Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

Abstract

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

“…The 15 NRPY-specific biallelic polymorphisms were found to define major haplogroups (HGs) whose phylogenetic relationships had either been previously described [4,7,8,32] or were refined in this study by using the hierarchical typing scheme (HGs 7.2, 7.3, 9.3, and 26.2 in Figure 1). For each haplogroup, a network of adjacent microsatellite haplotypes was constructed and FIGURE 1 Maximum parsimony unrooted tree of Y-chromosomal HGs.…”

“…M13 [8] was tested in all samples that carried the ancestral allele at both SRY 10831 and M9, and a few of the other samples; 4. PN3 [1,3] was tested in all YAP(Ϫ)/SRY 10831 (A)/ M9(C) and many of the others; 5. p12f2 polymorphism [7] was analyzed in all YAP(Ϫ)/SRY 10831 (G)/M9(C); 6. M12 [8] was tested in the samples that were p12f2(8kb) and some of the p12f2(10kb); 7.…”

“…A number of recent studies carried out in numerous populations have shown that most Y chromosomes can be classified into monophyletic units (haplogroups), which tend to be specific to each continent and major ethnic group [7][8][9]. This study takes advantage of this ethnic/geographic specificity to define better the origins and relationships of the populations living in the Western Mediterranean basin.…”

“…Analyses of Y-chromosome sequence variation have provided major insights in the analysis of human origins, evolution, and dispersals [1][2][3][4][5][6][7]. The nonrecombining region (NRPY) of the Y chromosome is uniparentally transmitted and escapes recombination.…”

Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics

“…31 Even the latest YHRD-data from these two countries revealed a barrier zone of two clusters of Y-chr haplotypes based on a geostatistical approach. 32 Our sampling on a micro-geographical scale shows that there is most likely no sudden strong decline of the R-U106 frequency somewhere between the Netherlands and France because of a physical or cultural border for the 'GR' and earliest (eg, 1675, 1700) data sets.…”