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.; Achilli A.. - 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
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1451040
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact