Ancient DNA analysis is a cutting-edge field of genetic research that focuses on extracting and analysing genetic material from ancient biological samples such as bones, teeth, and archaeological remains. This discipline enables scientists to study the genetic makeup of past populations, including extinct species, ancient humans, and organisms from various time periods. Advances in technology and methodology continue to expand the possibilities of what ancient DNA analysis can reveal about the past. Ancient DNA has some unique characteristics, and it is important to avoid any kind of contamination during the various extraction and library preparation processes. In this thesis work, done in the Ancient DNA facility at the Department of Biology and Biotechnology of the University of Pavia, 16 petrous bones from as many individuals were selected among various skeletal remains found in the Longobard Cathedral of Santa Maria in Civitate, inside the archaeological site of Amiternum (L’Aquila, Abruzzo, Italy). The extracted DNAs were low-coverage sequenced by NGS techniques and both mitochondrial and nuclear genomes of 15 out of 16 samples passed validation controls. For these samples molecular sex determination was performed, giving a first concrete results for 14 subadults samples and finding complete concordance with the anthropological and archeological determination of the only adult sample. Analyses of both mithocondrial and nuclear DNAs were conducted in order to investigate the genetic components of the ancient population of Amiternum. A Maximum Parsimony tree was constructed to determine the matrilineal lineages of the samples, while a Principal Component Analysis and ADMIXTURE were conducted to investigate genomic ancestries. The data obtained in this thesis provided novel clues on the Longobards settlement in Central Italy and their relationships with other populations.
L'analisi del DNA antico è un campo all'avanguardia della ricerca genetica che si concentra sull'estrazione e sull'analisi del materiale genetico proveniente da campioni biologici antichi come ossa, denti e resti archeologici. Questa disciplina consente agli scienziati di studiare la composizione genetica delle popolazioni passate, comprese specie estinte, antichi esseri umani e organismi di varie epoche. Gli avanzamenti tecnologici e metodologici continuano a espandere le possibilità di ciò che l'analisi del DNA antico può rivelare sul passato. Il DNA antico ha alcune caratteristiche uniche ed è importante evitare qualsiasi tipo di contaminazione durante i vari processi di estrazione e preparazione della libreria. In questo lavoro di tesi, svolto presso il laboratorio di DNA antico presso il Dipartimento di Biologia e Biotecnologie dell'Università di Pavia, sono stati selezionati 16 ossi petrosi provenienti da altrettanti individui tra vari resti scheletrici trovati nella Cattedrale Longobarda di Santa Maria in Civitate, all'interno del sito archeologico di Amiternum (L'Aquila, Abruzzo, Italia). I DNA estratti sono stati sequenziati a bassa copertura utilizzando tecniche NGS e sia i genomi mitocondriali che nucleari di 15 dei 16 campioni hanno superato i controlli di validazione. Per questi campioni è stata eseguita la determinazione molecolare del sesso, fornendo risultati concreti per 14 campioni subadulti e trovando completa concordanza con la determinazione antropologica e archeologica del solo campione adulto. Sono state condotte analisi sia del DNA mitocondriale che nucleare al fine di investigare i componenti genetici della popolazione antica di Amiternum. È stato costruito un albero di massima parsimonia per determinare le linee materne dei campioni, mentre è stata eseguita un'analisi delle componenti principali e ADMIXTURE per investigare le ascendenze genomiche. I dati ottenuti in questa tesi hanno fornito nuovi indizi sull'insediamento dei Longobardi nell'Italia centrale e sulle loro relazioni con altre popolazioni.
Ricostruzione della composizione genetica di una popolazione medievale di Amiternum
CIABINI, DARIO
2022/2023
Abstract
Ancient DNA analysis is a cutting-edge field of genetic research that focuses on extracting and analysing genetic material from ancient biological samples such as bones, teeth, and archaeological remains. This discipline enables scientists to study the genetic makeup of past populations, including extinct species, ancient humans, and organisms from various time periods. Advances in technology and methodology continue to expand the possibilities of what ancient DNA analysis can reveal about the past. Ancient DNA has some unique characteristics, and it is important to avoid any kind of contamination during the various extraction and library preparation processes. In this thesis work, done in the Ancient DNA facility at the Department of Biology and Biotechnology of the University of Pavia, 16 petrous bones from as many individuals were selected among various skeletal remains found in the Longobard Cathedral of Santa Maria in Civitate, inside the archaeological site of Amiternum (L’Aquila, Abruzzo, Italy). The extracted DNAs were low-coverage sequenced by NGS techniques and both mitochondrial and nuclear genomes of 15 out of 16 samples passed validation controls. For these samples molecular sex determination was performed, giving a first concrete results for 14 subadults samples and finding complete concordance with the anthropological and archeological determination of the only adult sample. Analyses of both mithocondrial and nuclear DNAs were conducted in order to investigate the genetic components of the ancient population of Amiternum. A Maximum Parsimony tree was constructed to determine the matrilineal lineages of the samples, while a Principal Component Analysis and ADMIXTURE were conducted to investigate genomic ancestries. The data obtained in this thesis provided novel clues on the Longobards settlement in Central Italy and their relationships with other populations.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/20.500.14239/17366