Gabriele Scorrano

Mitochondrial DNA variation in an isolated area of Central Italy.

Abstract Background: The genetic variation in Italy is the result of ancient population movement, demographic change, and geography. The increasing possibility of studying the maternal genetic structure of selected Italian population samples at a high level of phylogenetic resolution provides a particularly useful model to assess the presence of genetic traces of the ancient people who lived in Italy in pre-Roman times in present populations Aim: In this study we reconstructed the genetic maternal history of Jenne and Vallepietra, two mountain communities in the Aniene Valley in the Simbruini Mountains near Rome. Both communities have been spared external invasion due to their geographic location, which very likely preserved the genetic pool of these autochthonous populations. Subjects and methods: The study population (124 individuals from Jenne and Vallepietra) were investigated for D-loop mtDNA hypervariable segments I (HVS-I) and II (HVS-II) and for informative single nucleotide polymorphisms (SNPs) within the coding region. The detected haplotypes were then compared with those of other Italian, European and Mediterranean populations. Results: The distribution of mtDNA diversity in Jenne and Vallepietra, although similar to that found in other European populations, shows a basic variability and the typical signs of a certain degree of isolation between them and other populations analysed; in particular, the Vallepietra sample showed an unusually high frequency (71.3%) of mtDNA haplogroups which are typical of Near Eastern and South-Western Asian populations. Conclusion: The high degree of differentiation between the two villages is intriguing, since it suggests a low level of gene flow between them, despite their close geographic proximity and shared linguistic features. The degree of their genetic isolation, also in comparison to other Italian, European and Mediterranean populations, is consistent with isolation among geographically separated populations.

Palaeodiet reconstruction in a woman with probable celiac disease: A stable isotope analysis of bone remains from the archaeological site of Cosa (Italy)

Stable isotope analysis in the reconstruction of human palaeodiets can yield clues to early human subsistence strategies, origins and history of farming and pastoralist societies, and intra- and intergroup social differentiation. In the last 10 years, the method has been extended to the pathological investigation. Stable isotope analysis to better understand a diet-related disease: celiac disease in ancient human bones was carried out. To do this, we analyzed the nitrogen and carbon isotopic composition of human (n = 37) and faunal (n = 8) bone remains from the archaeological site of Cosa at Ansedonia, on the Tyrrhenian coast near Orbetello (Tuscany), including the skeletal remains of a young woman (late 1st century-early 2nd century Common Era [CE]) with morphological and genetic features suggestive of celiac disease. We compared the young womans isotopic data with those of other individuals recovered at the same site but from two later time periods (6th century CE; 11-12th century CE) and with literature data from other Italian archaeological sites dating to the same period. Her collagen δ(13) C and δ(15) N values differed from those of the samples at the same site, and from most but not all of the contemporary sites. Although the womans diet appears distinct, chronic malnutrition resulting from severe malabsorption of essential nutrients due to celiac disease may have affected the isotopic composition of her bone collagen.

Methodological strategies to assess the degree of bone preservation for ancient DNA studies

Abstract Background: Archaeological bones contain only small amounts of DNA due to post-mortem DNA degradation and the changes endogenous DNA is subjected to during diagenesis. An important step before undertaking such time-consuming and costly analyses as ancient DNA investigation is to predict the presence of DNA in ancient samples. To date, the leading screening method has been amino acid racemization; however, other analytical techniques can also be used to assess the degree of bone preservation. Aim: The aim of the present study was to relate the presence of DNA with bone preservation in order to select samples potentially suitable for ancient DNA analysis. Subjects and methods: Bones collected from several archaeological sites, different locations (cave, rockshelter or sub divo) and diachronic periods were selected for analytical and spectroscopic analysis in order to correlate bone tissue preservation with the presence of DNA. Different techniques were combined to assess the degree of preservation of organic and inorganic components. Results: As determined by different analytical methods, preservation of the inorganic component was best associated with the presence of DNA. Conclusion: Evaluation of the bone preservation state may be an efficient step to predict the presence of DNA in ancient samples prior to aDNA analysis.

