June 20, 2011

Basque-specific mtDNA lineages

Forewarning: the maps illustrating this entry are from the discussed paper BUT they seem to fail to adequately capture the actual frequencies of the discussed clades in some areas, notably the Atlantic Islands. 

A reader points me to this paper (in Spanish with introduction in Basque):


Starting from a rather unoriginal sample (four Basque provincial samples plus Cantabrians from nearby Valle del Pas) they make some noticeable discoveries on less common mtDNA lineages. First of all they find that haplogroups U5b and J1c have their highest densities among Basques (>10%):


Regarding U5b, a particular sublineage U5b1f is mentioned as being notably frequent among Basques and also found in other sub-Pyrenean populations (Crespillo et al. 2000; Martínez-Jarreta et al. 2000; Alfonso-Sánchez et al. 2008).

The highest apportion of U5b worldwide is in Northern Navarre (15.5%).



In the case of J1c, it is mentioned in the text that a sublineage J1c2d, defined by a transition in site 16366, is common among Basques and that this particular lineage has also been found in some other populations, specifically the Irish (McEvoy et al. 2004). 

Besides these two, the most common mtDNA lineages among Basques are H1, H3 and V. Among these, this paper finds that sublineages H1j1 and V10 are notably common in the country.

Overall and based in an array of older papers, the authors feel that they must support the post-LGM recolonization theory, which would have originated from a Franco-Cantabrian refuge. However they argue that U5b1b, which has been claimed to be of similar origin for being found in remote populations such as the Berbers or Saami (Achilli et al. 2005) has not been found in their survey of (a fraction) of the Franco-Cantabrian refuge. Here I must say that while the datum is surely valid, the argument is somewhat weak however because they have not sampled all the Franco-Cantabrian refuge but just a small fraction: 2/3 of what is now France remain largely unresearched.

[Update: in the comments section, Heraus, who has deep Bearnois roots, confirms my hypothesis: U5b1b may not be found among Basques but it's found for sure among Gascons. Himself is this particular lineage].

This is something that I cannot emphasize too much: in order to understand properly European genetic correlations France, specially the southern half, must be studied properly, because the Basque Country is only a small subregion of that Franco-Cantabrian refuge and the rest of the Iberian Peninsula is not even part of it (excepted Cantabria and Asturias) but a different, less important, archaeological province.


Franco-Cantabrian province: dots indicate rock art sites, white areas are glaciers, light green is land now submerged

Update: check the supplemental material of a previous paper by the same author. I understand from this paper's text that the samples studied are the same ones.

Update (June 22):

U5b frequencies by Argiedude (synthesis of many diverse papers):

Click to enlarge. Figures in percentile points.


See the discussion for details. Importantly he argues that he is working in a diversity map but that preliminary data appears to show that U5b in SW Europe is more diverse than in Fenno-Scandia (I'd be surprised if it'd be the other way around, honestly, because this region was covered in ice until some 10,000 year ago).


Update (June 29): Argiedude has also worked out this map of U5b diversity (see comments):


Not sure what conclusions may be reached, if any.

44 comments:

  1. Not the same one. The paper mentions two other studies by the same lead author Cardoso 2011a, Cardoso 2011b, so it should be one of these.

    Whatever the case, the supp. material is surely of interest.

    ReplyDelete
  2. Yes, the supp. material surely includes the samples used here as well.

    There are some interesting details in it probably. For example, the statistically significant part of the Fst data produces that the three usable Basque samples are rather distinct among them but most similar to:

    North Navarre -> Zaragoza
    Arratia (Biscay) -> Madrid
    Goierri (Gipuzkoa) -> Pas Valley

    I imagine that the mtDNA flow corresponds to the arrows depicted above but I cannot be 100% sure.

