Present-day Ukraine has been a crossroads of peoples and cultures since the Paleolithic, due to its strategic location on the northern shore of the Black Sea, between Eastern Europe and the Pontic-Caspian steppe. It served as one of the glacial refuges (the East European Plain) where populations survived during the Last Glacial Maximum and later repopulated Europe. Its strategic location, fertile lands attracted migrations, settlements, and conflicts. These have resulted in a high number of admixture events that have layered the genetic history of Ukrainians, making it valuable for reconstructing the genetic landscape of Europe and Western Eurasia. The goal of this thesis was to investigate the genetic variability of the Donetsk oblast population within the context of Western Eurasia for reconstructing its origins and genetic history. Through separate and combined analyses of genomic data from modern and ancient individuals living in the territory of present-day Ukraine, this dissertation aims to add another piece of information to the complex genetic landscape of Europe. The first part of the thesis is focused on the current population of the Donetsk oblast, which is located in the region of the Great Eurasian Steppe. Donetsk oblast borders with the Russian Federation, and still a large part of the region is occupied by Russian forces since 2014; therefore, it is of particular interest to reveal the events of migration and gene flow with the surrounding regions. The gene pool of the modern population of Donetsk oblast (in year 1999) has been described through the study of 91 complete mtDNA sequences, complemented by genome-wide data from 45 individuals to provide both matrilineal and biparental perspectives. Phylogenetic analysis of the complete mitogenomes revealed extensive mitochondrial DNA variation, with 80 lineages predominantly of western Eurasian origin (96.7%), plus two East Asian haplogroups (D4 and G3; 3.3%). Age estimates suggest that some haplogroups (i.e., D, U5, U8, I, and J2) have been present on the territory of Ukraine since pre-glacial times. Bayesian skyline analysis indicated two population growth phases: one during the Paleolithic (44–38 kya), coinciding with the arrival of modern humans in Europe, and another during the Neolithic (11–6 kya), linked to agricultural expansion. Genome-wide data from Donetsk oblast individuals clustered with Eastern Slavic groups and some Northern Europeans in PCA, reflecting historical connections. Admixture analysis revealed two main components: one from Neolithic farmers and another from Eneolithic steppe pastoralists. The second part of this work contributed to the archaeogenomic reconstruction of the history of Ukraine. This evidence lays the genomic groundwork for a diachronic study of modern inhabitants and ancient individuals from Ukraine. We analysed seven ancient individuals belonging to three different cultures: two from Yamna, three from Catacomb, and two from Scythian. Three ancient DNA sequences reached a sufficient quality for further analysis: a Catacomb male and two Scythian females. Kinship analyses revealed that these two ancient Scythian genomes represent the same individual. When compared to other ancient genomes, the Catacomb genome consistently clusters with other Catacomb individuals as well as with others available for the Yamna and Corded Ware cultures, which shared similar territories. The Scythian genome falls between previously reported Scythians from Kazakhstan and Ukraine on one axis, and between Northern/Eastern Europe and the Caucasus/Middle East on the other axis, what suggests significant admixture due to the extensive nomadic lifestyle of the Scythians. The mitochondrial haplogroup H1, found in the Catacomb individual and in nine modern Ukrainians, is frequently observed in Slavic populations nowadays. The Scythian individual belongs to haplogroup D5a2a2, which is a sister clade of the D4 branch detected in the Donetsk oblast.

