Estructura genética de dos comunidades afro-americanas de Ecuador

Tesis Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Biologia Animal I (Zoologia), leída el 29-10-1993Depto. de Biodiversidad, Ecología y EvoluciónFac. de Ciencias BiológicasTRUEpu

Estructura genética de dos comunidades afro-americanas de Ecuador

Tesis Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Biologia Animal I (Zoologia), leída el 29-10-1993Depto. de Biodiversidad, Ecología y EvoluciónFac. de Ciencias BiológicasTRUEpu

Pathological and normal variability of foot bones in osteological collections from Catalonia (Spain) and Lazio (Italy)

Acord transformatiu CRUE-CSICA wide number of factors can affect the structure of the bones in the foot. In bioarchaeology, few studies about foot anomalies include population comparisons and changes across time. We aimed to identify normal and pathological variability that affected the foot in the recent history of West Mediterranean populations. Thus, we analyzed change in occurrence of rare variants, pathological lesions, entheseal morphology, and their probable causes. We studied 518 pairs of skeletonized feet dated from the 2nd-20th centuries CE, from Catalonia (Spain) and the region of Lazio (Italy). Moreover, a Neolithic series from Oman has been analyzed for contrast. We found that calcaneal spur, hypertrophic peroneal trochlea of calcaneus, periosteal reaction of talar neck, alteration of articular surface to lateral cuneiform, displaced talar neck to medial plane, osteophytes in cuneiform-navicular joint, fused phalanges, and forefoot eburnation showed significant differences among countries. Contrasting by countries and dates, we noticed an increase in the frequencies of these variables from Spain over the centuries. Conversely, there are no temporal differences among the Italian series. The period encompassing the 10th-19th centuries CE demonstrated the highest differences between countries. Lifestyle, occupations, footwear, and geography could be the origin of variability

The medieval population of Leopoli-Cencelle (Viterbo, Latium) : dietary reconstruction through stable isotope analysis from bone proteins

The Medieval period in Europe was a time of unprecedented social complexity and significant social and political change that had an impact on human diets. The present study aims to use stable isotope analysis from bone proteins to explore the diets of humans (n = 76) and fauna (n = 5) from the Medieval town of Leopoli-Cencelle (VT, Italy). The town was occupied between the 9th–15th centuries CE, however, the analysed remains date to the Late Medieval period (12th–15th centuries CE). Historical sources provide some information about the inhabitants of this community: the majority of the population was represented by craftsmen and traders, but farmers and shepherds were also present. To date, no biomolecular data regarding this community have been published. The results indicated an increase of 3–5‰ in δ15N values of humans compared to animals, reflecting a high trophic-level. The δ13C results indicated that animal and human diet was mainly based on C3 terrestrial resources, although three humans possessed an isotopic signature indicative of C4 plant consumption. No statistically significant differences between sexes or age groups (adults vs juveniles) were detected. The isotopic results were further placed in their regional and chronological context, adding valuable data to our understanding of diet and food distribution during the Medieval period in Italy

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations

Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among populations. These markers can be useful to provide information about ancestry of samples which may be useful in predicting a perpetrator’s ethnic origin to aid criminal investigations. Variations in human pigmentation are the most obvious phenotypes to distinguish individuals. It has been recently shown that the variation of a G in an A allele of the coding single-nucleotide polymorphism (SNP) rs1426654 within SLC24A5 gene varies in frequency among several population samples according to skin pigmentation. Because of these observations, the SLC24A5 locus has been evaluated as Ancestry Informative Region (AIR) by typing rs1426654 together with two additional intragenic markers (rs2555364 and rs16960620) in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe). This study further supports the role of human SLC24A5 gene in skin pigmentation suggesting that variations in SLC24A5 haplotypes can correlate with human migration and ancestry. Furthermore, our data do reveal the utility of haplotype and combined unphased genotype analysis of SLC24A5 in predicting ancestry and provide a good example of usefulness of genetic characterization of larger regions, in addition to single polymorphisms, as candidates for population-specific sweeps in the ancestral population

The Genetic Landscape of Serbian Populations through Mitochondrial DNA Sequencing and Non-Recombining Region of the Y Chromosome Microsatellites

The Balkan Peninsula is known to represent a complex cultural mosaic and it is a strategic area because it represents a gateway into Europe from the Near East. This research seeks to evaluate the variability of both uniparental markers (mtDNA and non-recombining region of the Y chromosome) to dissect the genetic makeup of Serbians. The whole sample pertains to 257 Serbians (87 from the central region and 170 from the southern area) who have been analyzed for both uniparental genetic markers. The results showed that the extant inhabitants of the Balkan Peninsula have a homogeneous genetic background, despite their linguistic and cultural differences. The obtained data were compared with those of neighboring populations to detect possible relationships among groups. On the whole, the genetic variability of the Balkan populations seems to be due to an admixture process of European and Asian lineages in different proportions whose contributions constitute the current maternal and paternal genetic landscape

