- Spain
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We report on the use of rare mutations to tackle biosocial questions such as kinship and differential burial practices from past human populations. To do this, we have inferred nucleotide position 73 of HVS-II in individuals classified as... more
We report on the use of rare mutations to tackle biosocial questions such as kinship and differential burial practices from past human populations. To do this, we have inferred nucleotide position 73 of HVS-II in individuals classified as belonging to haplogroup H from 76 human dental samples from the necropolis of Aldaieta (Basque Country, Spain, 6th-7th century) by means of PCR and restriction enzyme tests. The same analysis has been performed for 146 extant individuals from the northern Iberian peninsula. A combination of haplotype H and 73G in HVS-II, rare in extant populations (0.5-3%), has been found at a frequency of 20% in the ancient population of Aldaieta. These data can be explained in terms of the existence of different burial practices associated with a variety of factors, mainly social status and kinship. This hypothesis is also supported by archeological data. These results indicate that caution should be taken when making phylogenetic inferences from extinct populations, because an uncharacterized kinship can significantly bias allele frequencies.
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... Alekshin, VA 1983. Burial customs as an archaeological source. Current Anthropology 24:13749. ... Alonso, Santos, Carlos Flores, Vicente Cabrera, Antonio Alonso, Pablo Martin, Cristina Albarrán, Neskuts Izagirre, Concepción de la... more
... Alekshin, VA 1983. Burial customs as an archaeological source. Current Anthropology 24:13749. ... Alonso, Santos, Carlos Flores, Vicente Cabrera, Antonio Alonso, Pablo Martin, Cristina Albarrán, Neskuts Izagirre, Concepción de la Rúa, and Oscar Garcia. 2005. ...
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The extraction of DNA from human skeletal remains applied to forensic, and evolutionary studies do not exclude risks, which are to be evaluated when working with unique specimens that could be damaged or even destroyed. In the present... more
The extraction of DNA from human skeletal remains applied to forensic, and evolutionary studies do not exclude risks, which are to be evaluated when working with unique specimens that could be damaged or even destroyed. In the present study were evaluated several nondestructive methods for recovering DNA instead of the most currently used pulverization method. Three different procedures to access inside the dental pieces (occlusal perforation, cervical perforation, and cervical cut) have been compared with the aim of recovering as many cell remains as possible to carry out a DNA extraction. Given the DNA quantitation results, a method was proposed that consists of a cervical cut to facilitate the access to the pulp cavity and a subsequent filing of the root canals down to the apex of the dental root. This methodology allows the recovery of both mitochondrial and nuclear DNA, with the minimum deterioration for the dental pieces.
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As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a... more
As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a relict Paleolithic population as once thought.
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<p><b>*significant after Bonferroni correction.</b></p><p><b>n.s: not significant.</b></p><p><b>n</b>: number of chromosomes; <b>SS</b>: segregating sites; pi:... more
<p><b>*significant after Bonferroni correction.</b></p><p><b>n.s: not significant.</b></p><p><b>n</b>: number of chromosomes; <b>SS</b>: segregating sites; pi: nucleotide diversity; <b>Hd</b>: haplotype diversity; <b>TD (p)</b>: Tajima's D (p value); <b>FLD (p)</b>: Fu & Li's D (p value); <b>FWHn (p)</b>: normalized Fay & Wu's H (p value); <b>DHEW(p)</b>: combined test DHEW (p value).</p><p>(p values in dnaSP obtained from 5000 standard coalescent simulations).</p
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Oncology, Medicine, Internal Medicine, Life, Melanoma, and 4 moreSnp, Genotyping, Allele, and Confidence Interval
... In this system, as in other minisatellites, tandem repeat units are not exactly identical but can present ... that its effective populational size is one quarter of that of the autosomal loci. ... that characterizes European... more
... In this system, as in other minisatellites, tandem repeat units are not exactly identical but can present ... that its effective populational size is one quarter of that of the autosomal loci. ... that characterizes European populations comes as no surprise then: 40,000 years is a short time ...
