mtDNA K

[Knovas]

I decided to create a post for haplogrop K to talk about all aspects related. So here we go:

I start mentioning the Basques. Today there is not much presence of haplogroup K in them, I think less than 5%. However, it seems that prehistoric Basques had higher levels of this haplogroup, reaching more than 17% if I remember well. So my first related question is:

Any idea about the K subclades of ancient and/or actual Basques?

[Knovas]

I found this site talking about Haplogroup K: http://web.comhem.se/lienn/dnamtdna.htm

Interesting to read "Ancient DNA", where talks about the presence of K in ancient Basques. Also, note that there is information taken from Eupidia, but not this one.

Nothing about K subclades for the moment.

[sparkey]

I don't know how they conclude that K was in Basques in the Paleolithic, do you understand their methods? The oldest K found so far in Europe was found in an LBK site, ca. 5500 BC (Neolithic), in Germany, followed closely by the ca. 5300 BC Moravian sample they site. The site you linked says this:

MtDNA haplogroup K was very frequent in 4,000 to 5,000 year old Basque skeletons, at 20%.

I don't know what they're referring to there. The Basque ethnicity isn't that old... it developed from Aquitanian since then, which also probably isn't that old.

[Knovas]

I supose they take the samples as "Basque" because they found them in the Basque Country, so no better way to call it. Looking down the page you can read information about the suposed samples like this:

mtDNA K found in megalithic site from 3300BC to 3000BC in San Juan Ante Portam Latinam, Araba, Spain ( 14 samples. Source Izagirre and de la Rúa 1999)
mtDNA K at San Juan Ante Portam Latinam, Araba, Basque country 3300-3042 BC 14 samples ( Izagirre and de la Rúa 1999 )

...and there are others listed.

I checked 23andme information of K (History), and they say quite the same. Ancient Basques not less than 17%, and actual Basques less than 5%.

I find this interesting, but I don't know if it's really true. That's why I asked and, of course, if somebody knows concrete and reliable information, will be Wellcome.

[Knovas]

Here is the full information given at 23andme (where also appears the Basque reference). Copy paste:

