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Sunday, September 15, 2013

European-specific mtDNA C from prehistoric Ukraine

Maju points me to a thesis on ancient DNA from Ukraine which has recently become available to the public. I blogged about this paper when it was first announced in 2011, but at that time I could only access the abstract (see here). Not surprisingly, parts of the thesis are now somewhat outdated. For instance, the author suggests that Icelandic and German mtDNA haplogroup C1 lineages might have a recent Amerindian origin. However, we now know that C1 was present in Europe during the Mesolithic (see here). Nevertheless, there's still plenty of interesting reading in this report, like the comments below about the mtDNA C subclades specific to prehistoric and modern Europe.

Interestingly, the HVSI motifs present in the three Kurgan individuals appear to represent unique branches within the haplogroup C network. D1.8, L8, and L15 all branch directly from the ancestral node defined by Ya34, although D1.8 occupies a separate terminal branch from L8 and L15 (Fig. 5). This “L branch” is defined by the mutation at position 16218. L15 is separated from Ya34 by this mutation alone, whereas L8 occupies a terminal node due to its additional HVSI mutations mentioned previously (Table 4; Fig. 5). We have labeled this branch “C4a6,” since it has not been previously observed in other mtDNA studies of modern and ancient humans.


The C5 subgroup (HVSI motif 16223-16288-16298-16327) has a distinct presence in Europe. In fact, it contains a haplogroup C lineage unique to Europe, which possesses a derived mtDNA sequence type with mutations at positions 16223, 16234, 16288, 16298, and 16327. It is geographically restricted to northern Poland (Malyarchuk et al., 2002; Grzybowski et al., 2007) and northeastern Germany (Poetsch et al., 2003; Poetsch et al., 2004). This derived subcluster extends the presence of haplogroup C in Europe from the Carpathian Basin north to the Baltic coast. One individual belonging to the same European-specific lineage (except with two additional mutations) was reported in a study of Romanian Aromuns (Bosch et al., 2005) suggesting this subcluster has a persistent presence within Europe. Other examples of haplogroup C5 in Europe include another individual from Poland lacking the 16234 mutation (Malyarchuk et al., 2002) and one individual from Northern Greece with the HVSI motif 16223-16261-16288-16298 (Irwin et al., 2008). An additional member of C is located in Greece (Bosch et al., 2005) but belongs to an entirely different lineage.

Newton, Jeremy R., Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The Presence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt (2011). Masters Theses. Paper 5.


Maju said...

The map is a bit misleading because there's also Epipaleolithic C in Karelia (Desarkissian), being the oldest known East Asian lineage in Europe. It has also been reported mtDNA C in Neolithic Syria.

Another interesting element is the lack of C or any other East Asian lineage in Central Asia before the Iron Age (at least to our knowledge), what suggests that the route of arrival was via Siberia (proto-Uralic populations with Y-DNA N1).

Davidski said...

How reliable is that C result from Syria?

Maju said...

The reference is Eva Fernández 2005, which is a thesis in Spanish, fully available here: (very long, go to the "resultados" PDF and look for page 490 and subsequent, where the data is). They are HVS-I sequences but they seem to be correctly labeled as far as I can tell.

barakobama said...

Pre Pottery Neolithic Syrian sample 7,400-6,700bc had C1 like 7,500 year old sample in northwestern Russia near Finland might have the same source. The one in Finland is defintley connected with Mongliod Y DNA N1c1c(dominate in Finland), Uralic languages, and Kunda culture.

Kristiina said...

As for that Native American affinity, I found this interesting conversation on Internet:

”What interests me, personally, is that Sopka was one of the archaeological sites which Kozintsev et al. (1999) reported contained "collateral relatives" of Native Americans based upon metric and non-metric traits. It is now possible to examine the mtDNA sequences of this population. Of the 41 sequences in Molodin's study which were obtained from Sopka, 25 belonged to East Asian haplogroups C, D, Z, A & G (in that frequency order) and 16 to western Eurasian U and T. Kozintsev, however, used measurements from "late 3d or early 2nd millennium BC" and it is possible to streamline the mtDNA sequences further; only looking at those from that time (Late and Early Krotovo cultures). After removing the western Eurasian admixture, there were 8 mtDNA sequences from the Sopka archaeological site which belonged to the Krotovo culture:

Haplogroup A - 25.0%
Haplogroup B - 0%
Haplogroup C - 37.5%
Haplogroup D - 12.5%
Other Asian - 25%

The main difference between this small sample and other north Asian is the higher frequency of haplogroup A. The haplogroup A sequences determined from the entire Baraba Forest Steppe region (including one of the two Sopka Krotovo) mainly belong to A10 and A8. A10 appears to have remained in the western Siberia region (and entered Europe) but A8 sequences are found all the way to eastern Asian coast where they have been reported in Ainu, Koryak, Okhotsk, Itel'men samples.

Another interesting piece of information is that four of the haplogroup C sequences have the 16325C mutation typical of Native Americans. The earliest geneticists looking for Siberian affinities to Native Americans would have loved to have found this! At the present time, though, so many mutations have been determined to be recurrent, more evidence is required to consider sequences connected with those of Native Americans. There is no special mention of these four sequences in the text, as far as I can tell.”

The other two Baraba A haplotypes look like A4b, and they belong to Late Krotovo and Andronovo periods. A4b seems to be found in Amur area, e.g. in Evenks, and in Western Siberia in Mansi. The Baraba Late Krotovo A4b falls within the period of Kozintsev measurements.

In addition, now we know that there is C1 in Europe and there was in Karelia 7500 ypb.

Everybody wants to connect these North Asian haplotypes with yDNA N, but we should not forget that Scandinavians harbour Q1a2a1a2-L804, L805 that is under L54 together with Amerindian M3 and yDNA Q1a2b1-L527 under L940 which has a more western distribution.

I am personally highly interested in this, because I am Finnish and genetically 2% Native American.