    The most distant instead are:

    North Navarre <#> Arratia (Biscay) (0.068)
    Arratia (Biscay) <#> Pas Valley (0.091)
    Goierri (Gipuzkoa) <#> Bologna (Italy) (0.076)

    It's somewhat odd that the "opposites" are in a majority of cases, nearby neighbors. This can only have three explanations:

    1. "Statistically significant" flukes (unlikely)

    2. That each Basque sub-community have their origins in totally different groups and geographies (most unlikely)

    3. That this speaks of high diversity that spread outwards from the Basque/Franco-Cantabrian region.

    Notice that Pasiegos are said to be medieval immigrants to the area from somewhere not far but south of the mountains. You never know with these "migration" stories but if true they'd be from areas colonized mostly after the Ice Age, exactly as the people of Madrid and Zaragoza.

    Still the Arratia and Goierri samples are relatively small, so the fluke hypothesis cannot be discarded IMO.

    ReplyDelete
  3. Maju I already sent you the study about Siberian Q1a lineages, I also included along with it two more studies that you will probably find useful:

    1-Variability of the Entire Mitochondrial DNA Control Region in a Human Isolate from the Pas Valley (Northern Spain). Cardoso et al(2010)

    2-The maternal legacy of Basques in northern navarre- New insights into the mitochondrial DNA diversity of the Franco-Cantabrian area. Cardoso et al(2011a)

    Anyways, you are right about the very small sample size of Arratia and Goierri, it was only 55 people for the two regions combined. The sample size for Northern Navarra is somewhat more reasonable(n=110).

    ReplyDelete
  4. According to 23andme, my mtDNA haplogroup is U5b1b1 (the "Saami" one). My most remote maternal ancestor about whom I know is from Béarn just like the remainder of my ancestry (around the town of Morlaàs to be precise).

    ReplyDelete
  5. Hehe, we did not have to go too far. Thanks for confirming my theory so fast, Heraus. :)

    ReplyDelete
  6. And you may want to write to the authors on this particular matter, seriously.

    When you look at any map of FC habitation (or art as in this case) you soon spot areas that look less inhabited, subregions within the region. For example: the Garonne-Drodogne, the Rhône, the Pyrenees (or maybe two or three distinct regions in the Pyrenees). Then also the various "Cantabric" sub-regions, though these are essentially a projection of the Pyrenees westward.

    While probably all three or whatever number of regional peoples were related they probably also developed since the very beginning some local differences, as most people would not normally travel between Asturias and Ardèche in their lifetime, right?

    It is the network of these similitudes and differences what interest us when deciphering the mystery of the legacy of Paleolithic Europeans in modern people. There should be and there will be lineages that expanded northwards and eastwards that do not exist among Basques, naturally. But they should exist in the arch between the Poitou and Provence.

    And my forecast is that, if looked in detail, they will be more diverse in this area than outside it. Otherwise they would suggest immigration, not emigration.

    ReplyDelete
  7. Erratum:

    I wrote: ... "areas that look less inhabited, subregions within the region".

    And I meant: ... "areas that look less inhabited, dissecting subregions within the region".

    Obviously the areas mentioned just after that were not "less inhabited" but "most inhabited". My apologies for whatever confusion.

    ReplyDelete
  8. Notice that Pasiegos are said to be medieval immigrants to the area from somewhere not far but south of the mountains.

    Remember that these people have unusually high levels of E-M81? So do all the non-Pasiegos people of Cantabria, but to a lesser degree.

    You never know with these "migration" stories

    So true ^ 3

    Still the Arratia and Goierri samples are relatively small, so the fluke hypothesis cannot be discarded IMO.

    I'm on board with the fluke hypothesis ;)

    How many times a sample of just 50 produces a strangely high or low result for the region and people start saying "oh, that must mean that this or that"... it's 50 samples, sometimes even samples of 200 will produce strange results.

    According to 23andme, my mtDNA haplogroup is U5b1b1 (the "Saami" one).

    It's also the Senegal/Mauritania clade, which fits well with an ultimate origin in Iberia, in the center of the 2 branches. Do you know your HVR haplotype? I'd be interested in knowing. My maternal ancestry is also from around there, from Toulouse, and I'm U5b, probably U5b1. And my lineage is very weird, but interestingly my 2 closest matches are from Cataluña and Asturias, in a database filled with North Europeans, so I'm getting a feel this is not a coincidence.

    ReplyDelete
  9. The more I think about it the more likely the fluke looks. Because samples of just 25 look a bit limited, not enough to jump to conclusions.

    ReplyDelete
  10. I'd caution against the inference that high frequency implies source location.

    More often, you'd expect high frequencies to be the result of serial founder effects that are most pronounced at the end of the line, and the Franco-Cantabrian region is close to the end of the line for migrants from all points east and north in Europe, while the Pyreneas are a natural barrier to migrants from North Africa.

    Now, from other lines of reasoning, there is certainly good reason to think that if any mtDNA lineage really does have a Franco-Cantabrian refuge source that it is U5b1. But, a high frequency alone doesn't necessarily say much about its origins.

    Assigning J1c to that era seem much more questionable (efforts to date it from mutation rates are frustated by the lack of a star-like node), despite a superficially similar geographic spread (the maps seem far too regular to be based on a really comprehensive database in both cases and show no frequency in places where J1c is present in multiple subtypes). This study for example, notes that there are substantial numbers of J1c individuals in the Caucasus nations and the Near East, with diversity being greater in the Near East than in Europe. The J1c varieties closest to that found in Southern Europe (1) in that study are found in the Caucasus (4), Cyprus, Saudi Arabia (3), Kuwait (2), Iran (5), Syria (3), Turkey (3) and Lebanon.

    ReplyDelete
  11. By luck, or rather because of the Languelloc ancient mtdna study, I've been building a very detailed map of the distribution of mtdna H, U5, and U5b. The following map is probably more detailed then anything published so far, for the simple reason that it's the sum of all those studies, something that geneticists should take to doing themselves.

    U5b mtdna percentages (n=34000 [!])

    I had also made some rough diversity measures of U5b, and the preliminary results showed that Iberian U5b was clearly most diverse (no opinion on France, yet, it was mostly a test versus Scandinavia and Finland.

    North Africa's U5 is almost exlcusively U5b, while the Middle East's U5 is overwhelmingly U5a, including Iran and India.

    Tomorrow I will upload the results of diversity calculations of U5b.

    ReplyDelete
  12. "I'd caution against the inference that high frequency implies source location".

    Of course. We'd need diversity data to determine that with any certainty. And this is not provided here though some sequences are provided in the supp. material linked above (for whoever wants to deal with extremely raw material - I don't think I have time right now).

    "More often, you'd expect high frequencies to be the result of serial founder effects that are most pronounced at the end of the line"....

    Not necessarily that way either. Long time of drift and little immigration should also produce very high frequencies of some fixated lineages. This happens for example among Papuans (and many others). Papuans typically have one or two clades fixated in different valleys. These lineages may be different from valley to valley or not but the fixation trend is very clear.

    The end of the line founder effect you say is to be expected only where colonization happens from a single non-diverse source on a virgin land, for example: Polynesians (or also early Eurasian colonization).

    "Assigning J1c to that era seem much more questionable (efforts to date it from mutation rates are frustated by the lack of a star-like node)"...

    I do not think star-like nodes are necessary for dating but actually, now that you mention, J1c IS a star-like node itself, with 8 basal subclades (check PhyloTree please).

    What star-like nodes signify is a rapid sudden expansion, like what might have happened at the early colonization of Europe by H. sapiens or the recolonization of Central Europe after the LGM. Maybe even a Neolithic sudden expansion, if such thing ever happened and was preserved.

    "This study for example, notes that there are substantial numbers of J1c individuals in the Caucasus nations and the Near East"...

    It is an interesting study indeed but take care of the mutations mentioned. The paper works all the time ONLY with HVS-I, while J1c as described now by PhyloTree (and it seems this paper too) is defined only by HVS-II and coding region transitions. After checking a bit I conclude that the J1c mentioned by Piia Serk is what is now called J1d, because they both share the HVS-I transition at 16193.

    The data in the supp. material (check the update - supplementary table 4, I believe) indicates that J1c (modern definition) is relatively rare in West Asia being restricted to Turkey and Syria (9% and 11% respectively) and some among Negev Bedouins (1%). Svanetians have 0% as do Jordans, peninsular Arabs and regular Palestinians. In North Africa as well, J1c is only found among the Figuig of Morocco (5%), all the rest (Egyptians, several other Berbers) having 0%.

    Instead it is relatively common in West Europe, something ill-captured by the map: 12% in Ireland, 11% in England/Wales, 9% in Scotland, 7% in Scandinavia. It is found all around Europe but at lower frequencies.

    The map, now that I look at it, is horrible in reflecting the data in the Atlantic islands: North Navarrese and Irish have effectively the same apportions (one decimal pointy of difference). Hmmm... will need to check this matter in greater detail, I'd hate to mislead my readers.

    In any case, the lineage could well be of West Asian origin (it's very plausible and I never said the opposite) but this would need to be demonstrated. It is very possible that different regions have different J1c dominant sublineages, in the West this one is probably J1c2. But we'd need to research all the matter in greater depth, reviewing the literature on the matter and so on.

    ReplyDelete
  13. Argiedude: I updated with a link to your map. I seem unable to upload or even hotlink it (maybe too large?), so I'll see if I can make an improved version with gradients.

    Assuming I can spare some time... :)

    ReplyDelete
  14. Argiedud and Maju, thank you for your careful and rigorous analysis of that data beyond what is presented in this paper. We would be blessed if the peer review process were as rigorous as the comments to this post.

    ReplyDelete
  15. I seem unable to upload or even hotlink it (maybe too large?)

    I've noticed some changes in imageshack, recently, you used to be able to obtain the direct link, now they want you to first sign up or something. And I really can't find another free image uploading site that's as good and quick and easy as imageshack.

    Tomorrow I'll definitely have the diversity thing ready.

    ReplyDelete
  16. I just managed to upload (so now you have another possible hotlink). It was some problem of either blogger or Firefox, which I later updated and restarted, because I could not work normally with any image and had to use the URL cut-through ([img src=LINK /] but replacing [] by <>).

    Seems totally solved now whatever it is. And it was in any case not imageshack's problem. Not in this case.

    ReplyDelete
  17. "The end of the line founder effect you say is to be expected only where colonization happens from a single non-diverse source on a virgin land, for example: Polynesians (or also early Eurasian colonization)".

    And probably so for every human expansion into a so far unexploited region. The margins of human habitation would usually consist of a population subject to ' Long time of drift and little immigration'.

    ReplyDelete
  18. "According to 23andme, my mtDNA haplogroup is U5b1b1 (the "Saami" one)"

    "It's also the Senegal/Mauritania clade, which fits well with an ultimate origin in Iberia"

    For the records, let's not forget that U5b1b was also found in a Yakut (and in this same study, in a Fulbe from Senegal indeed).

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199377/

    image of the mtDNA sequences tree of the study (Yakut is #27 and Fulbe from Senegal is #29)

    ReplyDelete
  19. Good point Waggg. However, #27 (Yakut) is part of the Saami cluster, with Saamis keeping most of the diversity (#25, #26 and #28). So, considering that and considering that U5b (and even U5b1b itself) is overall a European clade, we can conclude that its presence among Yakuts must obey to lesser random flow from NE Europe.

    ReplyDelete
  20. I was going to upload a map of the diversity of U5b, days ago, but I've become caught up in the mtdna details of the Sahel, so maybe tomorrow.

    Maju, here's an excellent study of Lake Chad, by Cerezo (2011), which is open access, and has lots of interesting comments about the results:

    mtdna of Chad (Cerezo, 2011)

    Back to U5b, we have a curious "mystery". Puerto Rico has 1% U5b of the Senegal cluster, accompanied by 25% mtdna L, implying U5b made up 4% of their African mtdna, barring genetic drift, which has indisputably been established to have occured at least in the case of y-dna R1b1*, now found in about 5% of Puerto Rican y-dna samples.