Introduction K branched off haplogroup U8 about 35,000 years ago. It continues to have a strong presence in the region today, reaching levels of 20% among Druze Muslims and about 10% among Kurds, Palestinians and Yemenites. It is also found among the Gurage of Ethiopia, who are thought to be descended from Arabian invaders.
K spread from the Near East into Europe about 15,000 to 12,000 years ago, as the Ice Age was ending and temperate forests spread over the previously frigid continent. It is still found at low levels in most European populations, where many branches of the haplogroup match identical ones from the Near East. That close similarity suggests that more recent migrations also may have carried haplogroup K from the Near East to Europe, perhaps in conjunction with the spread of agriculture about 8,000 years ago.
Haplogroup K also extends into Central Asia as far as the Altay Mountains, a range that runs along the western edge of Mongolia's Gobi Desert. It may have reached there with relatively ancient migrants from the Near East, and then been spread to other parts of Asia during the medieval expansion of the Turkic peoples to the Urals and modern-day Turkey.
Altogether there are dozens of unique branches within this haplogroup, including some of unknown distribution. However, a few populations carry branches of haplogroup K that have been extensively characterized.
The Ancient Basques Geneticists have taken a great interest in the Basques of far northern Spain because of their unusual language, which suggests they descend from some of the original settlers who arrived in southwestern Europe during and after the Ice Age. Though haplogroup K is relatively rare among the Basques today, mitochondrial DNA extracted from prehistoric burials suggests it was much more common in the past. In remains excavated from three cemeteries dating to between 4,000 and 5,000 years ago, haplogroup K showed up at levels of 17 to 24%. A similar sample from a medieval Basque cemetery found that by around 1,500 years ago the haplogroup's levels had fallen to its present-day level of about 4%.
What could account for this near-disappearance of haplogroup K among the Basque? It could be that female migrants to the region married into the Basque population, swamping out the K lineages with their own haplogroups. Or it could be that the Basque population experienced a crash at some time in the past that disproportionately eliminated haplogroup K from the gene pool.
K in the Ashkenazi A few branches of haplogroup K, such as K1a9, K2a2a, and K1a1b1a, are specific to Jewish populations and especially to Ashkenazi Jews, whose roots lie in central and eastern Europe. These branches of haplogroup K are found at levels of 30% among Ashkenazi. But they are also found at lower levels in Jewish populations from the Near East and Africa, and among Sephardic Jews who trace their roots to medieval Spain. That indicates an origin of those K haplogroup branches in the Near East before 70 AD, when the Roman destruction of Jerusalem scattered the Jewish people around the Mediterranean and beyond.
About 1.7 million Ashkenazi living today – about 20% of the population – share a single branch of the K haplogroup, K1a1b1a. The diversity of that haplogroup among Ashkenazi suggests that it arose in the Near East between 2,000 and 3,000 years ago, and that everyone who shares it today could have shared a common ancestor as recently as 700 years ago. A similar pattern in two other K branches that are common among the Ashkenazi, K1a9 and K2a2, as well as the N1b branch of haplogroup N, has led researchers to conclude that 40% of the Ashkenazi living today – about 3.4 million people – could descend from as few as four women who lived within the last 2,000 years.
Historical information supports that conclusion. The Ashkenazi tradition traces back to a small number of people who migrated from northern Italy to the Rhine Valley of Germany around 700 AD, then grew over the next 1,300 years to a population of more than 5 million.
Ötzi the Ice Man Ötzi the Ice Man was discovered in 1991, protruding from a snow-bank high in the Alps near the Austrian-Italian border. His 5,300-year-old remains turned out to be so well preserved that researchers were able to construct a detailed account of his life and death. They have also determined that his maternal line was derived from haplogroup K, which remains common in Alpine populations today.
Chemical analysis of Ötzi's teeth indicates he came from the Italian side of the Alps. He had suffered during the year before his death with whipworm, a stomach parasite that was found in his digestive tract. Yet he was fit enough to climb 6,500 feet in elevation during the day or two before he met his end in a rocky alpine hollow – pollen grains mixed in with the food in his colon, which included red deer and Alpine ibex meat as well as wheat and barley, show that his last few meals were consumed at a much lower elevation than the site where he died, and that they were eaten during the spring.
Ötzi apparently was murdered, struck by a stone arrow point that was found lodged in his left shoulder. The twisted position of his body indicates that the murderer, or one of his accomplices, pulled the arrow's shaft out of Ötzi's prone body – perhaps to remove evidence of the killer's identity from the scene of the crime. Yet whoever killed Ötzi did not take the valuable and finely wrought copper axe that he carried with him – an indicator that at the age of 45, the Ice Man may have been a figure of some importance in his community.
Recently, scientists who were able to extract mitochondrial DNA from Ötzi's remains discovered that it belonged to haplogroup K, which reaches levels of 20 to 30% in present-day local populations. But Ötzi's mitochondrial DNA, which fell into the K1 family of haplogroup K, did not match any of the branches that are known today. His maternal line must have died out in the 5,300 years since Ötzi's death.
Ötzi's paternal line may very well have died out as well – his mitochondrial DNA contains two mutations that are associated with low sperm motility, so he could have been infertile. We can imagine that at the age of 45, with a prominent position in his community but no heirs to support him, Ötzi might have found himself high in the Alps on a chilly spring day 5,300 years ago desperately fleeing his enemies.

[Emi]

Any idea where K1 is the most concentrated in relation to old civilizations? My 23andMe results could not identify a subclad. My grandmother's from Trabzon on the Black Sea Coast of Turkey. I have found mtDNA data/research to be scarce for this region and there were mass population moves starting mid-19th century.

My maternal side is distinctively small in stature, with an equal mix of blondes, brunettes, fair/medium skin tone and green/blue/hazel eyes. We always assumed she was "Laz", but that term is often indiscriminately applied to people from that area.

[Knovas]

K1 is quite common all around the Caucasus and the near east, so for a Turk is not rare in any case. Note that this branch is an old one in haplogroup K, so the most logical thing is find it at higher frequencies near its ancestral place (the near east). Probably plain K1a or K1b are much more extended there, since this old clades have being replaced by other groups. It is also possible to find plain K1 in some Europeans at very low frequencies.

