R1b founder effect in Central and Western Europe

Post will be updated after I read the paper. (Last Update: Aug. 29)

UPDATE I:

From the paper:

The ages of various haplogroups in populations were estimated using the
methodology described by Zhivotovsky et al,30 modified according to Sengupta
et al,10 using the evolutionary effective mutation rate of 6.9 x 10^-4 per 25 years.
The accuracy and appropriateness of this mutation rate has been independently
confirmed in several deep-rooted pedigrees of the Hutterites.

Of course readers of the blog are aware that I disagree with the use of the evolutionary rate. My comments on the Hutterites paper will be posted separately after I read it. I will simply say that there are numerous cases where the use of the genealogical rate makes better sense of the evidence than use of the "evolutionary" rate. Off the top of my head, the genealogical rate harmonizes with the Genghis Khan cluster, the expansion of Na-Dene speakers into the Americas, the expansion of Balto-Slavic, the Bronze Age spread of Semitic speakers, in accordance with the linguistic evidence, the expansion of Bantu in Angola, more recent British surnames, the formation of Arabian kingdoms, Greek colonization of Sicily, and the Bronze Age origin of Indo-Aryans and Finno-Ugrians (and I skipped a few).

UPDATE II (Aug 26):

Here is the phylogeny of R-M207 from the paper. For reference, the R-M207 page from ISOGG.


UPDATE III (Aug 26):

Going through the material in this paper in a systematic manner is not easy, so I will probably do a potpourri of updates covering various topics of interest.



As noted in the other recent paper, and shown in the above Figure from the current one, R-U106 peaks in northern Europe. Its frequency (including the R-U198 sublineage) is 36.8% in the Netherlands, 20.9% in Germany and Austria, 18.2% in Denmark, 18.2% in England, 12.6% in Switzerland, 7.5% in France, 6.1% in Ireland, 5.9% in Poland, 5.6% in north Italy 4.4% in Czech Republic and Slovakia, 3.5% in Hungary, 4.8% in Estonia, 4.3% in south Sweden, 2.5% in Spain and Portugal, 1.3% in eastern Slavs, 0.8% in south Italy, 0.6% in Balkan Slavs, 0.5% in Greeks (i.e. 2 of 193 Cretans, and no mainland Greeks), 0.4% in Turks, 0% in Middle East.

The age of R-U106 is estimated by the authors as 8.7ky BP, which translates to about 2.5ky BP with the germline rate. The existence of R-U106 as a major lineage within the Germanic group is self-evident, as Germanic populations have a higher frequency against all their neighbors (Romance, Irish, Slavs, Finns). Indeed, highest frequencies are attained in the Germanic countries, followed by countries where Germanic speakers are known to have settled in large numbers but to have ultimately been absorbed or fled (such as Ireland, north Italy, and the lands of the Austro-Hungarian empire). South Italy, the Balkans, and West Asia are areas of the world where no Germanic settlement of any importance is attested, and correspondingly R-U106 shrinks to near-zero.

UPDATE IV (Aug 26):

Another informative lineage, as noted in the other recent paper as well is R-U152:


Of interest is the fact that while R-U152 has a clear French-Italian center of weight, the locations exhibiting highest STR variance are Germany and Slovakia, i.e., Central Europe. My guess is that R-U152 originated in Central Europe spreading to the west and south, perhaps with Italo-Celtic speakers or some subset thereof. In its home territory of Central Europe, its frequency decreased by the introduction of the Germanic and Slavic speaking elements which dominate the region.

Irrespective of what the ultimate origin of R-U152 is, it provides us with a good diagnostic marker for population movements out of the French-Italian area. In Italy for example it is noted at 26.6% for the north and 10.5% in the south. It would be extremely interesting to see its occurrence in Balkan Vlachs, as this would confirm/disprove the Italian component in their origin. However, R-U152 occurs in 7.3% of Cretans, suggesting introgression Y-chromosomes of North Italian (Venetian) origin, from the 4-century period of Venetian rule of the island. It also occurs in 4.1% of Greeks, where it might come from any period since the Roman annexation of the Hellenistic states to the Vlachs. However, its presence at only 1.8% of Romanians makes a large Italian contribution to the Romanian population unlikely. Balkan R-U152 chromosomes should be better resolved to determine when they arrived from the northwest.

