Fifteen millennia of human mitogenome evolution in Sicily

TL;DR

This study traces 15,000 years of maternal genetic history in Sicily, revealing a major genetic shift and ongoing gene flow from Eurasia and Africa.

Contribution

The study presents a unique dataset of 116 ancient Sicilian mitogenomes and identifies specific mtDNA lineages marking a genetic discontinuity.

Findings

A genetic discontinuity was identified between the Paleolithic/Late Mesolithic and Early Neolithic periods in Sicily.

Two mtDNA lineages, U5b and U8b/K, specifically mark the transition in genetic history.

Modern Sicilian mitogenomes show extensive variation and lack of structure, indicating continuous gene flow from Western Eurasia and Africa.

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).

Mitogenomes spanning 15 millennia reveal a genetic discontinuity within Sicily and continuous gene flow from Eurasia and Africa.

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