A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe

Sorenson Molecular Genealogy Foundation, Salt Lake City, UT, USA.
European journal of human genetics: EJHG (Impact Factor: 4.35). 01/2011; 19(1):95-101. DOI: 10.1038/ejhg.2010.146
Source: PubMed


The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe. Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan. Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past ≤10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere.

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    • "Detailed protocols for analysis using biallelic markers have been reported previously (Underhill et al., 2001; Y Chromosome Consortium, 2002; Cinnioglu et al., 2004; Sengupta et al., 2006; Karafet et al., 2008;Underhill et al., 2010; Underhill et al., 2014). NRY hgs were determined following the common guidelines of the Y Chromosome Consortium and subsequent updates (Karafet et al., 2008; Underhill et al., 2010; Myres et al., 2011; ISOGG). "
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    • "Furthermore, high Hg frequency in a region is even less reliable indicator of the homeland of an SNP mutation. Strong founder effects and genetic bottlenecks often result in high Hg frequency as it proved to be in the case of R1b in Western-Europe (Myres et al. 2011) and N in Northeastern Europe (Rootsi et al. 2007). However, there are also other ways to analyse prehistoric population movements than tracking a single haplogroup migration route—for example, Y haplogroups G and J together have been associated with the spread of agriculture in Europe (Rootsi et al. 2012). "
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    • "The higher frequency of an allele and high STR variance in majority of populations in a given region may indicate that the region was the probable place of origin and/or expansion of the NRY lineage in question (Sengupta et al., 2006; Myres et al., 2011). "
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