CYP1A1 Variability In Human Populations

The human cytochrome P4501A1 (CYP1A1) enzyme plays an important role in the metabolism of xenobiotics and endogenous substrates. Because polymorphisms within the CYP1A1 gene have been shown to be associated with various cancer risks and with the predicting clinical efficacy of some chemotherapies in different populations, most studies focus on their clinical significance. We, however, were interested in evaluating whether the polymorphisms could be used to distinguish human populations. Four single nucleotide CYP1A1 polymorphisms (rs4646903/ g.75011641; rs1048943/g.75012985; g.75012235; and rs1799814/ g.75012987) were analysed via PCR-RFLP assay in 1,195 individuals of various human groups from all over the world. In order to gain a more complete view of the genetic variability of the CYP1A1 gene, different statistical analyses were performed upon the populations of the present study and upon the limited data gleaned from previously studied populations. The allele and haplotype frequencies vary among populations: the rs4646903 (C) and rs1048943 (G) have been found to be nearly always linked and were found at the highest frequencies in Native Americans, while the variant associated to the position g.75012235 was only detected in certain African populations. Our work clearly indicates that the CYP1A1 polymorphisms differ among populations and that the prediction of genotypes constitutes an important aspect of precision medicine since some variants were associated with certain cancers and rs1048943 show strong association with optimized chemotherapy. Moreover, the CYP1A1 gene plays an important role in the metabolism of xenobiotics and it is likely that its frequencies could be strongly influenced by environmental factors

A multidisciplinary approach for investigating dietary and medicinal habits of the Medieval population of Santa Severa (7th-15th centuries, Rome, Italy)

A multidisciplinary approach, combining stable isotope analysis from bone proteins and investigations on dental calculus using DNA analysis, light microscopy, and gas chromatography coupled with mass spectrometry, was applied to reconstruct dietary and medicinal habits of the individuals recovered in the cemetery of the Castle of Santa Severa (7th-15th centuries CE; Rome, Italy). Stable isotope analysis was performed on 120 humans, 41 faunal specimens and 8 charred seeds. Dental calculus analyses were carried out on 94 samples. Overall, isotope data indicated an omnivorous diet based on C3-terrestrial protein, although some individuals possessed carbon values indicative of C4 plant consumption. In terms of animal protein, the diet was probably based on cattle, sheep, pig and chicken products, as witnessed by the archaeozoological findings. Evidence from calculus suggested the consumption of C3 cereals, Fabaceae, Fagaceae, milk and dairy products. Secondary metabolites of herbs and wine were also detected. The detection of marine fish ancient DNA, as well as of ω3 fatty acids in calculus, hypothesized the consumption of marine foodstuffs for this coastal population, despite the lack of a clear marine isotopic signal and the presence of polyunsaturated fatty acids in plant tissues. Moreover, the knowledge of ethnopharmacological tradition and the application of medicinal plants (e.g. Punica granatum L., Ephedra sp. L.) were also identified. The detection of artemisinin, known to have antimalarial properties, led to hypothesize the presence of malaria in the area. Altogether, the combined application of microscopy and biomolecular techniques provided an innovative reconstruction of Medieval lifeways in Central Italy

Who were the miners of Allumiere? A multidisciplinary approach to reconstruct the osteobiography of an Italian worker community

This research presents an in-depth study of the skeletal remains collected from the archaeological site of Allumiere (15th-16th centuries CE; Rome, Italy). A multidisciplinary approach was used, combining skeletal biology, molecular anthropology and archaeobotany with the aim of reconstructing the osteobiography of the alum miners buried at the site. Since 1460, the area of the Tolfa Mountains was significant for the exploitation of alum which was used for a wide range of purposes in the Middle Ages, ranging from woven production to medical practice. A total of 70 individuals (63 adults and 7 juveniles) were studied. The sex ratio of the community indicated a higher prevalence of males with respect to females. Morphological examination indicated occupational musculoskeletal stress markers, which might reflect the specific phase of alum production that each individual was occupied in. Dietary reconstruction was primarily performed through carbon and nitrogen stable isotope analysis with integration of the results obtained by microscopic, genetic and GC-MS investigations on dental calculus. The diet was omnivorous, indicating a reliance on C3-terrestrial protein and evidence for limited C4 consumption by some individuals. Herbivores, such as sheep and cattle, appear to have contributed to the diet more than pigs and chickens. Consumption of Fagaceae and Poaceae species was predominant; moreover, indicators of Brassicaceae and milk and its derivatives were abundantly recurrent in the population, followed by plant oils and theophylline. Furthermore, the detection of pharmacological alkaloids indicated the knowledge and application of medicinal plants by the community. The novel use of multiple techniques based on cutting-edge technologies has provided a unique window on the lifestyles of individuals from one of the first Italian settlements of alum workers

Exploring mobility in Italian Neolithic and Copper Age communities

As a means for investigating human mobility during late the Neolithic to the Copper Age in central and southern Italy, this study presents a novel dataset of enamel oxygen and carbon isotope values (δ18Oca and δ13Cca) from the carbonate fraction of biogenic apatite for one hundred and twenty-six individual teeth coming from two Neolithic and eight Copper Age communities. The measured δ18Oca values suggest a significant role of local sources in the water inputs to the body water, whereas δ13Cca values indicate food resources, principally based on C3 plants. Both δ13Cca and δ18Oca ranges vary substantially when samples are broken down into local populations. Statistically defined thresholds, accounting for intra-site variability, allow the identification of only a few outliers in the eight Copper Age communities, suggesting that sedentary lifestyle rather than extensive mobility characterized the investigated populations. This seems to be also typical of the two studied Neolithic communities. Overall, this research shows that the investigated periods in peninsular Italy differed in mobility pattern from the following Bronze Age communities from more northern areas