Present-day Ukraine has been a crossroads of peoples and cultures since the Paleolithic, due to its strategic location on the northern shore of the Black Sea, between Eastern Europe and the Pontic-Caspian steppe. It served as one of the glacial refuges (the East European Plain) where populations survived during the Last Glacial Maximum and later repopulated Europe. Its strategic location, fertile lands attracted migrations, settlements, and conflicts. These have resulted in a high number of admixture events that have layered the genetic history of Ukrainians, making it valuable for reconstructing the genetic landscape of Europe and Western Eurasia. The goal of this thesis was to investigate the genetic variability of the Donetsk oblast population within the context of Western Eurasia for reconstructing its origins and genetic history. Through separate and combined analyses of genomic data from modern and ancient individuals living in the territory of present-day Ukraine, this dissertation aims to add another piece of information to the complex genetic landscape of Europe. The first part of the thesis is focused on the current population of the Donetsk oblast, which is located in the region of the Great Eurasian Steppe. Donetsk oblast borders with the Russian Federation, and still a large part of the region is occupied by Russian forces since 2014; therefore, it is of particular interest to reveal the events of migration and gene flow with the surrounding regions. The gene pool of the modern population of Donetsk oblast (in year 1999) has been described through the study of 91 complete mtDNA sequences, complemented by genome-wide data from 45 individuals to provide both matrilineal and biparental perspectives. Phylogenetic analysis of the complete mitogenomes revealed extensive mitochondrial DNA variation, with 80 lineages predominantly of western Eurasian origin (96.7%), plus two East Asian haplogroups (D4 and G3; 3.3%). Age estimates suggest that some haplogroups (i.e., D, U5, U8, I, and J2) have been present on the territory of Ukraine since pre-glacial times. Bayesian skyline analysis indicated two population growth phases: one during the Paleolithic (44–38 kya), coinciding with the arrival of modern humans in Europe, and another during the Neolithic (11–6 kya), linked to agricultural expansion. Genome-wide data from Donetsk oblast individuals clustered with Eastern Slavic groups and some Northern Europeans in PCA, reflecting historical connections. Admixture analysis revealed two main components: one from Neolithic farmers and another from Eneolithic steppe pastoralists. The second part of this work contributed to the archaeogenomic reconstruction of the history of Ukraine. This evidence lays the genomic groundwork for a diachronic study of modern inhabitants and ancient individuals from Ukraine. We analysed seven ancient individuals belonging to three different cultures: two from Yamna, three from Catacomb, and two from Scythian. Three ancient DNA sequences reached a sufficient quality for further analysis: a Catacomb male and two Scythian females. Kinship analyses revealed that these two ancient Scythian genomes represent the same individual. When compared to other ancient genomes, the Catacomb genome consistently clusters with other Catacomb individuals as well as with others available for the Yamna and Corded Ware cultures, which shared similar territories. The Scythian genome falls between previously reported Scythians from Kazakhstan and Ukraine on one axis, and between Northern/Eastern Europe and the Caucasus/Middle East on the other axis, what suggests significant admixture due to the extensive nomadic lifestyle of the Scythians. The mitochondrial haplogroup H1, found in the Catacomb individual and in nine modern Ukrainians, is frequently observed in Slavic populations nowadays. The Scythian individual belongs to haplogroup D5a2a2, which is a sister clade of the D4 branch detected in the Donetsk oblast.

Archaeogenomic analyses of modern and ancient individuals from present-day Ukraine