    But "Senegal" U5b is completely absent in 2000 African American mtdna samples, and I haven't seen it in Latin American mtdna, either, which could amount to another 1000 L lineages. Maybe Puerto Rico at one point received slaves from an unusual place like Mauritania (north of Senegal)? Nope, because the Senegal U5b clade doesn't exist in Mauritania, it doesn't exist in Western Sahara, it doesn't exist in 800 Canary Island samples, it doesn't exist in Morocco, and actually, it doesn't exist in Senegal. All Senegalese samples are from Fulani in the east of the country. All samples of Senegal U5b are from Fulani/Fuleb/nomads, all of them. And the clade, amazingly occurs across the entire Sahel, from Senegal to Lake Chad, always at a very low rate, about 1%. It's something very curious how this exceptionally rare lineage somehow managed to become a prominent part of Puerto Rico's mtdna. Seriously, if you search mitosearch for the Senegal U5b haplotype, ALL results are from Puerto Ricans. There isn't one single African American, Brazilian, nothing, it's all Puerto Ricans.

    I am still going to upload the U5b diversity map. Tomorrow...

    ReplyDelete
  21. and actually, it doesn't exist in Senegal

    so to speak

    ReplyDelete
  22. The "Senegal cluster" I'd think of as "Almoravid". The core of the Almoravid Empire was of Senegalese and Mauritanian/Sahrawi Berbers, and these reached as far North as Valencia and Lisbon in the height of their power.

    There are other options of course, but, considering its affinities and that AFAIK is rare in Senegal itself, I'd think of it as Berber lineage. As you may know not only Black Africans were enslaved by Europeans in the first centuries of the slave trade: anything non-Christian or even not of the appropriate Christian sect (Irish by the English is the best known example) could do.

    Also, as you may know as well, an important part of the emigration to America from Castile was made up probably of converts (Muslims or Jews), who hoped to avoid the terrorism of the Inquisition. Additionally a major early Portuguese slave-trading base, Arguin, was located just north of Senegal (Castilians were forbidden from capturing slaves, they could only buy them from foreigners, or even trading altogether in Africa south of the Canary Islands - Tordesillas Treaty).

    So you have a number of possible explanations in the line of "Berber or Moorish lineage".

    "here's an excellent study of Lake Chad, by Cerezo (2011)"...

    I totally missed it when published, thanks for the note. I'll take a look and may comment something tomorrow maybe.

    ReplyDelete
  23. The U5b diversity map is almost finished. I was wrong about Spain. I have some 25 datapoints on the map, and a definite pattern does emerge, it's not a random splattering of values, and it's something interesting. Tomorrow definitely. It's worth the wait. :)

    ReplyDelete
  24. U5b diversity map:

    U5b diversity map

    Calculated using the same formula commonly used in mtdna studies. Note that sample sizes smaller than 30 or 40 can vary wildly, as can be observed in the next graph, which shows the diversity estimates of random subsets of a large population with a known diversity (0.81). When the subsets are made up of 20 samples each, the results are simply all over the place. Unfortunately, a lot of the results in the graph above had less than 30 samples, yet a definite pattern emerges.

    Nei simulation

    ReplyDelete
  25. I find the homogeneous diversity kind of disturbing. Anyhow, I'm linking to this image as an update.

    What does the Nei Simulation mean?

    ReplyDelete
  26. The Nei formula (1980's) is the standard mtdna haplotype diversity formula used in almost all mtdna studies. It's not proportional. For example, if a population has 10 samples, 5 belonging to a single haplotype and the other 5 all different, the Nei formula gives a result of 0.78. The diversity of all the samples of a population will usually be a very high number, greater than 0.95. It's a little strange, but that's the formula used in all mtdna studies.