Mitochondrial variability in the Mediterranean area: a complex stage for human migrations

Abstract Context: The Mediterranean area has always played a significant role in human dispersal due to the large number of migratory events contributing to shape the cultural features and the genetic pool of its populations. Objective: This paper aims to review and diachronically describe the mitogenome variability in the Mediterranean population and the main demic diffusions that occurred in this area over time. Methods: Frequency distributions of the leading mitochondrial haplogroups have been geographically and chronologically evaluated. The variability of U5b and K lineages has been focussed to broaden the knowledge of their genetic histories. Results: The mitochondrial genetic makeup of Palaeolithic hunter-gatherers is poorly defined within the extant Mediterranean populations, since only a few traces of their genetic contribution are still detectable. The Neolithic lineages are more represented, suggesting that the Neolithic revolution had a marked effect on the peopling of the Mediterranean area. The largest effect, however, was provided by historical migrations. Conclusion: Although the mitogenome variability has been widely used to try and clarify the evolution of the Mediterranean genetic makeup throughout almost 50 000 years, it is necessary to collect whole genome data on both extinct and extant populations from this area to fully reconstruct and interpret the impact of multiple migratory waves and their cultural and genetic consequences on the structure of the Mediterranean populations.

Variability and distribution of COL1A2 (type I collagen)polymorphisms in the central-eastern Mediterranean Basin

Abstract Background: The most abundant of the collagen protein family, type I collagen is encoded by the COL1A2 gene. The COL1A2 restriction fragment length polymorphisms (RFLPs) EcoRI, RsaI and MspI in samples from several different central-eastern Mediterranean populations were analysed and found to be potentially informative anthropogenetic markers. Aim: The objective was to define the genetic variability of COL1A2 in the central-eastern Mediterranean and to shed light on its genetic distribution in human groups over a wide geographic area. Subjects and methods: PCR-RFLP analysis of EcoRI, RsaI and MspI polymorphisms of the COL1A2 gene was performed on oral swab and blood samples from 308 individuals from the central-eastern Mediterranean Basin. The genetic similarities among these groups and other populations described in the literature were investigated through correspondence analysis. Results: Single-marker data and haplotype frequencies seemed to suggest a genetic homogeneity within the European populations, whereas a certain degree of differentiation was noted for the Egyptians and the Turks. Conclusions: The genetic variability in the central-eastern Mediterranean area is probably a result of the geographical barrier of the Mediterranean Sea, which separated European and African populations over time.

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.

The tale of Henry VII: a multidisciplinary approach to determining the post-mortem practice

During the Middle Ages in Europe, a different post-mortem funerary custom came to be used in order to transport and solemnly dispose of the bodies of high-status individuals. Because of their high degree of mobility, most medieval kings and queens rarely died where they had planned to be buried; thus, they had to be moved to the place of burial. Ancient writings describe some post-mortem funerary practices carried out to facilitate transport, such as boiling or burning of bodies after death.The remains of Henry VII of Luxembourg were analysed in order to determine which post-mortem practices were utilized. A detailed chemical-physical analysis was conducted to highlight the changes in the bone matrix due to post-mortem alteration. Boiling and burning leave different marks in the bone that could be differentiated through the analysis of the inorganic and organic components of the bone. Accordingly, anthropological, X-ray diffraction (XRD), infrared spectroscopy (FT-IR), collagen ratio, and scanning electron microscopy (FE-SEM/EDAX) analysis were performed on two different bone fragments: cranial and tibial shaft. This multidisciplinary approach has enriched scientific understanding of the post-mortem practices to which the skull and tibial shaft of Henry VII were subjected. The results highlight that the tibial shaft was treated under higher temperature respect to the skull. Furthermore, this analysis also shed light on the state of preservation of the bone fragments analysed and has allowed us to initiate more complex molecular analysis, as well as ancient DNA analysis.

Exploring the mitochondrial DNA variability of the Amazonian Yanomami.

The aim of this study was to explore the mitochondrial variability in the Yanomami population to reconstruct its demographic history and explore its genetic composition in relation to its cultural and linguistic features.