Y-chromosomal evidence of the cultural diffusion of
agriculture in southeast Europe
Vincenza Battaglia1, Simona Fornarino1,12, Nadia Al-Zahery1, Anna Olivieri1, Maria Pala1,
Natalie M Myres2, Roy J King3, Siiri Rootsi4, Damir Marjanovic5,6, Dragan Primorac7,8,
Rifat Hadziselimovic5, Stojko Vidovic9, Katia Drobnic10, Naser Durmishi11, Antonio Torroni1,
A Silvana Santachiara-Benerecetti1, Peter A Underhill3 and Ornella Semino*,1
1Dipartimento di Genetica e Microbiologia, Universita` di Pavia, Pavia, Italy; 2Sorenson Molecular Genealogy
Foundation, Salt Lake City, UT, USA; 3Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford
University, Stanford, CA, USA; 4Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu,
Estonia; 5Institute for Genetic Engineering and Biotechnology, University of Sarajevo, Sarajevo, Bosnia and
Herzegovina; 6Genos doo, Zagreb, Croatia; 7Medical School, Split University, Split, Croatia; 8Medical School, Osijek
University, Osijek, Croatia; 9Faculty of Medicine, University of Banja Luka, Banja Luka, Bosnia and Herzegovina;
10Forensic Laboratory and Research Center, Ministry of the Interior, Ljubljana, Slovenia; 11Medical School, University of
Tetovo, Tetovo, Former Yugoslavia Republic of Macedonia
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 Balkanmicrosatellite 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 ofmigrating 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.
European Journal of Human Genetics advance online publication, 24 December 2008; doi:10.1038/ejhg.2008.249
Keywords: Balkan Neolithic; farming transition; peopling of Europe; Y-chromosome haplogroups