Time ago, I found a Turk who was K1b1, wich is the previous clade to get K1b1a. I find it curious, I don't know how much time was required to generate this last clade, but the first it seems that still was near the caucasus, and the next one originated in Europe.

[Deirdre]

This is fascinating, exotic, incredible stuff but my K ancestry seems far less romantic. As a family that knows its farming roots were in the same few parishes of the Buchan area of north Aberdeenshire, Scotland, I was a bit surprised to be a "Katrine" - has anyone any idea when this maternal clan reached northern Scotland. My mtDNA code is given as 224 311 325 but, as until very recently, I was a DNA virgin, I find subclades a bit confusing but am a fast learner! AZny comments or info please!

[Knovas]

I don't know what those numbers are...perhaps some STR's (I'm not versed on this). K is not rare in the UK and Ireland as far as I know, it's quite widespread for all Europe (5-6% almost everywhere).

Some subclades I observed in 23andme participants from the UK are: K1a10, K1b1a1 and K1a4a1

Those three are very representative from the region, and also different K2b's are quite present. Plain K1a must be considered too, but this one reaches higher frequencies in the near east, althought it's not uncommon in Europe. Is your subclade something similar to what I say?

It's a bit difficult to say when your own linage (unknown right now) arrived to Scotland. But surely the presence of K in the UK could be quite ancient in most cases...thousands of years ago.

[Knovas]

Sorry if I can't concrete more, but it's very difficult to associate K subcaldes with regions because, as I said, K it's very widespread. If I mentioned those 3 and K2b's it's becuase they seem to be a bit more frequent there than in other places. At least, that's what I saw in quite people of English, Scotish, Cornish, etc. descent. I am K and usually want to share with other's who are too, trying to find, of course, people with the most similar subclade to mine as possible.

In google it's easy to find maps, however, most of them aren't accurate. Probably searching by subclade at Family tree is the best option to get an Idea, since you can see participants listed in different geographical points.

[Knovas]

Although it's possible some things could be wrong, here is the Tree listed in Wikipedia and the reference:

Tree

This phylogenetic tree of haplogroup K subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variationand subsequent published research.

mtDNA HG "K" p-tree

• U8b'K
  
  • 
    
    • U8b
    • K
      
      • K1
        
        • K1a
          
          • K1a1
            
            • K1a1a
              
              • K1a1a1
              
              
            • K1a1b
              
              • K1a1b1
                
                • K1a1b1a
                • K1a1b1b
                
                
              • K1a1b2
                
                • K1a1b2a
                
                
              
              
            
            
          • K1a2
            
            • K1a2a
            • K1a2b
            
            
          • K1a3
            
            • K1a3a
              
              • K1a3a1
              • K1a3a1a
              
              
            
            
          • K1a4
            
            • K1a4a
              
              • K1a4a1
                
                • K1a4a1a
                • K1a4a1b
                
                
              
              
            • K1a4b
              
              • K1a4b1
              
              
            • K1a4c
            • K1a4d
            
            
          • K1a5
          • K1a6
          • K1a7'8
            
            • K1a7
            • K1a8
              
              • K1a8a
              
              
            
            
          • K1a9
          • K1a10
          • K1a11
          • K1a12
            
            • K1a12a
            
            
          
          
        • K1b
          
          • K1b1
            
            • K1b1a
              
              • K1b1a1
              
              
            • K1b1b
            • K1b1c
            
            
          • K1b2
            
            • K1b2a
            • K1b2b
            
            
          
          
        • K1c
          
          • K1c1
            
            • K1c1a
            • K1c1b
            
            
          • K1c2
          
          
        • K1ö
        
        
      • K2
        
        • K2a
          
          • K2a1
            
            • K2a1a
            
            
          • K2a2
            
            • K2a2a
            
            
          • K2a3
          • K2a4
          • K2a5
          • K2a6
          
          
        • K2b
          
          • K2b1
            
            • K2b1a
            
            
          
          
        • K2c
        
        
      
      
    
    
  
  

[Knovas]

As usual, there's little or no information for the vast majority of clades. However, I discovered an interesting thing:

I was having a look to the Harappa Ancestry Project, and found this Spreadsheet with ethnic information concerning the participants.

https://docs.google.com/spreadsheet/...1E&hl=en#gid=0

It came to my attention the Georgian listed as K1b1c. I tried searching by haplogroup using MitoSearch, but the subclade is not available there, so it seems there aren't much cases reported. We can especulate this one is native to the Caucasus for the moment, but who knows.

