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Comparative Study
. 2007 Apr;80(4):759-68.
doi: 10.1086/512822. Epub 2007 Feb 6.

Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans

Free PMC article
Comparative Study

Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans

Alessandro Achilli et al. Am J Hum Genet. .
Free PMC article


The origin of the Etruscan people has been a source of major controversy for the past 2,500 years, and several hypotheses have been proposed to explain their language and sophisticated culture, including an Aegean/Anatolian origin. To address this issue, we analyzed the mitochondrial DNA (mtDNA) of 322 subjects from three well-defined areas of Tuscany and compared their sequence variation with that of 55 western Eurasian populations. Interpopulation comparisons reveal that the modern population of Murlo, a small town of Etruscan origin, is characterized by an unusually high frequency (17.5%) of Near Eastern mtDNA haplogroups. Each of these haplogroups is represented by different haplotypes, thus dismissing the possibility that the genetic allocation of the Murlo people is due to drift. Other Tuscan populations do not show the same striking feature; however, overall, ~5% of mtDNA haplotypes in Tuscany are shared exclusively between Tuscans and Near Easterners and occupy terminal positions in the phylogeny. These findings support a direct and rather recent genetic input from the Near East--a scenario in agreement with the Lydian origin of Etruscans. Such a genetic contribution has been extensively diluted by admixture, but it appears that there are still locations in Tuscany, such as Murlo, where traces of its arrival are easily detectable.


Figure  1.
Figure 1.
Four-dimensional region-based PCA of mtDNA haplogroup profiles in Europe and the Near East. Haplogroups and subhaplogroups included in the PCA are as follows: H (excluding H5), H5, HV0 (including HV0*, HV0a, and V), HV (including HV1 but excluding H and HV0), R0a, U1, U2, U3, U4, U5a, U5b, U6, U7, U8, K, U* (represented mainly by U9), J, T1, T2, X, N1 (represented mainly by I), N2 (represented mainly by W), M, and sub-Saharan L. The size of the circles represents the remaining axes (4–24) and is inversely proportional to the error associated with the projection of each population on the first three PCs. The numbers of subjects and haplogroup frequencies for each population are provided in table 2.
Figure  2.
Figure 2.
Plot of the contribution of each haplogroup to the first and second PC (projections of the axes of the original variables) in the analysis of figure 1.
Figure  3.
Figure 3.
Geographical locations of populations surveyed for R0a, HV (without H and HV0), U7, and U3 mtDNAs and their spatial frequency distributions. Frequency maps of haplogroups were obtained using Surfer version 6.04 (Golden Software), with the Kriging procedure, and estimates at each grid node were inferred by considering the entire data set. Etruria and the island of Lemnos (top) are indicated in yellow and red, respectively. Frequency values for populations 1–58 are from table 2, whereas those for populations 59–69 are as follows: 59 from the present study and the work of Plaza et al.; 60 and 64 from the work of Quintana-Murci et al.; 61 from the present study and the work of Richards et al.; 62, 65–67, and 69 from the present study; 63 from the present study and the work of Plaza et al.; and 68 from the work of Fadhlaoui-Zid et al.
Figure  4.
Figure 4.
Tree of the 209 mtDNA haplotypes observed among the 322 Tuscans (GenBank accession numbers EF026248–EF026569), subdivided according to their origin. This tree was constructed manually by comparison with the available mtDNA data sets and the basal Eurasian mtDNA classification trees., Haplotypes (from np 16024 to np 210) are 53 from Murlo, 59 from Volterra, 78 from the Casentino Valley, and 19 that are shared by at least two of the Tuscan groups. Haplogroups and subhaplogroups are indicated in red. The numbers on the connecting branches refer to the revised reference sequence (rCRS) and indicate either mutations from the sequence range or haplogroup diagnostic sites (red) outside that range. Mutations are transitions unless the base change is explicitly indicated. Insertions are suffixed with a plus sign (+) and the inserted nucleotide, and deletions have a “d” suffix. Heteroplasmic positions are indicated by an “h” after the nucleotide position.
Figure  5.
Figure 5.
Haplotypes found in Tuscany and shared exclusively with Near Eastern populations. Shared haplotypes are shown in different colors. Near East areas where the matching haplotypes were detected are illustrated on the map (inset) by colored circles. A group of six related R0a mtDNAs with the basic motif 16126-16230-16362, as well as two HV mtDNAs with the motif 16172-16311-16352, were found only in Tuscans (black). For additional information, see the legend of figure 4.

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