Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans

PLoS One. 2015 Mar 18;10(3):e0119242. doi: 10.1371/journal.pone.0119242. eCollection 2015.


Background: Genetic analyses have recently been carried out on present-day Tuscans (Central Italy) in order to investigate their presumable recent Near East ancestry in connection with the long-standing debate on the origins of the Etruscan civilization. We retrieved mitogenomes and genome-wide SNP data from 110 Tuscans analyzed within the context of The 1000 Genome Project. For phylogeographic and evolutionary analysis we made use of a large worldwide database of entire mitogenomes (>26,000) and partial control region sequences (>180,000).

Results: Different analyses reveal the presence of typical Near East haplotypes in Tuscans representing isolated members of various mtDNA phylogenetic branches. As a whole, the Near East component in Tuscan mitogenomes can be estimated at about 8%; a proportion that is comparable to previous estimates but significantly lower than admixture estimates obtained from autosomal SNP data (21%). Phylogeographic and evolutionary inter-population comparisons indicate that the main signal of Near Eastern Tuscan mitogenomes comes from Iran.

Conclusions: Mitogenomes of recent Near East origin in present-day Tuscans do not show local or regional variation. This points to a demographic scenario that is compatible with a recent arrival of Near Easterners to this region in Italy with no founder events or bottlenecks.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Evolution, Molecular
  • Genome, Mitochondrial*
  • Genomics*
  • Haplotypes*
  • Humans
  • Italy
  • Middle East
  • Phylogeography
  • Whites / genetics*

Grant support

This project received funding from the Spanish Ministerio de Ciencia e Innovación (SAF2011-26983) and from the Plan Galego IDT, Xunta de Galicia (EM 2012/045) (A.S.) and Consellería de Sanidade/Xunta de Galicia (RHI07/2-Intensificación Actividad Investigadora and 10PXIB918184PR), Instituto Carlos III (Intensificación de la Actividad Investigadora) and Fondo de Investigación Sanitaria (FIS; PI070069 and PI1000540) of the Plan Nacional de I+D+I and ‘fondos FEDER’ (F.M.T.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.