Sicily, situated at the heart of the Mediterranean Sea, has been a crossroads of people of different origins since the Paleolithic. To gain further insight into the genetic history of this island from a matrilineal viewpoint, we investigated 15 millennia of human mitogenome evolution. A unique Sicilian mitochondrial DNA (mtDNA) dataset, represented by 116 ancient mitogenomes (including two newly sequenced) collected from 16 archeological sites dating from 14,700 to 545 years ago, was compared with a collection of 236 modern mitogenomes covering all districts of the island. By integrating demographic modeling with phylogeographic analyses, we identified a statistically supported genetic discontinuity between the Paleolithic/Late Mesolithic and Early Neolithic periods and two mtDNA lineages (U5b and U8b/K) that specifically mark this transition. The extensive variation and lack of genetic structure among modern mitogenomes suggest the presence of a continuous, maternally inherited gene flow from different regions of Western Eurasia (since the Paleolithic) and Africa (since the Bronze Age).

Fifteen millennia of human mitogenome evolution in Sicily / Tommasi A., Agostini R.B., Villani G., Migliore N.R., Vizzari M.T., Cardinali I., Di Gerlando R., Nicolini V., Sorasio G., Santos P., Olivieri A., Perego U.A., Catalano G., Volante N., Sarti L., Caramelli D., Sineo L., Lancioni H., Modi A., Ghirotto S., et al.. - In: SCIENCE ADVANCES. - ISSN 2375-2548. - ELETTRONICO. - 11:(2025), pp. eady1674.1-eady1674.13. [10.1126/sciadv.ady1674]

Fifteen millennia of human mitogenome evolution in Sicily

Caramelli D.
Conceptualization
;
2025

Abstract

Sicily, situated at the heart of the Mediterranean Sea, has been a crossroads of people of different origins since the Paleolithic. To gain further insight into the genetic history of this island from a matrilineal viewpoint, we investigated 15 millennia of human mitogenome evolution. A unique Sicilian mitochondrial DNA (mtDNA) dataset, represented by 116 ancient mitogenomes (including two newly sequenced) collected from 16 archeological sites dating from 14,700 to 545 years ago, was compared with a collection of 236 modern mitogenomes covering all districts of the island. By integrating demographic modeling with phylogeographic analyses, we identified a statistically supported genetic discontinuity between the Paleolithic/Late Mesolithic and Early Neolithic periods and two mtDNA lineages (U5b and U8b/K) that specifically mark this transition. The extensive variation and lack of genetic structure among modern mitogenomes suggest the presence of a continuous, maternally inherited gene flow from different regions of Western Eurasia (since the Paleolithic) and Africa (since the Bronze Age).
2025
11
1
13
Goal 3: Good health and well-being
Tommasi A.; Agostini R.B.; Villani G.; Migliore N.R.; Vizzari M.T.; Cardinali I.; Di Gerlando R.; Nicolini V.; Sorasio G.; Santos P.; Olivieri A.; Per...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1451040
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