Fifteen millennia of human mitogenome evolution in Sicily
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).
Authors
- Lucia Sarti (ORCID: https://orcid.org/0000-0002-3601-7352)
- David Caramelli (ORCID: https://orcid.org/0000-0001-6468-1675)
- Rajiv Boscolo Agostini (ORCID: https://orcid.org/0009-0000-8828-325X)
- Nicoletta Volante (ORCID: https://orcid.org/0000-0001-9656-4684)
- Alessandra Modi (ORCID: https://orcid.org/0000-0001-9514-9868)
- Alessandro Achilli (ORCID: https://orcid.org/0000-0001-6871-3451)
- Rosalinda Di Gerlando (ORCID: https://orcid.org/0000-0002-7834-0342)
- Anna Olivieri (ORCID: https://orcid.org/0000-0002-3941-8098)
- Silvia Ghirotto (ORCID: https://orcid.org/0000-0003-2522-9277)
- Giulio Catalano (ORCID: https://orcid.org/0000-0002-2564-5775)
- Maria Teresa Vizzari (ORCID: https://orcid.org/0000-0003-2370-1283)
- Ugo A. Perego (ORCID: https://orcid.org/0000-0001-9751-7011)
- Patrícia Santos (ORCID: https://orcid.org/0000-0003-2792-3385)
- Anna Tommasi (ORCID: https://orcid.org/0000-0002-4285-398X)
- Luca Sìneo (ORCID: https://orcid.org/0000-0001-8634-2295)
- Irene Cardinali (ORCID: https://orcid.org/0000-0003-0632-9993)
- Hovirag Lancioni (ORCID: https://orcid.org/0000-0001-5514-1853)
- Nicola Rambaldi Migliore (ORCID: https://orcid.org/0000-0003-1523-0450)
- Valeria Nicolini (ORCID: https://orcid.org/0009-0004-0622-1397)
- Giacomo Villani (ORCID: https://orcid.org/0009-0000-5354-7024)
- Gary Sorasio (ORCID: https://orcid.org/0009-0006-6757-5871)
Institutions
- University of Siena (IT)
- Southeastern Community College - Iowa (US)
- University of Ferrara (IT)
- University of Pavia (IT)
- University of Perugia (IT)
- University of Florence (IT)
- University of Palermo (IT)
Publication Details
- Journal
- Science Advances
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1126/sciadv.ady1674
- Primary Topic
- Forensic and Genetic Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00