Focussing on both K1b1a's, at least, all cases I know are European descent. But there's no information about K1b1b, and this only known case of K1b1c has the mentioned background. Well, it's curious, we'll see if something new comes out.

[Kardu]

As usual, there's little or no information for the vast majority of clades. However, I discovered an interesting thing:

I was having a look to the Harappa Ancestry Project, and found this Spreadsheet with ethnic information concerning the participants.

https://docs.google.com/spreadsheet/...1E&hl=en#gid=0

It came to my attention the Georgian listed as K1b1c. I tried searching by haplogroup using MitoSearch, but the subclade is not available there, so it seems there aren't much cases reported. We can especulate this one is native to the Caucasus for the moment, but who knows.

Focussing on both K1b1a's, at least, all cases I know are European descent. But there's no information about K1b1b, and this only known case of K1b1c has the mentioned background. Well, it's curious, we'll see if something new comes out.

I know this person, and he is native Georgian :)

[Knovas]

I saw you are in the project too. Don't know if one day I'll send my data, but for what I've seen it doesn't look much helpful for Europeans.

It would be interesting to see if starts appearing substantial K1b1c between Europeans, or substantial K1b1a between Georgians or other Caucasians. We know very little at the moment...no need to say K1b1b, I've never seen one LOL.

[Kardu]

I saw you are in the project too. Don't know if one day I'll send my data, but for what I've seen it doesn't look much helpful for Europeans.

It would be interesting to see if starts appearing substantial K1b1c between Europeans, or substantial K1b1a between Georgians or other Caucasians. We know very little at the moment...no need to say K1b1b, I've never seen one LOL.

I am curious to discover the connections between Caucasians and Kalash and IndoAryans in general. There were some sources pointing to that direction and now the genetics seems to confirm those :)
This K1b1b is the first and the only one so far we are aware of, so we were very excited too :)

[Knovas]

¿Really Kardu? ¿Are you saying that there are clues pointing that K1b1b is present in both Caucasians, Kalash, and other IndoAryans? If I understood well, you seem to know some cases :) ¡that would be great!

But there's still a question mark about this K1b1c, and also K1b1a. ¿Is K1b1c shared between Europe and the Caucasus or just present in ethnic Caucasians (and probably Anatolians)? and ¿Are K1b1a's exclusive for Europe? The answer to the last question seems to be YES, since both K1b1a and K1b1a1 are only found in Europeans, although it's not sure considering the lack of Caucasian data. And to say something about the first one, It's even more difficult, it's the first individual I know having such marker.

[Kardu]

¿Really Kardu? ¿Are you saying that there are clues pointing that K1b1b is present in both Caucasians, Kalash, and other IndoAryans? If I understood well, you seem to know some cases :) ¡that would be great!

But there's still a question mark about this K1b1c, and also K1b1a. ¿Is K1b1c shared between Europe and the Caucasus or just present in ethnic Caucasians (and probably Anatolians)? and ¿Are K1b1a's exclusive for Europe? The answer to the last question seems to be YES, since both K1b1a and K1b1a1 are only found in Europeans, although it's not sure considering the lack of Caucasian data. And to say something about the first one, It's even more difficult, it's the first individual I know having such marker.

Sorry, I haven't specified. Unfortunately, there are no such clear clues referring to K1b1 etc. What I meant that there were historical and linguistics sources, ethnonimes pointing to possible migration of some Caucasian tribes to the south-east. Current autosomal and Y-DNA evidence also strengthened this hypothesis.
Georgian K1b1c so far is unique and we don't know much about it :) Sorry to disappoint

[Knovas]

Oh! Ok, I was very surprised to find this. Then, there's still no data of K1b1b people. And you are right, a K1b1c is really unique (first very well reported case), the most similar thing I found was a Turk being K1b1.