KOZAK, NATALIIA
2024-12-13

Abstract

Present-day Ukraine has been a crossroads of peoples and cultures since the Paleolithic, due to its strategic location on the northern shore of the Black Sea, between Eastern Europe and the Pontic-Caspian steppe. It served as one of the glacial refuges (the East European Plain) where populations survived during the Last Glacial Maximum and later repopulated Europe. Its strategic location, fertile lands attracted migrations, settlements, and conflicts. These have resulted in a high number of admixture events that have layered the genetic history of Ukrainians, making it valuable for reconstructing the genetic landscape of Europe and Western Eurasia. The goal of this thesis was to investigate the genetic variability of the Donetsk oblast population within the context of Western Eurasia for reconstructing its origins and genetic history. Through separate and combined analyses of genomic data from modern and ancient individuals living in the territory of present-day Ukraine, this dissertation aims to add another piece of information to the complex genetic landscape of Europe. The first part of the thesis is focused on the current population of the Donetsk oblast, which is located in the region of the Great Eurasian Steppe. Donetsk oblast borders with the Russian Federation, and still a large part of the region is occupied by Russian forces since 2014; therefore, it is of particular interest to reveal the events of migration and gene flow with the surrounding regions. The gene pool of the modern population of Donetsk oblast (in year 1999) has been described through the study of 91 complete mtDNA sequences, complemented by genome-wide data from 45 individuals to provide both matrilineal and biparental perspectives. Phylogenetic analysis of the complete mitogenomes revealed extensive mitochondrial DNA variation, with 80 lineages predominantly of western Eurasian origin (96.7%), plus two East Asian haplogroups (D4 and G3; 3.3%). Age estimates suggest that some haplogroups (i.e., D, U5, U8, I, and J2) have been present on the territory of Ukraine since pre-glacial times. Bayesian skyline analysis indicated two population growth phases: one during the Paleolithic (44–38 kya), coinciding with the arrival of modern humans in Europe, and another during the Neolithic (11–6 kya), linked to agricultural expansion. Genome-wide data from Donetsk oblast individuals clustered with Eastern Slavic groups and some Northern Europeans in PCA, reflecting historical connections. Admixture analysis revealed two main components: one from Neolithic farmers and another from Eneolithic steppe pastoralists. The second part of this work contributed to the archaeogenomic reconstruction of the history of Ukraine. This evidence lays the genomic groundwork for a diachronic study of modern inhabitants and ancient individuals from Ukraine. We analysed seven ancient individuals belonging to three different cultures: two from Yamna, three from Catacomb, and two from Scythian. Three ancient DNA sequences reached a sufficient quality for further analysis: a Catacomb male and two Scythian females. Kinship analyses revealed that these two ancient Scythian genomes represent the same individual. When compared to other ancient genomes, the Catacomb genome consistently clusters with other Catacomb individuals as well as with others available for the Yamna and Corded Ware cultures, which shared similar territories. The Scythian genome falls between previously reported Scythians from Kazakhstan and Ukraine on one axis, and between Northern/Eastern Europe and the Caucasus/Middle East on the other axis, what suggests significant admixture due to the extensive nomadic lifestyle of the Scythians. The mitochondrial haplogroup H1, found in the Catacomb individual and in nine modern Ukrainians, is frequently observed in Slavic populations nowadays. The Scythian individual belongs to haplogroup D5a2a2, which is a sister clade of the D4 branch detected in the Donetsk oblast.
13-dic-2024
Present-day Ukraine has been a crossroads of peoples and cultures since the Paleolithic, due to its strategic location on the northern shore of the Black Sea, between Eastern Europe and the Pontic-Caspian steppe. It served as one of the glacial refuges (the East European Plain) where populations survived during the Last Glacial Maximum and later repopulated Europe. Its strategic location, fertile lands attracted migrations, settlements, and conflicts. These have resulted in a high number of admixture events that have layered the genetic history of Ukrainians, making it valuable for reconstructing the genetic landscape of Europe and Western Eurasia. The goal of this thesis was to investigate the genetic variability of the Donetsk oblast population within the context of Western Eurasia for reconstructing its origins and genetic history. Through separate and combined analyses of genomic data from modern and ancient individuals living in the territory of present-day Ukraine, this dissertation aims to add another piece of information to the complex genetic landscape of Europe. The first part of the thesis is focused on the current population of the Donetsk oblast, which is located in the region of the Great Eurasian Steppe. Donetsk oblast borders with the Russian Federation, and still a large part of the region is occupied by Russian forces since 2014; therefore, it is of particular interest to reveal the events of migration and gene flow with the surrounding regions. The gene pool of the modern population of Donetsk oblast (in year 1999) has been described through the study of 91 complete mtDNA sequences, complemented by genome-wide data from 45 individuals to provide both matrilineal and biparental perspectives. Phylogenetic analysis of the complete mitogenomes revealed extensive mitochondrial DNA variation, with 80 lineages predominantly of western Eurasian origin (96.7%), plus two East Asian haplogroups (D4 and G3; 3.3%). Age estimates suggest that some haplogroups (i.e., D, U5, U8, I, and J2) have been present on the territory of Ukraine since pre-glacial times. Bayesian skyline analysis indicated two population growth phases: one during the Paleolithic (44–38 kya), coinciding with the arrival of modern humans in Europe, and another during the Neolithic (11–6 kya), linked to agricultural expansion. Genome-wide data from Donetsk oblast individuals clustered with Eastern Slavic groups and some Northern Europeans in PCA, reflecting historical connections. Admixture analysis revealed two main components: one from Neolithic farmers and another from Eneolithic steppe pastoralists. The second part of this work contributed to the archaeogenomic reconstruction of the history of Ukraine. This evidence lays the genomic groundwork for a diachronic study of modern inhabitants and ancient individuals from Ukraine. We analysed seven ancient individuals belonging to three different cultures: two from Yamna, three from Catacomb, and two from Scythian. Three ancient DNA sequences reached a sufficient quality for further analysis: a Catacomb male and two Scythian females. Kinship analyses revealed that these two ancient Scythian genomes represent the same individual. When compared to other ancient genomes, the Catacomb genome consistently clusters with other Catacomb individuals as well as with others available for the Yamna and Corded Ware cultures, which shared similar territories. The Scythian genome falls between previously reported Scythians from Kazakhstan and Ukraine on one axis, and between Northern/Eastern Europe and the Caucasus/Middle East on the other axis, what suggests significant admixture due to the extensive nomadic lifestyle of the Scythians. The mitochondrial haplogroup H1, found in the Catacomb individual and in nine modern Ukrainians, is frequently observed in Slavic populations nowadays. The Scythian individual belongs to haplogroup D5a2a2, which is a sister clade of the D4 branch detected in the Donetsk oblast.
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Descrizione: Archaeogenomic analyses of modern and ancient individuals from present-day Ukraine
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1512957
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