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En muchas zonas del Sur de Europa hay una fuerte desconexión entre los estudios osteoarqueológicos sobre humanos y la práctica de la arqueología funeraria de época medieval, de tal forma que la osteoarqueología humana trabaja sin... more
En muchas zonas del Sur de Europa hay una fuerte desconexión entre los estudios osteoarqueológicos sobre humanos y la práctica de la arqueología funeraria de época medieval, de tal forma que la osteoarqueología humana trabaja sin contextos y agendas de investigación histórica y la arqueología funeraria trabaja sin tomar en consideración los restos humanos. Los dos objetivos de este volumen son, por un lado, explorar las razones de este divorcio y tender puentes que permitan crear plataformas de análisis integral y pluridisciplinar del fenómeno funerario en el noroeste peninsular. Por otro lado se pretende analizar desde una perspectiva crítica la desigualdad y la complejidad de las sociedades medievales del noroeste a la luz de los registros arqueológicos y, en particular, los osteoarqueológicos. Los trabajos incluidos en el texto realizan un balance crítico de los principales estudios demográá cos y paleopatológicos hechos en algunas regiones, exponiendo en ocasiones los resultados obtenidos en los análisis osteoarqueológicos desde la perspectiva de la historia social. Aunque la mayor parte de los trabajos se ree eren al noroeste peninsular, con el n de comparar tres aportaciones se centran en otras regiones peninsulares. Además se incluyen algunos estudios monográá cos sobre yacimientos singulares que permiten profundizar en el análisis de casos concretos. Los dieciséis capítulos del volumen incluyen numerosas sugerencias metodológicas, conceptuales y operativas que permiten abrir un debate acerca del futuro de la osteoarqueología humana en relación con el análisis histórico del fenómeno funerario en la Edad Media.
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After the dispersal of modern humans (Homo sapiens) Out of Africa, hominins with a similar morphology to that of present-day humans initiated the gradual demographic expansion into Eurasia. The mitogenome (33-fold coverage) of the Peştera... more
After the dispersal of modern humans (Homo sapiens) Out of Africa, hominins with a similar morphology to that of present-day humans initiated the gradual demographic expansion into Eurasia. The mitogenome (33-fold coverage) of the Peştera Muierii 1 individual (PM1) from Romania (35 ky cal BP) we present in this article corresponds fully to Homo sapiens, whilst exhibiting a mosaic of morphological features related to both modern humans and Neandertals. We have identified the PM1 mitogenome as a basal haplogroup U6*, not previously found in any ancient or present-day humans. The derived U6 haplotypes are predominantly found in present-day North-Western African populations. Concomitantly, those found in Europe have been attributed to recent gene-flow from North Africa. The presence of the basal haplogroup U6* in South East Europe (Romania) at 35 ky BP confirms a Eurasian origin of the U6 mitochondrial lineage. Consequently, we propose that the PM1 lineage is an offshoot to South East E...
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Infectious diseases exert a constant evolutionary pressure on the genetic makeup of our innate immune system. Polymorphisms in Toll-like receptor 4 ( TLR4 ) have been related to susceptibility to Gram-negative infections and septic shock.... more
Infectious diseases exert a constant evolutionary pressure on the genetic makeup of our innate immune system. Polymorphisms in Toll-like receptor 4 ( TLR4 ) have been related to susceptibility to Gram-negative infections and septic shock. Here we show that two polymorphisms of TLR4 , Asp299Gly and Thr399Ile, have unique distributions in populations from Africa, Asia, and Europe. Genetic and functional studies are compatible with a model in which the nonsynonymous polymorphism Asp299Gly has evolved as a protective allele against malaria, explaining its high prevalence in subSaharan Africa. However, the same allele could have been disadvantageous after migration of modern humans into Eurasia, putatively because of increased susceptibility to severe bacterial infections. In contrast, the Asp299Gly allele, when present in cosegregation with Thr399Ile to form the Asp299Gly/Thr399Ile haplotype, shows selective neutrality. Polymorphisms in TLR4 exemplify how the interaction between our inn...
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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... more
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 inter...
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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... more
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 pre...
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Engineering, Ancient History, Evolutionary Biology, Genetics, Archaeology, and 15 moreChemistry, Biology, Agriculture, Biological Sciences, DNA, Dispersion, Humans, Europe, Haplotypes, Groups, Ancient DNA, Genetic variation, Ancient DNA of Human Populations, Ancient Migrations, and genetic heterogeneity
Aurpegiaren morfologia ezinbestekoa da banakoak euren artean ezberdindu ahal izateko. Lan honetan, aurpegiko ezaugarrietan eragina duten SNPak aztertu ditugu. Populazioen historia demografikoak aurpegiaren morfologiaren aldakortasunaren... more
Aurpegiaren morfologia ezinbestekoa da banakoak euren artean ezberdindu ahal izateko. Lan honetan, aurpegiko ezaugarrietan eragina duten SNPak aztertu ditugu. Populazioen historia demografikoak aurpegiaren morfologiaren aldakortasunaren proportzio handia azaltzen duela aurkitzen dugu. Hala ere, aurpegiaren aldakortasunean hautespen sexuala bezalako beste faktore batzuek ere eragina izan dezakete, nahiz eta maila txikiagoan. Sudurraren morfologian arreta jarriz, Asia ekialdeko eta Afrikako populazioek sudur zabalagoa dute orokorrean eta Europarrek, ordea, estuagoa. Emaitza hauek klimarekiko moldapen gisa azaldu ohi dira. Bestalde, aurpegiaren ezaugarriei loturiko SNPen azterketa, zientzia forentseetan ere erabilgarria izan daiteke, nahiz eta gaur egun, DNAtik abiatuta banako baten identifikazio fenotipikoa konplexua den arren.
