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Tuesday, March 17, 2009

European and Anatolian R1b structure

I have been recently involved in two discussions on R1b origins and structure. Some of the information I or others dug for them has helped me to make up my mind a little better on the issue.

At the moment the we know that R1b has a main subclade, dominant in Western Europe, which is R1b1b2a1. Most known R1b is R1b1b2a1* and R1b1b2a1a*. Additionally there are other upstream subclades:
  • R1b1b1, common in SE Europe, West Asia and Uyghuristan
  • R1b1a (exact location within the tree unclear), found in Lebanon and Sardinia
  • R1b1c (exact location within the tree unclear), found in Northern Cameroun (Ouldeme and others)
An important matter that arose in the discussion at Dienekes' blog was the so-called haplotype 35 (defined by DYS-393=12). This subclade actually seems to represent exclusively R1b1b2* and R1b1b2a*, excluding R1b1b2a1, which is dominated by DYS-393=13.

All this certainly suggest that, once upon a time, the ultimate origins of the haplogroup were in West Asia, but also that R1b1b2a1 must be treated as a separate reality within R1b, and that this clade most likely coalesced or at least expanded ("exploded", as its starlike structure strongly suggests) within Western Europe.

In any case, I have revisited Alonso et al, 2005 and, based on my newly acquired knowledge on ht35, reviewed my old reconstruction of the R1b tree accordingly, placing Anatolian ht35 at the root instead of the Western modal haplotype. The result is as follows:

The DYS used by Alonso, and also in the above graph, are: 19-390-391-392-393. [Note: I wrongly wrote originally 90 instead of 390, bringing confusion even to myself. My apologies and thanks to Xavier for pointing out that important error at the comments section. Corrected on Oct 11].

Like in the original version, the four haplotypes in larger type are the most common ones:
  • 14-24-11-13-12 (light blue in Alonso's map) is common in Anatolia and found at lower frequencies in SE Europe and also at small ammounts in Central-Western Europe (Germany, Belgium, Friesland).
  • 14-24-11-13-13 (red in Alonso's map) is widely distributed, being most common if anywhere among Basques. It is the modal haplotype.
  • 14-23-11-13-13 (purple-blue in Alonso's map) has mostly a northernly distribution, with highest frequencies in the Low Countries and Austria.
  • 14-24-10-13-13 (black in Alonso's map) has also a northerly distribution, especially around the North Sea, but is also found in SW Europe and even Africa and Anatolia at rather high frequencies.
I have dotted some of the possible genealogical derivations of haplotypes 14-25-10-13-13 and 14-24-10-14-13 because, having the crucial marker DYS-393=13, they seem now quite clearly within the Western R1b1b2a1 branch. Even if there may be some rare exceptions, at this point it seems that DYS-393=12 means generally R1b(xR1b1b2a1), while DYS-393=13 means R1b1b2a1. This helps a lot to clarify the haplotype structure.



[Section revised on Oct 11, after taking note of the important DYS sequence error - see above. Significatively new areas are in this color (blue)].

Checking again on the Family Tree DNA hg35 site (only the properly tested samples), I realize that they fit as follows:

  • R1b1b2* (L23-, L51-, L11-) most typical haplotype is 14-24-10-14-12, which above appears as derived "Berber/Anatolian" subclade. Also less common is 14-25-11-13-12, not registered here (though maybe listed in the supplementary materials table).
  • R1b1b2a* (L23+, L51-, L11-) most common haplotype is 14-24-11-13-12, which is the "modal" Anatolian subclade, the apparent root in the graph above. Also 15-24-11-13-12 (Middle European distribution that could mathc Neolithic spread, for some odd reason not shown in the post's graph) and others less common.
  • R1b1b2a1* (L23+, L51+, L11-) common haplotypes are 14-24-11-13-13 ("R1b modal"), 14-23-11-13-13 ("Belgium-Austria") and 14-25-11-13-13 ("Welsh"). Importantly 14-23-11-13-13 is one of the major haplotypes in Europe and seems to suggest an early divergence in Central Europe at this para-haplogroup stage.
  • R1b1b2a1a (L23+,L51+, L11+) most common haplotype is again "modal" 14-24-11-13-13. Some of the rest have 15-24-11-13-13, a small Middle European subclade. 14-24-11-14-13 is also seen in several cases at FTDNA and it's a minor Atlantic clade of Britain and Iberia. The "Scottish" (plus North Sea/Basques) major haplotype 14-24-10-13-13 also falls mostly in this haplogroup.
I am hence thinking that most R1b1b2* is maybe a distinct haplogroup (would be "R1b1b2b") and that most R1b1b2a* also (would be "R1b1b2a2"). Furthermore, after noticing the DYS numbering error, I am beginning to suspect that the Central European HT2 (14-25-11-13-13) might be symptomatic of yet another un-described haplogroup at the R1b1b2a1 level, corresponding geographically mostly to Central Europe (Danubian Neolithic?, distinct UP lineage?). I will probably need to review all the matter anyhow (but cheer up: it's always good to spot novelties, otherwise life would be boring).


