Thursday, March 01, 2012

Superhaplogroup UK and the U5b1b1 and U5b1e Subclusters

ח׳ באדר תשע"ב
Keowulf 10
Ash 13

I carry the mtDNA genetic marker 16270.T, one of the defining mutations for mtDNA haplogroup U5 (Clan Ursula). Interestingly, this marker is also associated with mtDNA haplogroup K (Clan Katrine).

From the article, Who are U?

When Bryan Sykes named the “Seven Daughters of Eve,” “Katrine,” the founder of haplogroup K, was on an equal level with the other six European mtDNA founding mothers. However, most charts now show K as part of a superhaplogroup UK or as just another subdivision of U. If the names were assigned now, we might be called U9 or maybe U8a. Consequently, K haplotypes sometimes also have defining mutations for one of the U’s. The two situations which have come up involve mutations 16270T (which I have) and 16356C, which are the defining mutations for U5 and U4, respectively.

So, while it's not mentioned in my preliminary results as to whether or not I have any of the defining mutations (16224C and 16311C) of haplogroup K (making it very likely that I do not have these defining haplogroup K mutations1), research shows that haplogroup K descends from haplogroup U, through a U5-U4 (UK) superhaplogroup . Many Western European Jews fit into haplogroup K, while my Eastern European Hungarian Jewish mtDNA result fits into haplogroup U5. U5 is an older haplogroup than K. So, these facts are congruent with the DNA Tribe results which say that my Jewish line is not Northwestern European, but Eastern European (Austro-Hungarian) even though Clan Ursula has strong links to Scandinavia and Celtic lands.

In parallel with all of this, though my preliminary results don't provide my subcluster of U5b, one article states some interesting information which suggests (given all my DNA results thus far), that I may fit into the U5b1b1 subcluster of U5b:

The 5656G allele, including all major subsets of U5b1, is broadly distributed both in western and eastern Europe (fig. 3A; table 4). The U5b1b subclade is found all over Europe, but it occurs in western and central Europe with notable sequence variation. The haplotype diversity (excluding subclade U5b1b1) is 0.96. We note that U5b1b was also identified in a northwestern African population, among the Moroccans. In contrast, its diversity in eastern Europe is much lower. There, the haplotype diversity (excluding subclade U5b1b1) is 0.79, whereas most of the U5b1b sequences in eastern Europe belong to the U5b1b1 branch. In the Eurasian cohort, U5b1b (other than U5b1b1) is absent from native Siberians and is notably absent from the Ob-Ugric populations and the Samoyeds.

Most importantly, the data indicate that U5b1b1, the only subcluster of U5b in the Saami population [my Sweden and Norway link], is present outside the Scandinavian-Baltic and the Volga-Uralic regions—namely, in the French, Croatian, Bosnian, Slovenian, Czech, Russian (Kyrgyzstan - mine), Ukrainian, Polish, and Hungarian (mine) mtDNA pools—and, further, is present even in the Caucasus, among the Nogay, Kabardinian, and Armenian (mine) mtDNAs.

... although the U5b1e subclade is another possibility for me - "U5b1e has polymorphisms in 152 2757 10283 12616 16189 (I carry mtDNA marker 16189.C) and has lost its polymorphism in 16192 (backmutation) ( + U5b1 polymorphisms) and arose about 6600 years ago. U5b1e is mainly seen in central Europe among Czechs, Slovaks (mine), Hungarians (mine) and southern Russians (mine through Kyrgyzstan)."

1It may still be true, that I have other genetic markers not mentioned in the preliminary results, as in the email, I was told that "our results are now in the process of being checked manually. Generally there are only minor adjustments to be made. The final results of our analysis will be sent to you ..."

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