As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a... more
As the only speakers of a non-Indo-European language lacking connections to any other language, the origin and evolution of the Basque population have been topics of interest. A new genomic analysis of Basques shows that they are not a relict Paleolithic population as once thought.
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Se hace un breve repaso a los estudios de Antropología física de la población vasca desde los inicios al presente, destacando los hallazgos y estudios antropológicos más importantes, las primeras interpretaciones y las limitaciones de la... more
Se hace un breve repaso a los estudios de Antropología física de la población vasca desde los inicios al presente, destacando los hallazgos y estudios antropológicos más importantes, las primeras interpretaciones y las limitaciones de la antropologia "clásica". Se presentan innovaciones metodológicas en la reconstrucción de nuestra historia evolutiva y visiones interdisciplinares que se ilustran con algunos ejemplos referidos al País Vasco. El futuro pasa por comprender las bases de la variación morfológica, el análisis genómico de las poblaciones actuales y la reconstrucción de la genealogía de los alelos mediante el desarrollo de metodología que hagan posible su análisis en el ADN de restos antiguos
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Analyse des effets de certains facteurs socio-culturels causes par l'environnement sur la sante, la morbidite, la croissance et l'adaptation de la population de Los Castros de Lastra au Nord de l'Espagne au 9 eme siecle. La... more
Analyse des effets de certains facteurs socio-culturels causes par l'environnement sur la sante, la morbidite, la croissance et l'adaptation de la population de Los Castros de Lastra au Nord de l'Espagne au 9 eme siecle. La region a souffert d'intenses conflits sociaux pendant l'occupation musulmane. Les pathologies dentaires constatees avec des indicateurs de stress (hypoplasie d'email, cribra orbitalia, croissance des os longs) montrent des frequences qui se distinguent de celles d'autres populations. La condition squelettique peut etre directement liee a des facteurs d'environnement : insuffisance de ressources dans un pays d'un aspect desolant, etablissement recent de la population, conflit social persistant
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Herein, we briefly review the anthropological studies published so far on the Basque population, highlighting the most relevant works and findings, the first interpretations and the limitations of the so called "classic"... more
Herein, we briefly review the anthropological studies published so far on the Basque population, highlighting the most relevant works and findings, the first interpretations and the limitations of the so called "classic" Anthropology. We describe the methodological innovations that have been recently implemented for the reconstruction of our evolutionary history and we present some interdisciplinary views, which are illustrated with some examples focused on the Basque Country. Future demands the comprehension of the basis of morphological variation, the genomic analysis of current populations and the reconstruction of gene genealogies through methods that can take into account data from extinct populations, i.e. DNA from ancient remains.
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En los últimos años, los trabajos con ADN antiguo se han ido conformando en un campo de investigación con unos objetivos bien definidos: las relaciones filogenéticas entre especies extintas y sus descendientes actuales, el análisis de la... more
En los últimos años, los trabajos con ADN antiguo se han ido conformando en un campo de investigación con unos objetivos bien definidos: las relaciones filogenéticas entre especies extintas y sus descendientes actuales, el análisis de la variabilidad genética poblacional a lo largo del tiempo o los cambios demográficos acontecidos en algún momento de su historia. Todo ello ha sido posible gracias a los avances de las técnicas de biología molecular y principalmente al desarrollo de la Reacción en Cadena de Polimerasa (PCR). A pesar de todos estos avances técnicos, el análisis del ADN antiguo se encuentra con algunas limitaciones, siendo las más importantes: el alto riesgo de contaminación con ADN actual y el deficiente estado de conservación del AON procedente de tejido antiguo. El análisis de los restos de especies preservados en colecciones de museos, normalmente de menor antigüedad, permite dar respuesta a cuestiones paleontológicas tales como relaciones entre especies extintas (m...
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Risk, Analysis, Mitochondrial DNA, Population, Ancient DNA, and 4 moreNumber, Laboratory, Skeleton, and Publication
... In this system, as in other minisatellites, tandem repeat units are not exactly identical but can present ... that its effective populational size is one quarter of that of the autosomal loci. ... that characterizes European... more
... In this system, as in other minisatellites, tandem repeat units are not exactly identical but can present ... that its effective populational size is one quarter of that of the autosomal loci. ... that characterizes European populations comes as no surprise then: 40,000 years is a short time ...
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ABSTRACT
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ABSTRACT