Anonymous said...

Hi Maju,

Where would you place: Troost nr.51(in the R-th35 project)A4: L23+ L51+ L11+ 321- U106- on you're tree?
FTDNA results are R1b1b2a1.
DYS19 =14


Maju said...

DYS19 =14

Alonso did not use DYS-390, so, with only that info, it could be basically anything in the red area: all but three haplotypes in that set beginning with 14 and ending with 13.

Now I took a look at the specific haplotype (Troost, now number 53, not 51). It is (by Alonso's nomenclature, who used DYS: 19-90-391-392-393):



It would seem it can be the derived clade marked as "Ireland" (in magenta, what means it's not really too common anyhow): 14-25-11-14-13, that apepars derived from 14-25-11-13-13, marked as "Wales". I cannot find anything else that fits but there are many small haplotypes that were left unreported in Alonsos's work (large white areas in each cake).

Also FamilyTreeDNA does not seem o use DYS-90 (while using many other sites instead), so the comparison can only reach so far.

Xavier said...

Minor correction to your statement that "Alonso did not use DYS-390." He actually *does* use DYS390; you apparently copied something down wrong when you listed it as DYS90. I have not seen a reference to a DYS90 on any other site. I also don't believe I would go as far as to classify 14-23-10-13-13 as is a very rare sequence, with similarly frequent occurrences in Italy, Spain and Norway, among others.


Maju said...

Damnit! You are absolutely right. How come I mixed those two figures?! I'll correct tomorrow and lots of thanks.

Maju said...

Xavier: I have edited the post correcting the error. However, I might need to look at its implications in greater depth. Of particular interest is that the "Austro-Belgian" haplotype, seems to be R1b1b2a1(xR1b1b2a1a) and I'm wondering if it is in fact an untyped distinct sub-haplogroup (would be R1b1b2a1b, I guess).

I will probably review throughoutly the issue in the near future, specially as I see that a new subset may be described with R1b1b1b2a1a including some "downstream" haplotypes and part of the "modal" one.

Again, thanks a lot for your important correction. I wish someone had noticed earlier.

And my apologies to "Anonymous" for the confusion too. 14-24-?-?-13 is anyhow still a common sequence within R1b1b2a1. It could be anything. FTDNA should have tested for DYS 391 and 392, those two markers should give you a more clear picture. Though being coincident in the L11+ SNP marker tells us that it is R1b1b2a1a and hence is likely either within the "modal" or the "Scottish" lineage (but there are many smaller subclades too).

Maju said...


I also don't believe I would go as far as to classify 14-23-10-13-13 as is a very rare sequence, with similarly frequent occurrences in Italy, Spain and Norway, among others.

The geographic adscription is mostly notational, do not take it too seriously, please. I marked in blue where the haplotype was more than 20% (within R1b) and in pink where it was still significative but smaller than 20% (and used brackets when I needed to locate a clade where it was only minimally present).

However, you are right that the lineage is also present in significative amounts in other populations out of Northern Europe/Basques, like Iberians, Moroccans, Italians, etc., and I surely comitted an error or oversimplification when marking the "pink" localities (very specially I should have also marked Iberians). Scotts still seem to have the highest apportion.

It is in any case not any rare haplotype in Alonso's data. A simple look at the map (fig. 2) shows that it is rather large in many regions and one among four main haplotype subclades of West Eurasian R1b (three when we exclude Anatolia/Ht35 and two within what seems to be R1b1b2a1a - the other one would be the modal 14-24-11-13-13).

But it's not like I'm meaning at any moment that it has a Scottish origin or anything of the like, not at all, it was just a notational strategy for reference, nothing else.

brantley65 said...

Where would you place:

R1b1b2a L23+ L49+ P310- P311- P312- U106-


Maju said...


See here, it's a more clear version.

I can't discuss the haplotype unless you mention which DYS markers it refers to. It's definitively not the same order Alonso used because it only includes four markes and not five and begins with 12, which is not common at all with DYS=14.

If it's 14-25-10-13-10, then it should be a derivative from the one labelled 14-25-10-13-12.