basque Country, Navarre and Cantabria). In addition, to take all necessary precautions to avoid contamination, different authentication criteria were applied in this study, including: DNA quantification, cloning, duplication (51 % of the samples) and replication of the results (43 % of the samples) by two independent laboratories. Statistical and multivariate analyses of the mitochondrial variability suggest that the genetic influence of Neolithisation did not spread uniformly throughout Europe, producing heterogeneous genetic consequences in different geographical regions, rejecting the traditional models that explain the Neolithisation in Europe

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-alpha 2 in 10 patients: IFN-alpha 2 only in three, IFN-alpha 2 plus IFN-omega in five, and IFN-alpha 2, IFN-omega plus IFN-beta in two; IFN-omega only in nine patients). Seven children (3.8%) had Abs neutralizing at least 10 ng/ml of one IFN, whereas the other 12 (6.6%) had Abs neutralizing only 100 pg/ml. The auto-Abs neutralized both unglycosylated and glycosylated IFNs. We also detected auto-Abs neutralizing 100 pg/ml IFN-alpha 2 in 4 of 2,267 uninfected children (0.2%) and auto-Abs neutralizing IFN-omega in 45 children (2%). The odds ratios (ORs) for life-threatening COVID-19 pneumonia were, therefore, higher for auto-Abs neutralizing IFN-alpha 2 only (OR [95% CI] = 67.6 [5.7-9,196.6]) than for auto-Abs neutralizing IFN-. only (OR [95% CI] = 2.6 [1.2-5.3]). ORs were also higher for auto-Abs neutralizing high concentrations (OR [95% CI] = 12.9 [4.6-35.9]) than for those neutralizing low concentrations (OR [95% CI] = 5.5 [3.1-9.6]) of IFN-omega and/or IFN-alpha 2