Since the mentioned finding, my idea (but it's only especulation) is that plain K1b and K1b1 might originated somewhere in Anatolia, and Spread with R1b people from there to different regions. The possibility is contempled while reading this in Eupedia about haplogroup K: The Indo-Europeans from Anatolia could also have contributed to the propagation of K.

I think that's how it happened, also the R1b information strongly links it with Anatolia. So depending on the migration place, different clades appeared, having finally K1b1a's origins in Europe, and the other two possibly evolved in the east, and could still have substantial presence among Caucasians and other IndoAryans, but must be confirmed with more samples. I personally don't expect much K1b1b and K1b1c between Europeans, because considering that a lot of European people has tested, there should be at the moment some relevant information about it, which is absent.

That's the main point makes me think like this, so the possible surprise would be if the new K results from West Asian peoples show substantial K1b1a. That would mean all origins must be focussed in the East, but my impression is that it's unlikely.

[Knovas]

More recent information about K. It's really interesting, because it gives us a clue about which clades are more linked to the Near East, and hence, to the Neolithic Farmers. It also seems (as pointed by 23andme too), that most branches of K are pretty old in Europe, and could arose in Southern Europe during the last glacial period.

Concerning plain U8, my perception is that this haplogroup could had been dominant among ancient Cro-Magnons. The following article estimates that U8 was probably linked with the first humans inhabiting Europe, aproximately 50.000 years ago.

[Knovas]

SMBE 2012 abstracts, from Dienekes' blog: http://dienekes.blogspot.com.es/


The Neolithic trace in mitochondrial haplogroup U8

Joana Barbosa Pereira 1,2 , Marta Daniela Costa 1,2 , Pedro Soares 2 , Luísa Pereira 2,3 , Martin Brian Richards 1,4 1 Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK, 2 Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal, 3 Faculdade de Medicina da Universidade do Porto, Porto, Portugal, 4 School of Applied Sciences, University of Huddersfield, Huddersfield, UK

The mitochondrial DNA (mtDNA) still remains an important marker in the study of human history, especially if considering the increasing amount of data available. Among the several questions regarding human history that are under debate, the model of expansion of agriculture into Europe from its source in the Near East is still unclear. Recent studies have indicated that clusters belonging to haplogroup K, a major clade from U8, might be related with the Neolithic expansions. Therefore, it is crucial to identify the founder lineages of the Neolithic in Europe so that we may understand the real genetic input of the first Near Eastern farmers in the current European population and comprehend how agriculture spread so quickly throughout all Europe. In order to achieve this goal, a total of 55 U8 samples from the Near East, Europe and North Africa were selected for complete characterisation of mtDNA. A maximum-parsimonious phylogenetic tree was constructed using all published sequences available so far. Coalescence ages of specific clades were estimated using ρ statistic, maximum likelihood and Bayesian methods considering a mutation rate for the complete molecule corrected for purifying selection. Our results show that U8 dates to ~37-54 thousand years ago (ka) suggesting that this haplogroup might have been carried by the first modern humans to arrive in Europe, ~50 ka. Haplogroup K most likely originated in the Near East ~23-32 ka where it might have remained during the Last Glacial Maximum, between 26-19 years ago. The majority of K subclades date to the Late Glacial and are related with the repopulation of Europe from the southern refugia areas. Only a few lineages appear to reflect post glacial, Neolithic or post-Neolithic expansions, mostly occurring within Europe. The major part of the lineages dating to the Neolithic period seems to have an European origin with exception of haplogroup K1a4 and K1a3. Clade K1a4 appears to be originated from the Near East where it also reaches its highest peak of diversity. Despite the main clades of K1a4 arose in the Near East during the Late Glacial, its subclade K1a4a1 dates to ~9-11 ka and is most likely related with the Neolithic dispersal to Europe. Similarly, K1a3 probably originated in the Near East during the Late Glacial and its subclade K1a1a dispersed into Europe ~11-13 ka alongside with the expansion of agriculture.