    The Nei simulation is to illustrate that the values can dance around wildly depending on the sample size. I took 1800 U5b samples from mitosearch and calculated their diversity. It was 0.95 or higher. Too high for the simulation, so I purposefully reduced the range until the diversity estimate for the 1800 samples was 0.81. At that point I took random subsets of 20 samples of this 1800 sample population and generated their diversity estimates. The results are graphed in the pic. As can be seen, a sample size of 20 will generate Nei diversity estimates that can be hugely off from the real value of the population they are trying to estimate. The real value of the population here is 0.81, which is the bar in red in each of the charts. A minimum of 50 samples is necessary to generate a minimally reliable estimate. That's very hard to get if you're estimating the diversity of a specific haplogroup which makes up only a few percent of the population, so that's a caveat: the results are generally ok, and there's a clear pattern, but don't take each result for each region as a solid estimate, it could be off by a mile if the sample size is just 10 or 20.

    ReplyDelete
  27. Not sure what conclusions may be reached, if any.

    Indeed, it's something interesting to observe, but I also got the feeling that it wasn't exactly illuminating in any particular way. It would have been a different picture if there was a center of diversity squarely in Iberia that gradually declined eastwards, but that first impression of mine, which prompted me to do this graph, didn't pan out.

    ReplyDelete
  28. I looked at the HVR test results for U5 in the Behar et al paper on the Basque region. We have a lot of diversity in U5 test results for this region, including Spain, France and also the UK and Ireland, so I expected to find some interesting results in the Basque region.

    The most interesting result is that U5b1f is the dominant U5 subclade in the region. Among nearly 1,000 U5 FMS samples available in GenBank and the FTDNA U5 project we only have 4 FMS test results for U5b1f: DQ156208 and HQ675036 (both apparently from Spain), JX286537 from Germany and a fourth person in the U5 project with ancestry from France. Using the combination of 16319A and 533G, I counted 99 U5b1f samples, or nearly 11% of the total 908 sample size. U5b1f was equally distributed among French and Basque speakers but only 3.2% among Castillian.

    Summary of U5b1f by language
    Basque (4-13) 75 599 12.5%
    French (1-3) 20 164 12.2%
    Castillian (15-18) 4 124 3.2%


    The remaining U5 were only 5.7% of the 908 samples, although I might have missed a few U5 with the 16270 back mutation. There are two samples I predicted to be U5b1i, another very rare subclade with only 4 known samples, from Sardinia, Germany, England and Ireland. There were also several samples for the fairly rare subclades U5a1d2a and U5b1c1a.

    There were only three U5a2 samples, an unusually small percentage. I was not able to predict subclades for most of the U5a1 and U5b (excluding U5b1f) test results. There are also two samples that could be either U5a or U5b, (1370 and 1751) and it would be very interesting to test these for the full genome.

    I emailed Dr. Behar about the results, and he does plan to do more FMS testing of the non-H samples, however, funding is not currently available. It might be interesting to do contributions to help support some additional testing of both U5b1f and some of the other unusual test results.

    ReplyDelete
    Replies
    1. " U5b1f was equally distributed among French and Basque speakers but only 3.2% among Castillian".

      Makes sense because in general Basque genetic affinities seem more clear, or at least clinal, towards France than towards Iberia - and within Iberia along the Pyrenees/Ebro to the East (Catalans) than to the West (Castilians, Portuguese).

      One of the usual problems with French samples is that we seldom know where they are from, and France is the largest state of Europe after Russia, and a key region for the demographic history of the continent, at least the Western half.

      "There were only three U5a2 samples, an unusually small percentage. I was not able to predict subclades for most of the U5a1 and U5b (excluding U5b1f) test results".

      That would imply that these lineages you were looking for, while common in other areas of Europe (probably the Central-NW cluster, which is relatively homogeneous and a reference because of greater research and private testing), are rare or nil among Basques.

