1. ¹Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy
2. ²Sorenson Molecular Genealogy Foundation, Salt Lake City, UT, USA
3. ³Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, Stanford, CA, USA
4. ⁴Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
5. ⁵Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo, Bosnia and Herzegovina
6. ⁶Genos doo, Zagreb, Croatia
7. ⁷Medical School, Split University, Split, Croatia
8. ⁸Medical School, Osijek University, Osijek, Croatia
9. ⁹Faculty of Medicine, University of Banja Luka, Banja Luka, Bosnia and Herzegovina
10. ¹⁰Forensic Laboratory and Research Center, Ministry of the Interior, Ljubljana, Slovenia
11. ¹¹Medical School, University of Tetovo, Tetovo, Former Yugoslavia Republic of Macedonia

Correspondence: Dr O Semino, Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia 27100, Italy. Tel: +39 0382 985543; Fax: +39 0382 528496; E-mail: semino@ipvgen.unipv.it

¹²Present address: Human Evolutionary Genetics, CNRS URA 3012, Institut Pasteur, Paris, France.

Received 2 September 2008; Revised 17 November 2008; Accepted 20 November 2008; Published online 24 December 2008.

Abstract

The debate concerning the mechanisms underlying the prehistoric spread of farming to Southeast Europe is framed around the opposing roles of population movement and cultural diffusion. To investigate the possible involvement of local people during the transition of agriculture in the Balkans, we analysed patterns of Y-chromosome diversity in 1206 subjects from 17 population samples, mainly from Southeast Europe. Evidence from three Y-chromosome lineages, I-M423, E-V13 and J-M241, make it possible to distinguish between Holocene Mesolithic forager and subsequent Neolithic range expansions from the eastern Sahara and the Near East, respectively. In particular, whereas the Balkan microsatellite variation associated to J-M241 correlates with the Neolithic period, those related to E-V13 and I-M423 Balkan Y chromosomes are consistent with a late Mesolithic time frame. In addition, the low frequency and variance associated to I-M423 and E-V13 in Anatolia and the Middle East, support an European Mesolithic origin of these two clades. Thus, these Balkan Mesolithic foragers with their own autochthonous genetic signatures, were destined to become the earliest to adopt farming, when it was subsequently introduced by a cadre of migrating farmers from the Near East. These initial local converted farmers became the principal agents spreading this economy using maritime leapfrog colonization strategies in the Adriatic and transmitting the Neolithic cultural package to other adjacent Mesolithic populations. The ensuing range expansions of E-V13 and I-M423 parallel in space and time the diffusion of Neolithic Impressed Ware, thereby supporting a case of cultural diffusion using genetic evidence.