July 25, 2012

Amateur revision of the R1b1a2a1a1 (L11) phylogeny suggests Northern origins (?)

Both peer reviewed and 100% online work... maybe more interesting than even the conclusions of this paper is the working method, with authors who have never met each other in person or even talked on the phone and who do not even have in most cases any academic credentials.

Richard A. Rocca et al., Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach. PLoS ONE 2012. Open access ··> LINK.

The authors used the data available in the 1000 Genomes project (and FTDNA samples) to refine the phylogeny of the most important Western and Central European patrilineage: haplogroup R1b1a2a1a1 (L11/S127).

The main (validated) result is figure 5:

For the nomenclature, please check ISOGG.

Highlights within R1b1a2a1a1b (P312/S116)

This lineage, the largest subclade of R1b, has, as we know, a Southwestern European distribution mostly with extension to Northwest Europe, specially Ireland and Great Britain.

  • R1b1a2a1a1b1  (DF27): mostly (71%) Iberian and Latin American. The authors think that this clade should account for the majority of previously unclassified S116(xU152,L21) reported in Iberia and some areas of France. 42/49 samples that would previously have been classified as R1b-S116(xU152,L21) fell in this category. Basque-specific M153 and generally sub-Pyrenean SRY2627 have been subsumed in this "Iberian" haplogroup.
  • R1b1a2a1a1b2  (S28/U152) is a sub-Alpine clade found mostly in Eastern France, Northern Italy, Corsica and Swizterland, sometimes confusingly dubbed the "Celtic" clade, although it looks more Ligurian-like to me if anything. 
  • R1b1a2a1a1b3  (L21/M529/S145, L459) is found specially in Ireland, Great Britain and Brittany. 
  • R1b1a2a1a1b4 (L238/S182) would be a small Nordic haplogroup, found in Scandinavia and one British individual.
  • R1b1a2a1a1b5 (DF19) would be a small British haplogroup, also previously undescribed.

If this structure is to be confirmed, the most parsimonious origin of R1b1a2a1a1b would be possibly around Belgium. We'll see if more academic data can confirm this because over-reliance on commercial testing tends to bias results toward the North, where people seems much more eager to pay for a DNA test. 

It would be however consistent with the other major subclade R1b1a2a1a1a (U106) being totally concentrated in Northern and Central Europe. No major novelties are reported in relation to this other super-lineage.

However I still require that the most important region of Europe: the French state is properly sampled and studied before jumping to any conclusions.  At the very least almost every single subclade of R1b1a2a1a1b (P312/S116) is found in the French geography, allowing for a Franco-Cantabrian refugium origin of this haplogroup. The "asterisk" category should also be revised with due care because it should hold untapped diversity.


  1. This is great news. I belong to the "asterisk" category and will look forward to any advance in knowledge about origins, migrations, etc. Hope FTDNA and the other commercial groups are able to digest this information soon.

  2. hallo
    do you speack french ?
    R1b1a2a1a1b vient il aussi de irlande?
    merci de me repondre ou de schottland ?

    1. No sorry I don't speak French with any fluidity, although if it works for you I can use another romance language such as Spanish (all is Latin after all, right?)

      Do you mean: R1b1a2a1a1b (S493/YSC0000053/Z18, Z19), which are the markers listed at ISOGG right now? Notice that nomenclature often varies but SNP markers remain.

      All I can say is that it is part of R1b-U106(xU198) and that this paragroup is common from Britain to Germany and Austria, and also other places including France, especially to the Northeast. You will need to ask someone better informed about such specificness. In any case it belongs to R1b-U106, which has a more northernly distribution and may have originated towards the North Sea.

      It is a rare lineage in Ireland though (I don't have data for Scotland but it may be a more likely origin).

  3. I just seen this lineage is from Denmark R1b1a2a1a1. Is this possible?

    1. Yeah, it's from "everywhere" (mostly West Europe). Trying to discern its underlying structure above.


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