The maps below are based on three genome-wide SNPs showing high correlation with blue and green eyes and/or fair hair in Europeans. The results obviously suggest that there's an increase in hair and eye blondism from south to north in Europe, with clear peaks east of the Baltic Sea. The three SNPs are rs1667394 (HERC2 gene), rs12913832 (OCA2 gene), and rs12896399 (SLC24A4 gene).
Indeed, I'm a bit taken aback by the very high rate of suggested blondism among the Belorussians and Mordvinians (second highest dot in Russia). This might have something to do with sampling bias. Perhaps most of the 12 Belorussians and 16 Mordvinians used here came from fairer than average communities within their respective nations? I have no idea. In any case, I don't think the picture is too far from reality, because multiple sampling sites from the same general biogeographic zones, but several hundred kilometers apart, are showing very similar results. This can't be a coincidence.
It's also interesting to note that the East Baltic peak in blondism genotypes correlates closely with the North + East European genome-wide ancestral component in my latest ADMIXTURE experiment (see here). Perhaps this is where natural selection for these traits was most extreme due to very specific environmental pressures, like lack of sunlight? Maybe this is also where these traits spread from, either gradually or during one or several major migrations? Someone should look into that. Meantime, I'll try and update this post with new maps as more samples come in.
One of the biggest hits of the year for this blogger was the discovery of Y-DNA haplogroup R1a among three Corded Ware skeletons from a burial site in Eulau, eastern Germany. It's an important result, because it links one of Europe's most dominant Y-haplogroups to a major Late Neolithic archeological complex.
All three individuals were confirmed to be paternally related via their shared Y-STR haplotype. Nevertheless, the outcome appears far from a random coincidence. Consider that in Europe today R1a shows its highest frequencies in Poland and Western Russia, which are both located in former Corded Ware territory, and where the Eulau R1a haplotype appears to have its closest modern matches. Moreover, the Corded Ware culture is often classified as an Indo-European culture by archeologists and linguists, while at the same time R1a has been posited as a marker of the early Indo-Europeans by some geneticists. Needless to say, I'm expecting R1a to be a common, and perhaps dominant marker among Corded Ware samples when more of them make it to the lab.
The consensus haplotype of the three individuals (based on most complete profile) gave two exact matches in in an European population sample of 11,213 haplotypes in a set of 100 populations (as of July 2008, Release ‘‘23’’ from 2008–01-15 14:44:25): one individual from Poland (1/939 from Gdansk) and one from Russia (1/48 from Tambov).
...
The Y haplotype was predicted using the Web-based program Haplotype Predictor (9). The three individuals of grave 99 belong to
haplotype R1a, with a probability of 100% based on the Y-STR profile of individual 3 (10). To confirm haplogroup status, we
further amplified an 85-bp fragment covering the Y-SNP marker SRY10831.2 characteristic for R1a (11). Primer sequences are
given in Table S6. Sequences and sequenced clones from independent extract of all three individuals show the specific G to A transition identifying R1a (Fig. S5).
The mitochondrial DNA (mtDNA) lineages of the Eulau skeletons belonged to haplogroups K1b (3), X2 (2), H, I, K1a2, and U5b. Most of these maternal markers aren't particularly common in Europe today, and the overall result appears decidedly unusual compared to the mtDNA frequencies of modern European populations, largely because of the low frequency of H.
I'm quite certain this is at least partly due to the small sample size and presence of several related individuals skewing some of the frequencies. However, it's interesting to note that this pattern of discontinuity between mtDNA gene pools from different time periods has also been reported in other studies, some with larger samples, and focusing on different regions of Europe. So it might well be a signal of significant shifts in mtDNA frequencies during European prehistory and early history, possibly as a result of major migrations leading to significant population replacements.
Interestingly, one of the ancient K1b lineages most closely matched a haplotype shared by two modern Shugnans from Tajikistan. Exactly how the Corded Ware individual is related to these two Central Asians isn't clear yet, but Shugni is an Indo-Iranian language, so some kind of early Indo-European relationship is possible.
Citation...
Wolfgang Haak et al, Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age, PNAS, Published online before print November 17, 2008, doi:10.1073/pnas.0807592105
