Origins and Evolution of the Etruscans’ mtDNA

Abstract

The Etruscan culture is documented in Etruria, Central Italy, from the 8th to the 1st century BC. For more than 2,000 years there has been disagreement on the Etruscans’ biological origins, whether local or in Anatolia. Genetic affinities with both Tuscan and Anatolian populations have been reported, but so far all attempts have failed to fit the Etruscans’ and modern populations in the same genealogy. We extracted and typed the hypervariable region of mitochondrial DNA of 14 individuals buried in two Etruscan necropoleis, analyzing them along with other Etruscan and Medieval samples, and 4,910 contemporary individuals from the Mediterranean basin. Comparing ancient (30 Etruscans, 27 Medieval individuals) and modern DNA sequences (370 Tuscans), with the results of millions of computer simulations, we show that the Etruscans can be considered ancestral, with a high degree of confidence, to the current inhabitants of Casentino and Volterra, but not to the general contemporary population of the former Etruscan homeland. By further considering two Anatolian samples (35 and 123 individuals) we could estimate that the genetic links between Tuscany and Anatolia date back to at least 5,000 years ago, strongly suggesting that the Etruscan culture developed locally, and not as an immediate consequence of immigration from the Eastern Mediterranean shores.

A Genome-Wide Study of Modern-Day Tuscans: Revisiting Herodotus's Theory on the Origin of the Etruscans

“…While the age of the Middle Eastern founding U7b1 lineage [11] would fit well with Herodotus's theory, estimates based on mtDNA analysis in Ghirotto et al [12] (and most recently also in Tassi et al [13]) would indicate that this genetic link is too old and therefore consistent with the development of the Etruscan culture locally – and not directly mediated by migration from the Middle East.…”

The female ancestor's tale: Long‐term matrilineal continuity in a nonisolated region of Tuscany

“…The modern individuals are called “Tuscan” in the original publication (Falchi et al, ), but personal correspondence with prof. Giorgio Paoli (University of Pisa), a co‐author of the study, revealed that they had been sampled in Lucca hospital, from people having local ancestors up to their grandparents. The Etruscan samples have been previously published (Ghirotto et al, ) and do not come from north‐western Tuscany but the so‐called Classical Etruria, that is, Central Tuscany and Northern Latium.…”

“…Only 28 individuals among the 51 screened yielded enough DNA to be used in this study, and they represent the “Prehistoric,” “Romans,” and “Renaissance” groups listed in Table , while the “Etruscan” and “Modern” groups have been collected from published studies (Ghirotto et al, ; Falchi et al, ). HVR‐I sequences, 360 base‐pairs of length, were then aligned and compared across clones to define the consensus sequence.…”

“…Evidence of long‐term genealogical continuity was found in several genetic isolates, such as the Basques in Iberia, Ogliastra in Sardinia, and Casentino in Tuscany (Ghirotto et al, , ; Günther et al, ; Sampietro et al, ) but were often rejected in more open areas (Bramanti et al, ; Gamba et al, ; Guimaraes et al, ; Malmström et al, ). Only very recently serial coalescent simulations supported genetic continuity from the Neolithic to this day in nonisolated regions such as the Paris basin (Rivollat et al, ; Silva, Rio, & Currat, ) and the Southern Caucasus (Margaryan et al, ).…”

Genetic Evidence for Prehistoric Demographic Changes in Europe

“…In other words, because both Paleolithic and Neolithic migration occurred largely along the same Southeast to Northwest axis and samples are scattered over a broad space, it is all but clear whether the available methods and dataset can safely tell us which of the main models is better. It seems possible to address this question by estimating the type 1 error [63], i.e. generating by simulation pseudo-datasets under the two models, and then testing how often the generating model can be inferred from a blind analysis of these data [see an example in Zeder 60 ].…”