Epigenetic variability is a new mechanism for the study of human microevolution, because it creates both phenotypic diversity within an individual and within population. This mechanism constitutes an important reservoir for adaptation in response to new stimuli and recent studies have demonstrated that selective pressures shape not only the genetic code but also DNA methylation profiles. The aim of this thesis is the study of the role of DNA methylation changes in human adaptive processes, considering the Italian peninsula and macro-geographical areas. A whole-genome analysis of DNA methylation profile across the Italian penisula identified some genes whose methylation levels differ between individuals of different Italian districts (South, Centre and North of Italy). These genes are involved in nitrogen compound metabolism and genes involved in pathogens response. Considering individuals with different macro-geographical origins (individuals of Asians, European and African ancestry) more significant DMRs (differentially methylated regions) were identified and are located in genes involved in glucoronidation, in immune response as well as in cell comunication processes. A "profile" of each ancestry (African, Asian and European) was described. Moreover a deepen analysis of three candidate genes (KRTCAP3, MAD1L and BRSK2) in a cohort of individuals of different countries (Morocco, Nigeria, China and Philippines) living in Bologna, was performed in order to explore genetic and epigenetic diversity. Moreover this thesis have paved the way for the application of DNA methylation for the study of hystorical remains and in particular for the age-estimation of individuals starting from biological samples (such as teeth or blood). Noteworthy, a mathematical model that considered methylation values of DNA extracted from cementum and pulp of living individuals can estimate chronological age with high accuracy (median absolute difference between age estimated from DNA methylation and chronological age was 1.2 years).

Around 100 kya, H. sapiens started its colonization of the world, gradually adapting to new environmental conditions and to extremely different alimentary resources. Interaction between the human genome and nutritional/climatic conditions is regulated by physiological mechanisms that modulate body temperature and the energetic balance. Genes involved in these processes are thus considered as one of the principal targets of biomedical research focused on chronic metabolic diseases. The aim of this project is to investigate micro-evolutionary processes that shaped metabolic variability among human populations through the description of patterns of genetic diversity and their potential association with phenotypes linked to nutrition and thermoregulation. Particularly the identification of potential adaptation processes was carried on through three major research projects. The first one focused on European populations, which have experienced several migration and adaptation processes during their recent evolutionary history. Through an in silico approach, it was possible to analyse the pattern of genetic variability in Europe for genes involved in different metabolic processes and to find multiple signals of local adaptation to climate. In the second study, thanking advantage from previous researches carried on by our research group on Italian samples and by means of genome-wide approaches, we investigate patterns of genetic variability at three genes associated to metabolic phenotypes along Italy. A targeted analysis has been conducted on samples from several Italian provinces, highlighting a different pattern of variability among distinct macro-areas of the peninsula thus indicating that different adaptation processes may have acted on such loci. Finally, in the last project, taking advantage from data generated for a probiotic treatment case study on individual affected by celiac disease, it was possible to evaluate the influence of this pathologic condition on gut microbiota composition and thus to get evolutionary insights into the complex interplay between gut microbiota and celiac disease susceptibility.

One of the main problems in reconstructing the biological profile of unidentified human remains is the reliability of the methods used. These methods are normally developed on modern identificated human skeletal collections, but human variability can introduce problematic biases when applied on osteological collections from different geografical and cronological contexts. This study test the reliability of selected macroscopic methods for sex determination: the index of sexualization of Acsadi and Nemeskeri, the Phenice method and for the age estimation: the synostosis of cranial sutures (Meindl and Lovejoy), the morphological variations at the pubic symphysis (Suchey and Brooks), the morphological variations at ileum surface (Lovejoy, et al.), the modifications of the sternal end of the fourth rib (Iscan et al.) and the variations of the degree of sacral vertebral body fusion (Belcastro et al.) on a large sample (n.489) of know sex and age from Certosa Cemetery of Bologna and “Colecção Esqueletos Identificados" of Coimbra. Regarding age, for each method was calculated the standard values of bias and inaccuracy. The method of pubic symphysis might be the most reliable for age estimation but we must consider the width of age ranges considered by the method. The values of inaccuracy are over 10 years in individuals older than 50 and 27 years in individuals older than 60. The index of sexualization confirm in more than 99% of cases the known sex and the Phenice method gave good results with the 87% of confirm. The reliability of the tested methods in the two european populations was confirmed, with the pelvis as the most diagnostic district, in particular the pubic symphysis. Nevertheless, the dramatic increase in values of bias and inaccuracy with increasing age confirms the need for new or revised age estimation methods that better suits the study of the remains of older individuals.