      "... however, funding is not currently available. It might be interesting to do contributions to help support some additional testing of both U5b1f and some of the other unusual test results".

      Funding seems to be a problem these days in all aspects of life. Let us leave it at that.

      Delete
  29. I think what's really remarkable is that 65% of the U5 in this study are in a single subclade, U5b1f, that is very rarely found outside the region. That seems to suggest a founder effect with very little subsequent migration of U5b1f outside of the Basque region.

    Also, do you know where I can find a PDF of "Mitochondrial diversity patterns and the Magdalenian resettlement of Europe: new insights from the edge of the Franco-Cantabrian refuge"?

    ReplyDelete
    Replies
    1. http://www.academia.edu/1862333/Mitochondrial_diversity_patterns_and_the_Magdalenian_resettlement_of_Europe_new_insights_from_the_edge_of_the_Franco-Cantabrian_refuge

      It is the author (http://uniovi.academia.edu/AFPardinas) who is sharing. You may or not need an Academia.edu account - but that is just a mere inscription and email confirm.

      "That seems to suggest a founder effect with very little subsequent migration of U5b1f outside of the Basque region".

      Don't you think this also happens with other lineages that are relatively exclusive of Basques? Naturally, maternal lineages have migrated much less than male ones.

      Delete
    2. Sorry, my bad, it's just a cite and the document is unavailable. :(

      Drop me a line at lialdamiz[AT]gmail[DOT]com and I'll send you a copy.

      Delete
  30. My maternal grandmother recently had her DNA mapped by 23andme. We are a part of the U5b1b1 haplotype. We are Mexican with Spanish ancestry. My grandmother's ancestry composition came back as 83% European, anout 47% which is Southern European. No North African, very small percentage of Northern European DNA. Could it be possible that our Spanish ancestors were from Basque country?

    ReplyDelete
    Replies
    1. If you make a search with the keyword "U5b1b1" in this blog alone you will find that it shows up with: Sámi (Lapps, one of the three major lineages among them), Asturias (2 individuals among hundreds of Asturians).

      If you search for "Basque mtDNA" you can come across entries like this one, where we can see that overall U(xK) varies but is not particularly high among Basques and Gascons (13-33% among Basques depending on the specific subpopulation)

      The most informative snippet for your query may be this one, where U5b1 (without further details) is reported for the Neolithic site of Aizpea (Navarre). But not too informative, right?

      For your kind of query the only thing you can do is to contrast your specific variant haplotype with databases for greater likelihood but mtDNA (unlike Y-DNA) is not that informative for personal lineage tracking (mutations may only accumulate in terms of millennial lapses, what does not help.

      The only thing clear is that your lineage is very old in Europe.

      Delete
  31. My maternal grandmother recently had her DNA mapped by 23andme. We are a part of the U5b1b1 haplotype. We are Mexican with Spanish ancestry. My grandmother's ancestry composition came back as 83% European, anout 47% which is Southern European. No North African, very small percentage of Northern European DNA. Could it be possible that our Spanish ancestors were from Basque country?

    ReplyDelete
  32. The articles you provided were interesting. At least this points us to a region in Spain. Pretty amazing that our family stayed in that area for so long. Thanks for the help, your blog is very informative.

    ReplyDelete
    Replies
    1. You're welcome. Thanks for reading.

      "Pretty amazing that our family stayed in that area for so long".

      Just for the record, not all my ancestors are Basques: my father's side seems to be 100% local but my mother's side is very mixed (Italians, Spaniards), however the mtDNA line should be local as well, at least as far as I can discern.

      Delete
  33. I have MTDNA J1c, and my 2nd Great Grandmother (maternal grandmother's maternal grandmother) was an Ashkenazi Jewish woman that was born in Latvia. Both of my 2nd Great Grandmother's parents were born in Latvia.

    My MTDNA subclade is just plain J1c. It has no further mutations

    I also don't know if my Latvian 2nd Great Grandmother was full Ashkenazi Jewish. I am open to the idea that her mother was not Ashkenazi Jewish.
    I understand that Ashkenazi Jewish is actually a mixture of Middle Eastern and European.