Late Glacial Expansions in Europe revealed through the fine-resolution characterisation of mtDNA haplogroup U8

Marta Daniela Costa 1,2 , Joana Barbosa Pereira 1,2 , Pedro Soares 2 , Luisa Pereira 2,3 , Martin Brian Richards 1,4 1 Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK, 2 IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal, 3 Faculdade de Medicina, Universidade do Porto, Porto, Portugal, 4 School of Applied Sciences, University of Huddersfield, Huddersfield, UK

The maternally inherited and fast evolving mitochondrial DNA (mtDNA) molecule is a highly informative tool with which to reconstruct human prehistory. This has become even more true in recent years, as mtDNA based studies are becoming more robust and powerful due to the availability of complete mtDNA genomes. These allow better mutation rate estimates and fine-resolution characterisation of the phylogeography of mtDNA haplogroups, or named clades. MtDNA haplogroup K, the major subclade of U8, occurs at low frequencies through West Eurasian populations, and is much more common in Ashkenazi Jews. However, the lack of variation on the first hypervariable segment (HVSI) has precluded any meaningful phylogeographic analysis to date. We therefore completely sequenced 50 haplogroup K and 5 non-K U8 mtDNA samples from across Europe and the Near East, and combined them with 343 genomes previously deposited in GenBank, in order to reconstruct a detailed phylogenetic tree. By combining several inference methods, including maximum parsimony, maximum likelihood and Bayesian inference it was possible to trace the timescale and geography of the main expansions and dispersals associated with this lineage. We confirmed that haplogroup K, dating to ~32 thousand years (ka) ago, descended from the U8 clade, which coalesces ~48 ka ago. The latter is close to the timing of the first arrival of modern humans in Europe and U8 could be one of the few surviving mtDNA lineages brought by the first settlers from the Near East. U8 split into the widespread U8b, at ~43 ka, and U8a, which seems to have expanded only in Europe ~24 ka ago. Considering the pattern of diversity and the geographic distribution, haplogroup K is most likely to have arisen in the Near East, ~32 ka ago. However, some subclades were evidently carried to Europe during the Last Glacial Maximum (LGM). We observed significant expansions of haplogroup K lineages in the Late Glacial period (14-19 ka), reflecting expansions out of refuge areas in southwest and possibly also southeast Europe.

[Keegah]

Do you know by any chance what populations K1c2 is primarily found in? 23andme has been very uninformative. My maternal family came from England, if that's of any assistance.

[Knovas]

Hi Keegah,

We need more samples and research concerning K and all its subclades, however, I think this link could be helpful for you: http://www.mitosearch.org/haplosearc...&submit=Search

There are just a few K1c2 samples at family tree, don't know if you found others at 23andme. As you can see, most of these results belong to people of English and Irish descent, and also people from the USA (likely White Americans with similar ancestry). It seems K1c has a more Northern distribution, although It's very surprising to find a K1c2 from Algeria...I really don't know what to think of this one.

To my experience, European subclades of K use to be quite widespread, and most times don't have representative presence anywhere. What seems to be clear is that K is part of Europe from at least the last glacial age in the Southern regions, despite the fact there are other subclades with Neolithic or post-Neolithic origins identified in the mentioned article: K1a4a1 and K1a1a (both not rare in Europe nowadays), are the result of previous late migrations from the Near East, while yours, mine, and many others, emerge from the earliest migrations of K from the Near East according to the data.

[kamensky77]

I'm also a k1c2 mtdna haplogroupe so I'm the first from Hungary and second from Slovakia.

I'm new here and write with tablet. Greetings

[mart]

Hi ... newbie here!

Just received maternal DNA results back .... unintelligible mostly!!

Apparently am haplogroup K2b1a... ?!?!

Theres a lot of discussion re K1 here... anyone have any info or links to K2b1a origins?

Particualrly interested to know if there are links to Spain, Israel, Persia as me and my siblings feel a definite pull towards these areas ...more than Ireland!

Best
M

[adamo]

Mtdna K is characteristically of east European Ashkenazi Jewish women. It's found in 33% of Ashkenazi Jews and 17% in kurdistan, for example.