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MBE Advance Access published online on July 1, 2009
Molecular Biology and Evolution, doi:10.1093/molbev/msp126
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© The Author 2009. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Genealogical discontinuities among Etruscan, Medieval and contemporary Tuscans

Silvia Guimaraes{dagger}, Silvia Ghirotto*, Andrea Benazzo*, Lucio Milani{dagger}, Martina Lari{dagger}, Elena Pilli{dagger}, Elena Pecchioli{wedge}, Francesco Mallegni§, Barbara Lippi§, Francesca Bertoldi±, Sauro Gelichi±, Antonella Casoli, Elise M. S. Belle*, David Caramelli{dagger} and Guido Barbujani*

{dagger} Dipartimento di Biologia Evoluzionistica, Laboratorio di Antropologia, Università di Firenze, Firenze, Italy
* Dipartimento di Biologia ed Evoluzione, Università di Ferrara, Ferrara, Italy
{wedge} CEA, Centro di Ecologia Alpina, Fondazione Edmund Mach, Trento, Italy
§ Dipartimento di Biologia, Università di Pisa, Pisa, Italy
± Dipartimento di Scienze dell'Antichità e del Vicino Oriente, Università di Venezia, Venezia, Italy
Dipartimento di Chimica Generale e Inorganica, Chimica Analitica, Chimica Fisica, Università di Parma, Parma, Italy

Corresponding author: Guido Barbujani, Dipartimento di Biologia ed Evoluzione, Via Borsari 46, 44100 Ferrara, Italy, Email: g.barbujani{at}unife.it, Phone: +39 0532 455312, Fax: +39 0532 249761

Received for publication May 14, 2009. Accepted for publication June 20, 2009.

The available mitochondrial DNA (mtDNA) data do not point to clear genetic relationships between current Tuscans and the Bronze-Age inhabitants of Tuscany, the Etruscans. To understand how and when such a genetic discontinuity may have arisen, we extracted and typed the mtDNAs of 27 medieval Tuscans from an initial sample of 61, spanning a period between the 10th and 15th centuries A.D.. We then tested by serial coalescent simulation various models describing the genealogical relationships among past and current inhabitants of Tuscany, the latter including three samples (from Murlo, Volterra, Casentino) which were recently claimed to be of Etruscan descent. Etruscans and medieval Tuscans share three mitochondrial haplotypes, but fall in distinct branches of the mitochondrial genealogy in the only model that proved compatible with the data. Under that model, contemporary people of Tuscany show clear genetic relationships with Medieval people, but not with the Etruscans, along the female lines. No evidence of excess mutation was found in the Etruscan DNAs by a Bayesian test, and so there is no reason to suspect that these results be biased by systematic contamination of the ancient sequences or laboratory artefacts. Extensive demographic changes before 1000 A.D. are thus the simplest explanation for the differences between the contemporary and the Bronze-Age mitochondrial DNAs of Tuscany. Accordingly, genealogical continuity between ancient and modern populations of the same area does not seem a safe general assumption, but rather a hypothesis that, when possible, should be tested using ancient DNA analysis.

Key Words: Ancient DNA • Mitochondrial DNA • Coalescent simulations • Genealogies


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