European Journal of Human Genetics (2009) 17, 91–99; doi:10.1038/ejhg.2008.120; published online 6 August 2008

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Cornelia Di Gaetano1,10, Nicoletta Cerutti1,10, Francesca Crobu1,11, Carlo Robino2, Serena Inturri2, Sarah Gino2, Simonetta Guarrera3, Peter A Underhill4, Roy J King5, Valentino Romano6, Francesco Cali7, Mauro Gasparini8, Giuseppe Matullo1,3, Alfredo Salerno9, Carlo Torre2 and Alberto Piazza1

  1. 1Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy
  2. 2Department of Anatomy, Pharmacology and Legal Medicine, University of Turin, Turin, Italy
  3. 3ISI Foundation, Turin, Italy
  4. 4Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
  5. 5Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA
  6. 6Dipartimento di Oncologia Sperimentale e Applicazioni Cliniche, Università di Palermo, Palermo, Italy
  7. 7Laboratorio di Genetica Molecolare, Istituto per la Ricerca sul Ritardo Mentale e l'Involuzione Cerebrale, Associazione Oasi Maria SS, Troina, Italy
  8. 8Department of Mathematics, Politecnico di Torino, Turin, Italy
  9. 9Dipartimento di Biopatologia e Metodologie Biomediche, Universita di Palermo, Palermo, Italy

Correspondence: Dr C Di Gaetano, Department of Genetics, Biology and Biochemistry, University of Turin, via Santena 19, Turin 10126, Italy. Tel: +39 011 670 5614; Fax: +39 011 670 5668; E-mail:

10These authors have equally contributed to this work

11Current address: INN-CNR, Cittadella Universitaria di Cagliari, SS 554 km 4500 bivio per Sestu, Monserrato (CA) 09042, Italy

Received 20 December 2007; Revised 2 May 2008; Accepted 29 May 2008; Published online 6 August 2008.



The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several areas of Sicily, we show that traces of genetic flows occurred in the island, due to ancient Greek colonization and to northern African contributions, are still visible on the basis of the distribution of some lineages. The genetic contribution of Greek chromosomes to the Sicilian gene pool is estimated to be about 37% whereas the contribution of North African populations is estimated to be around 6%.

In particular, the presence of a modal haplotype coming from the southern Balkan Peninsula and of its one-step derivates associated to E3b1a2-V13, supports a common genetic heritage between Sicilians and Greeks. The estimate of Time to Most Recent Common Ancestor is about 2380 years before present, which broadly agrees with the archaeological traces of the Greek classic era. The Eastern and Western part of Sicily appear to be significantly different by the χ2-analysis, although the extent of such differentiation is not very high according to an analysis of molecular variance. The presence of a high number of different haplogroups in the island makes its gene diversity to reach about 0.9. The general heterogeneous composition of haplogroups in our Sicilian data is similar to the patterns observed in other major islands of the Mediterranean, reflecting the complex histories of settlements in Sicily.


genetics of Sicily (Italy), Y chromosome, short tandem repeats, haplotype, haplogroups, population genetics



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