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Comparative Study
, 5 (4), e10419

A Comparison of Y-chromosome Variation in Sardinia and Anatolia Is More Consistent With Cultural Rather Than Demic Diffusion of Agriculture

Comparative Study

A Comparison of Y-chromosome Variation in Sardinia and Anatolia Is More Consistent With Cultural Rather Than Demic Diffusion of Agriculture

Laura Morelli et al. PLoS One.


Two alternative models have been proposed to explain the spread of agriculture in Europe during the Neolithic period. The demic diffusion model postulates the spreading of farmers from the Middle East along a Southeast to Northeast axis. Conversely, the cultural diffusion model assumes transmission of agricultural techniques without substantial movements of people. Support for the demic model derives largely from the observation of frequency gradients among some genetic variants, in particular haplogroups defined by single nucleotide polymorphisms (SNPs) in the Y-chromosome. A recent network analysis of the R-M269 Y chromosome lineage has purportedly corroborated Neolithic expansion from Anatolia, the site of diffusion of agriculture. However, the data are still controversial and the analyses so far performed are prone to a number of biases. In the present study we show that the addition of a single marker, DYSA7.2, dramatically changes the shape of the R-M269 network into a topology showing a clear Western-Eastern dichotomy not consistent with a radial diffusion of people from the Middle East. We have also assessed other Y-chromosome haplogroups proposed to be markers of the Neolithic diffusion of farmers and compared their intra-lineage variation--defined by short tandem repeats (STRs)--in Anatolia and in Sardinia, the only Western population where these lineages are present at appreciable frequencies and where there is substantial archaeological and genetic evidence of pre-Neolithic human occupation. The data indicate that Sardinia does not contain a subset of the variability present in Anatolia and that the shared variability between these populations is best explained by an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool. Overall, these results are consistent with the cultural diffusion and do not support the demic model of agriculture diffusion.

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.


Figure 1
Figure 1. Comparison of haplogroup frequency percentages of the Sardinian and Anatolian Y-chromosomes.
Anatolian population data are from .
Figure 2
Figure 2. Median-joining network analysis of R-M269 haplogroup lineages.
Figure 2A: The entire 10 STR data were used. Figure 2B: The same data of 2A but excluding STR DYSA7.2. The two network comparison highlights the impact on the network topology of the number of STRs used and their informativity. (Data from Anatolian, Georgian, Balkan, North West European and Iberian populations are from .
Figure 3
Figure 3. Median-joining network analysis of haplogroup lineages common in Sardinia.
A. G-M201; B. E-M78; C. E-M123; D. J-M172 and its subclades. Anatolian population data are from .
Figure 4
Figure 4. Percentage partition of Sardinian and Anatolian Y-chromosomes in copies shared with the other population, shared within the population and not shared, i.e. present only once considering both populations.
Anatolian population data are from . Abbreviations: Anat  =  Anatolian sample, Sard =  Sardinian sample.

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