Per comprendere le vicende di una famiglia illustre e nobile il cui ruolo politico e sociale in Sicilia si data alle soglie del XIV secolo, non possiamo astenerci dal ricordare i fatti e gli eventi che hanno dominato la storia siciliana e determinato l’ascesa di Castelvetrano come centro signorile per eccellenza. E’ necessario, quindi, collocare geograficamente e storicamente l’isola per inserirla all’interno di un preciso quadro socio-politico. All’origine della sua storia sono sicuramente da individuare sia il legame intercorso nei secoli tra l’Asia e l’Europa, in particolare tra l’Asia Minore bizantina e l’area mediterranea unificata proprio dall’impero di Bisanzio, sia le lotte per l’egemonia tra Chiesa e Impero, (che abbastanza presto sarà impero d’Occidente) lotte che vedono entrambe le parti impegnate a contendersi il ruolo di guida politica, morale e spirituale dell’intera cristianità medievale, ritenendo ogni altro potere subordinato al proprio. / To understand the story of a noble and illustrious family whose political and social role in Sicily date is on the threshold of the fourteenth century, we can not refrain from remembering facts and events that have dominated the history of Sicily and led to the rise of Castelvetrano as a center for aristocratic excellence. E 'therefore necessary to place geographically and historically the island to slip into a specific socio-political context. At the origin of its history are definitely identify both the bond in the centuries that elapsed between Asia and Europe, in particular between the Byzantine Asia Minor and the area Mediterranean Unified own empire of Byzantium, and the struggles for hegemony between Church and Empire, (which will be soon enough empire of the West) that struggles see both sides committed to contend for the role of political leadership, moral and spiritual whole of Christianity medieval, considering all other powers subject to their own.

The subject of this doctoral dissertation concerns the definition of a new methodology for the morphological and morphometric study of fossilized human teeth, and therefore strives to provide a contribution to the reconstruction of human evolutionary history that proposes to extend to the different species of hominid fossils. Standardized investigative methodologies are lacking both regarding the orientation of teeth subject to study and in the analysis that can be carried out on these teeth once they are oriented. The opportunity to standardize a primary analysis methodology is furnished by the study of certain early Neanderthal and preneanderthal molars recovered in two caves in southern Italy [Grotta Taddeo (Taddeo Cave) and Grotta del Poggio (Poggio Cave), near Marina di Camerata, Campania]. To these we can add other molars of Neanderthal and modern man of the upper Paleolithic era, specifically scanned in the paleoanthropology laboratory of the University of Arkansas (Fayetteville, Arkansas, USA), in order to increase the paleoanthropological sample data and thereby make the final results of the analyses more significant. The new analysis methodology is rendered as follows: 1. Standardization of an orientation system for primary molars (superior and inferior), starting from a scan of a sample of 30 molars belonging to modern man (15 M1 inferior and 15 M1 superior), the definition of landmarks, the comparison of various systems and the choice of a system of orientation for each of the two dental typologies. 2. The definition of an analysis procedure that considers only the first 4 millimeters of the dental crown starting from the collar: 5 sections parallel to the plane according to which the tooth has been oriented are carried out, spaced 1 millimeter between them. The intention is to determine a method that allows for the differentiation of fossilized species even in the presence of worn teeth. 3. Results and Conclusions. The new approach to the study of teeth provides a considerable quantity of information that can better be evaluated by increasing the fossil sample data. It has been demonstrated to be a valid tool in evolutionary classification that has allowed (us) to differentiate the Neanderthal sample from that of modern man. In a particular sense the molars of Grotta Taddeo, which up until this point it has not been possible to determine with exactness their species of origin, through the present research they are classified as Neanderthal.

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