Tuesday, February 16, 2016

Asia Has Five mtDNA Gene Pools

I have added over 2,000 mtDNA samples from Asia and 1,000 from Europe to my mtDNA database in the last few days. Thanks to HaploGrep I've been able to analysis the data more than twice as fast.

With the new data from Asia, I've learned that there are at least Five mtDNA gene pools in Asia. I've also found geographic diversity in East Asian mtDNA and origins of Western mtDNA in Asia.

In the next few weeks I will 1: Research the mtDNA and genome-wide relationship between ancient and modern Siberians, 2: Do more thorough work on European mtDNA with 1,000s of new samples, 3: Collect 1,000s of mtDNA samples from Africa, and 4: Collect many 1,000s of Mito-genomes from Ian Logan which I can now do very quickly thanks to HaploGrep. So, there's a lot to look forward to on this blog if you're interested in mtDNA.

This spreadsheet shows the five mtDNA gene Pools of Asia and regional haplogroups of East Asian mtDNA.

Regional Asian mtDNA

In total there are at least six mtDNA gene pools in Eurasia. Below is a link to a map of the six mtDNA gene pools of Eurasia along with the list of haplogroups in each gene pool.

Eurasian mtDNA Gene Pools

Here are mtDNA Haplogroup frequencies in Asia: Asia mtDNA Frequencies. I included frequencies of South Asian-specfic haplogroups in South Asians and the frequencies of West Eurasian haplogroups in Asia.

Geographic Diversity in East Asian mtDNA

The East Asian mtDNA gene pool is the geographically the largest in the world. Obviously they can't all have the exact same mtDNA. So, I gathered the frequencies of R9 and C subclades in this spreadsheet to find differences: C, R9. East Asia.

There are noticeable differences in subclade frequencies. The biggest is between Siberia and other East Asians. Siberians have a very high frequency of C4a1, C4a2'3'4, and C5 and all three are near non-existent in other East Asians. Tibet/Nepal also have a decent amount of those C subclades, probably because they live near Siberia.

There's also regional-trends in the frequencies of R9 subclades. The most popular R9 subclade in NorthEast and SouthEast Asia is F1a, in Siberia F1b, and in Tibet/Nepal F1c1a. As with C, Tibet/Nepal have a connection with Siberia because of a high frequency of F1b. There's also a high frequency of F4b, R9c1, and F3b in Taiwan and R9b1a in Burma, which are near non existent in other East Asians.

All other East Asian haplogroups can't easily find haplogroups with low-coverage testing, like H in West Eurasia. So, it was hard to find differences in subclade frequencies in other haplogroups, but I did find some. I wrote those differences down here: Regional Asian mtDNA

M7 has consistent strong presence in NorthEast Asia, a weaker presence in SouthEast Asia, and is pretty much unheard of in all other East Asians. M8a consistently pops up in Siberia and NorthEast Asia, and rarely anywhere else. M9a is absent in SouthEast Asia and consistently pops up in other East Asians. E is non-existent in all East Asians except Tawian where it is pretty popular. I also found many D-subclades that are exclusive to certain countries or regions.

NorthEast Asians(Japan, Korea, China) are fairly similar. Tawian and Siberia are differnt from NorthEast Asia in many ways. There are Palaeilthic-splits in mtDNA and more recent links that they have with NorthEast Asia. Nepal and Tibet have a significant amount of South Asian mtDNA, connections with Siberia, and their own unique bottle-neck lineages. Despite Tibet being in the country of China, it's important to remember they aren't Chinese at all, they were just conquered by Chinese.

Origins of Western mtDNA in Siberia and South Asia

West Eurasian mtDNA in Asia peaks in West Siberia and South Asia at about 30%. Every where else in Asia West Eurasian mtDNA is pretty much non-existent. South Asia and Siberia received their Western mtDNA from very differnt sources. Siberian's Western mtDNA is almost entirely from Eastern Europe and South Asian Western mtDNA has unknown sources.

Siberian's Western mtDNA specifically looks like it comes from Pre-Historic Russia(U4, U5a, U2e, T1a, J1b1a1). They probably have a mixture of Mesolithic Russian and Bronze age Andronovo mtDNA(J1b1a1, T1a, J1c, I, H2a1, H6). The composite of Siberian Western mtDNA, is very similar to Catacomb and Andronovo, especially because of their strangely high frequencies of U4.

Siberians also have a string of typical West Asian subclades of U; U7, U1, and U3. It is strange that they don't have a lot non-U West Asian haplogroups. Maybe there were Ancient West Asians who were mostly U7, U1, and U3 like there were ancient Europeans who were mostly U5, U4, and U2e. I doubt it, but it's possible.

South Asian Western mtDNA is dominated by U2(xU2e) and U7. The U2(xU2e) subclades are rarely found outside of South Asia, so have probably been in South Asia for 10,000s of years and not recent arrivals from West Eurasia. The sources of South Asia's U2 is likely a population closely related to Paleolithic North Eurasians, like Ma'lta boy and Kostinki man. The high amount of U7, like in some Siberians, is very strange. U7 is popular in neighbors of South Asia, like Iranians, but it isn't nearly as popular compared to other Western lineages as U7 is in South Asia. Maybe South Asia's U7 and U2 are from the same source.

Non U7 and U2 South Asian Western mtDNA is a mixture of West Asian-specific and European-specific. West Asian-specific mtDNA in my South Asian data besides U7 is includes HV and R0a. Both are more typical of SouthWest Asia than Iran, but still fairly popular in Iran. It's hard to explain the consistent presence of U5a, U4, and J1b1a1, all typical of Bronze age East Europe, in South Asia if all their Western mtDNA is from neighbors in West Asia.

Thursday, February 4, 2016

Loads of New mtDNA from Paleo-Europe

Face from a Forgotten World
Ivory carving of Human face dating about 30,000 years old from an archaeological site in the Czech Republic. mtDNA samples from this site had U5* and U8c.

Posth 2016 published several dozen new fully-sequenced mtDNA results from Stone age Hunter Gatherers of Europe(mostly Germany, Belgium, France, Italy). I've added all the results to my mtDNA DataBase. There's now well over 100 mtDNA samples from Stone age European Hunter Gatherers.

The results Posth 2016 are near 100% under haplogroup U(xK), like the results we've been getting from European Hunter Gatherers for years. The only surprise is M* dating about 30,000 years old in Belgium and France.


Short summary of the history of European mtDNA, up until 6,000 years ago.

30,000+ years ago Europe was settled by humans carrying mostly mtDNA U(U5, U2, U8, etc), but also M*, N*, and R*. Sometime between 30,000 and 15,000 years ago, U5a'b replaced other forms of U in Europe. Western Europe was dominated by U5b and Eastern Europe by U5a, U4, and U2e. No dramatic changes occurred in European mtDNA, till 8,000-6,000 years ago when humans from Turkey and Caucasus mountains brought JT, R0(inlcu. H), U, N1, X, and W.


The story of European genetics is fascinating and surprising. Modern Europeans are the result of at least two massive migrations from Asia/Far East Europe and a mixture of at least 4 distinct ancestors. They have very close ties to Middle Easterners and to a lesser extent Native Americans and North Asians. In this narrative U-dominated Paleo-Europeans are the aboriginal Europeans. They were some of the first humans to settle Europe and they lived undisturbed for 10,000s of years.