    I love your blog


    Raymond Scott

    ReplyDelete
    Replies
    1. Well, as you can see in the maps, J1c is also present in other parts of Europe, including Eastern Europe - it's just less common than among Basques apparently. Jewish maternal lineages often seem to originate from host populations, while paternal ones (and the bulk of nuclear genetics) are more linked to West Asia. Not sure how this applies to J1c in any case.

      Delete
    2. Through James Lick's Mitochondria DNA analysis tool, I found out that I have the mutations for J1c14 with an extra mutation. J1c was discovered last year, and so that's why 23andme had my subclade as just J1c when I joined 23andme in 2011. They are behind on updates though.


      Raymond Scott

      Delete
  34. In 2007, I had my mtDNA tested by National Geographic classifying me as Haplogroup U5 (subclade U5a). In August 2011 I re-tested with FamilyTreeDNA and was classified as simply Haplogroup U5 having tested only HVR1 & HVR2. I had a perfect match to a woman in Spain whose maternal line is of Basque people in Pamplna, Bayone, and San Sebastian. My maternal line I have traced back in France from Rochefort (1901), Nancras (1845), Ste Gemme (1776), through documentation. Further research yet undocumented ancestry follows still in France back through Sablonceaux (1751), Meursac (1724), and Grezac (1696), France . I have not made a connection into Spain.
    In October 2011, I submitted to complete a FULL series that reclassified me as Haplogroup U5b1. Since then, FamilyTreeDNA, has again reclassified me to U5b1f (Sample #N45715) which told of ancestry back to the Basques. In November 2013, I received results of my anasomal DNA from Ancestry.com as follows:
    <1% Asia South
    63% Europe East
    14% Ireland
    9% Great Britain
    8% Iberian Peninsula
    <1%European Jewish
    <1% Italy/Greece
    <1% West Asia
    <1% Caucasus
    Is there any way you can help me make that connection? Your comment about U5b1f being very rare outside of Basque country really intrigues me. I live in Orchard Park, Erie County, New York, USA. My grandmother was a WWI war-bride who came to live in Buffalo, NY. This may help your migration patterns outside of Basque country. You may email me at dmshine@aol.com

    ReplyDelete
  35. I'm guessing from your autosomal DNA that your other ancestors are from Eastern Europe or maybe Central Europe, right? Not sure how accurate those estimates are in practice but they should give at least a half-decent hint.

    Re. your mtDNA, you have to understand that the closest thing, genetically speaking to a Basque is not normally a Spaniard but a Gascon or sometimes other SW French. Your maternal ancestry is from a region (Charente-Maritime) which would seem close enough in geography to match Basque genetics. Actually, looking at physical phenotypes I detected a strong level of Basque affinity (in looks) in the nearby town of Angoulême, even more similarly than many Gascons, so it's very possible that, for whatever reason that area is particularly close to Basques in genetics.

    Sadly enough France is very poorly researched in terms of population genetics (very restrictive laws and an institutional hostility towards this kind of research), so we know way too little about the regional distinctions in the French state. The only mtDNA study I know of for France is from 2004: http://www.nature.com/ejhg/journal/v12/n4/pdf/5201145a.pdf

    They have a sample from Perigord-Limousin but otherwise the SW is not studied. U5b is found only in the districts of Perigord-Limousin (2.8%) and Brittany-Finistère (4.5%), however there is no more detail on downstream subclades, which were probably not known back in the day.

    But in general it does seem that the lineage is from where you genealogy points to and that, somehow, it has a Basque connection.

    I have to rush now. Hope this helps.

    ReplyDelete

Please, be reasonably respectful when making comments. I do not tolerate in particular sexism, racism nor homophobia. Personal attacks, manipulation and trolling are also very much unwelcome here.The author reserves the right to delete any abusive comment.

Preliminary comment moderation is... ON (sorry, too many trolls).