In the last decades, genomic studies have proved to be a useful tool to investigate the history of humankind, allowing us to learn more and more about genetic and migratory flows and the populations variability. In this context Italy represents an interesting case study, where the variety of populations seen in Europe can be studied at a micro-geographical scale. A yet unexplored region of Italy is the Trentino region. Due to its mountainous environment, where about 60% of the territory is situated at more than 1000 meters above sea level, this area has been probably isolated throughout history. At the same time the presence of many valleys may have provided a route for communication with adjacent populations, leading to a potentially interesting genetic variability. In this work of thesis 48 modern inhabitants of the Ledro valley in the province of Trento and 4 ancient individuals from the same area were analyzed to investigate the genetic variability of this population. Modern samples were obtained through voluntary sampling, while MUSE of Trento kindly provided the ancient human remains that were discovered in a pile-dwelling site dating back to the late Neolithic. Modern samples were studied through a genome-wide screening, using Axiom Human Origins 1 array in outsourcing, while the ancient human remains were handled in a dedicated cleanroom where DNA was extracted and the libraries for a whole genome shotgun sequencing were prepared. Based on the mtDNA data obtained the samples were classified in different haplogroups. A kinship analysis was carried out on all samples. Our modern and ancient data were compared with a dataset of published data representative of the Western Eurasia area through Principal Component Analyses. These are the first results concerning the genetic variability of the Ledro Valley’s population. They will provide a genetic background to understand the genetic history of this valley, eventually widen by extending the set of ancient samples and by increasing the level of molecular resolution to entire genomes.
Negli ultimi decenni, gli studi di genomica si sono dimostrati essere un prezioso strumento per indagare la storia del genere umano, permettendoci di comprendere sempre meglio i flussi genetici e migratori e la variabilità delle popolazioni. In questo contesto, l’Italia rappresenta un interessante caso studio, dove la varietà di popolazioni osservate in Europa può essere studiata ad una scala micro-geografica. Una regione non ancora esplorata dell’Italia è la regione del Trentino. A causa dell’ambiente montuoso, dove circa il 60% del territorio è situato a più di 1000 metri sul livello del mare, quest’area è stata probabilmente isolata nel corso della storia. Allo stesso tempo, la presenza di molte valli potrebbe avere fornito una via di comunicazione con le popolazioni limitrofe, portando a una variabilità genetica potenzialmente interessante. In questo lavoro di tesi, 48 campioni da abitanti moderni della valle di Ledro in provincia di Trento e sono stati analizzati insieme a campioni di 4 individui antichi della stessa area geografica per investigare la variabilità genetica di questa popolazione. I campioni moderni sono stati ottenuti mediante campionamento volontario, mentre il MUSE di Trento ha gentilmente fornito i reperti ossei che furono scoperti in un sito palafitticolo risalente al tardo Neolitico. I campioni moderni sono stati studiati con un’analisi genome-wide, usando Axiom Human Origins 1 array in outsourcing, mentre i reperti ossei sono stati trattati in una clean-room dedicata, dove il DNA è stato estratto e dove sono state preparate le librerie per un sequenziamento shotgun. Basandosi sui dati ottenuti del DNA mitocondriale, i campioni sono stati classificati in differenti aplogruppi, mentre sui dati genomici è stata svolta un’analisi di kinship. I nostri dati genomici, antichi e moderni, sono stati comparati mediante una Principal Component Analysis, utilizzando un dataset di dati pubblicati rappresentativo dell’area dell’Eurasia occidentale. Questi sono i primi risultati riguardanti la variabilità genetica della popolazione antica della valle di Ledro, che permetteranno di comprendere meglio la storia genetica di questa valle. Tale storia sarà ulteriormente approfondita aumentando il numero di campioni antichi analizzati e portando il livello di risoluzione molecolare all’intero genoma.
La storia genetica della Valle di Ledro in Trentino: dai mitogenomi moderni all'archeogenomica
PILONI, ILARIA
2022/2023
Abstract
In the last decades, genomic studies have proved to be a useful tool to investigate the history of humankind, allowing us to learn more and more about genetic and migratory flows and the populations variability. In this context Italy represents an interesting case study, where the variety of populations seen in Europe can be studied at a micro-geographical scale. A yet unexplored region of Italy is the Trentino region. Due to its mountainous environment, where about 60% of the territory is situated at more than 1000 meters above sea level, this area has been probably isolated throughout history. At the same time the presence of many valleys may have provided a route for communication with adjacent populations, leading to a potentially interesting genetic variability. In this work of thesis 48 modern inhabitants of the Ledro valley in the province of Trento and 4 ancient individuals from the same area were analyzed to investigate the genetic variability of this population. Modern samples were obtained through voluntary sampling, while MUSE of Trento kindly provided the ancient human remains that were discovered in a pile-dwelling site dating back to the late Neolithic. Modern samples were studied through a genome-wide screening, using Axiom Human Origins 1 array in outsourcing, while the ancient human remains were handled in a dedicated cleanroom where DNA was extracted and the libraries for a whole genome shotgun sequencing were prepared. Based on the mtDNA data obtained the samples were classified in different haplogroups. A kinship analysis was carried out on all samples. Our modern and ancient data were compared with a dataset of published data representative of the Western Eurasia area through Principal Component Analyses. These are the first results concerning the genetic variability of the Ledro Valley’s population. They will provide a genetic background to understand the genetic history of this valley, eventually widen by extending the set of ancient samples and by increasing the level of molecular resolution to entire genomes.È consentito all'utente scaricare e condividere i documenti disponibili a testo pieno in UNITESI UNIPV nel rispetto della licenza Creative Commons del tipo CC BY NC ND.
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https://hdl.handle.net/20.500.14239/16747