The paucity of R-U152 in Turks (0.6%) make tales of wandering Galatians less likely to be true. There is no doubt that Galatians settled in Anatolia, but they were probably so few in numbers that they did not permanently alter the population. Knowledgeable readers should chime in about the Lebanese Christian R1b which was posited as a signature of the Crusades a couple of years ago, and its position in the phylogeny.

UPDATE V (Aug 26):

The most commong R1b subgroup in Europe is R-M269 and the most common subgroup is R-L23 which encompasses the vast majority of European R-M269 chromosomes. It is interesting to see where R-M269(xL23) is concentrated. In Europe I see cases in Germany, Switzerland, Slovenia, Poland, Hungary, Russia, the Ukraine. It is most prominent, however, in the Balkans, where every population except Croatia mainland (N=108) possesses it. In the Caucasus it does not exist except in the northeast. In Turkey and Iran there is some, albeit it is not clear in which regions.

UPDATE VI (Aug 27):

The authors write with respect to haplogroup R-V88:

With the exception of rareincidences of R1b-V88 in Corsica, Sardinia13 and Southern France(Supplementary Table S4), there is nearly mutually exclusive patterning of V88 across trans-Saharan Africa vs the prominence of P297-related varieties widespread across the Caucasus, Circum-Uralic regions, Anatolia and Europe. The detection of V88 in Iran, Palestine and especially the Dead Sea, Jordan (Supplementary Table S4) provides an insight into the back to Africa migration route.

Haplogroup R-V88 has been the subject of a recent study and was associated with the migration of Chadic speakers in Africa. It is difficult to say whether or not the authors' results really provide any insight into an alleged movement of this haplogroup from Asia to Africa, as it occurs in only a single Palestinian, and a single Iranian. Neither is the higher frequency (13.7%) observed in the Amman and Dead Sea area of Jordan really evidence of its antiquity there.

Neither the aforementioned paper nor the current one presents any evidence (e.g., Y-STR variance) for any great antiquity of the Asian R-V88 with respect to the African one. Indeed, with the exception of the aforementioned Jordanian sample, R-V88 is rare in Asia, while it is widespread in African Berbers. I see no clear reason at present to think that it migrated to Africa from Asia, and not to think of it as a relic of an older, widely dispersed R1b population leading to R-V88 in Africa itself.

UPDATE VII (Aug 28):

The paper repeats the standard claims about the origin of R1b and its main sublineage R-M269 in Asia, but presents no new information that would support this claim. With the state of the evidence, I see no real reason to prefer a West Asian to a Southeastern European origin for this haplogroup.

I don't give much credence to small differences in Y-STR variance, due to the large confidence intervals associated with such estimates, and it is interesting that the authors do not present an argument from Y-STR variation about the origin of R1b, preferring to make broad statements about Mesolithic-Neolithic movements into Europe.

A study of supplementary table S2 which gives coalescent times reveals that there is no clear pattern of greater Asian diversity within haplogroup R1b or its subclades. And, while Central-Western Europe does appear to be an outgrowth of R1b rather than a place of origin (with the dominance of derived R-M412 lineages) there is nothing in the paper that would make one prefer West Asia to Southeastern Europe as a place of origin.

Personally I think the issue cannot be settled yet, but there are reasons to prefer the latter option. An Asian origin of R1b has a major parsimony hurdle: it would require a seemingly directed drang nach westen for R1b, into Europe, and into North Africa, with a paucity of R1b in the opposite direction (among Arabians and to the south and in South Asia) and a scattering of very young R-M73 and R-M269 to the east of Europe.

UPDATE VIII (Aug 29):

R-S116 shows maximum Y-STR diversity in France and Germany but maximum frequency in Iberia and the British Isles. In the latter region it is represented mainly by R-M529 with the R-M222 subclade being particularly prominent in Ireland but also North England. It would be interesting to see data for Scotland, and I do not doubt that R-M222 would be prominent there as well. R-S116 also shows signs of being a Celtic, or Celtiberian-related lineage.

European Journal of Human Genetics doi: 10.1038/ejhg.2010.146

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

Natalie M Myres et al.

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.

Link