February 26, 2012

Basque mtDNA

I finally today put my hands on the latest study on Basque matrilineal genetics:

I have to commend the paper because the detail achieved is unprecedented, owing to a good and ambitious sampling strategy and testing for not just the whole hypervariable region (both HVS-I and HVS-II) but for 22 coding region markers as well. As result they have found a number of rare haplogroups and others that are common among Basques but apparently not elsewhere.

Fig. 1, showing the detailed sampling strategy

They have therefore achieved an unprecedented depth in the analysis of mtDNA H among Basques and neighboring populations but they pay no attention to other haplogroups. In this sense I have missed slightly more attention to U(xK), which is an important Basque haplogroup, second only to H, and the lack of proper tabulation of the results other than for haplogroup H. This made me dedicate most of this Sunday to manually tab the information, which I believe is important knowledge to share and discuss.

But first the pearl of this work, the discovery of novel Basque-specific sublineages of haplogroup H. They are detailed in table 1:

Table 1

But there is even more data in the supplemental materials, however it is not well organized (specially all the non-H sequences: merely tabbed in PDF format) and requires some hard work to put together. As said before, I dedicated some long hours to that task and I came up with the following data:
A. Gascony:
Bearn (n=56):
  • H1: 11 (20%)
  • H2a: 2 (4%)
  • H3: 3 (5%)
  • V: 3 (5%)
  • HV: 2 (4%)
  • U: 16 (29%)
  • K: 6 (11%)
  • J: 4 (7%)
  • T: 2 (4%)
  • X: 3 (5%)
  • Singletons: H5'36, H6, H9, H59
Bigorre (n=48):
  • H1: 9 (19%)
  • H3: 2 (4%)
  • V: 4 (8%)
  • U: 11 (23%)
  • K: 5 (10%)
  • J: 2 (4%)
  • T: 4 (8%)
  • Singletons: H2a, H6, H14, H67, HV, R0, K, I, X, W, C
Chalosse (Dax district) (n=60):
  • H1: 9 (15%)
  • H2a: 4 (7%)
  • H6: 2 (3%)
  • H13: 4 (7%)
  • H74: 2 (3%)
  • V: 5 (8%)
  • HV: 2 (3%)
  • U: 13 (22%)
  • K: 3 (5%)
  • J: 5 (8%)
  • T: 3 (5%)
  • X: 3 (5%)
  • Singletons: H3, H4, H5, H8, H42
B. Northern Basque Country:
Lapurdi/Baztan (Lapurtera dialectal zone) (n=58):
  • H1: 15 (26%)
  • H2a: 2 (3%)
  • H3: 3 (5%)
  • H4: 2 (3%)
  • V: 8 (14%)
  • U: 13 (22%)
  • J: 8 (14%)
  • T: 2 (3%)
  • Singletons: H5, H6, H24, K, X
Lapurdi/Lower Navarre (Benafarrera dialectal zone) (n=73):
  • H1: 24 (33%)
  • H3: 4 (5%)
  • H5: 2 (3%)
  • H20: 2 (3%)
  • V: 6 (8%)
  • HV: 6 (8%)
  • U: 13 (18%)
  • K: 2 (3%)
  • J: 5 (7%)
  • T: 2 (3%)
  • X: 4 (5%)
  • Singletons: H2a, H6, H42
Zuberoa (n=61*):
  • H1: 16 (26%)
  • H2a: 3 (5%)
  • H5: 2 (3%)
  • HV: 3 (5%)
  • V: 2 (3%)
  • U: 14 (23%)
  • K: 5 (8%)
  • J: 9 (15%)
  • X: 3 (5%)
  • W: 2 (3%)
  • Singletons: H3, T
C. Southern Basque Country South (Spanish-speaking area since 19th century):
Araba (n=56):
  • H*: 2 (4%)
  • H1: 18 (32%)
  • H3: 6 (11%)
  • V: 3 (5%)
  • HV: 5 (9%)
  • U: 7 (13%)
  • K: 3 (5%)
  • T: 5 (9%)
  • J: 4 (7%)
  • Singletons: H58, N1, X
Central-Western Navarre (n=64):
  • H1: 10 (15%)
  • H3: 12 (19%)
  • H7: 2 (3%)
  • V: 7 (11%)
  • U: 10 (15%)
  • K: 2 (3%)
  • J: 3 (5%)
  • T: 7 (11%)
  • I: 2 (3%)
  • Singletons: H*, H2a, H5, H27, H42, H49, H81, N1, X
North-Eastern Navarre (Erronkari-Salazar): (n=55)
  • H*: 2 (4%)
  • H1: 9 (16%)
  • H3: 5 (9%)
  • H42: 4 (7%)
  • V: 6 (11%)
  • U: 17 (31%)
  • K: 2 (4%)
  • T: 6 (11%)
  • J: 3 (5%)
  • Singleton: K
D. Southern Basque Country North (Basque-speaking area in 20th century):
Biscay (n=59):
  • H1: 17 (29%)
  • H2a: 6 (10%)
  • H6: 2 (3%)
  • H53: 3 (5%)
  • V: 2 (3%)
  • HV: 3 (5%)
  • U: 9 (15%)
  • J: 6 (10%)
  • X: 2 (3%)
  • Singletons: H*, H14, H17, H24, H86, T, N1, I, K
Gipuzkoa (n=57*):
  • H1: 19 (33%)
  • H3: 7 (12%)
  • H17: 2 (4%)
  • V: 3 (5%)
  • U: 12 (21%)
  • K: 2 (4%)
  • J: 5 (9%)
  • T: 2 (4%)
  • X: 2 (4%)
  • Singletons: H2a, H14, W
Gipuzkoa SW (n=63):
  • H1: 24 (38%)
  • H2a: 3 (5%)
  • H3: 3 (5%)
  • H6: 2 (3%)
  • V: 3 (5%)
  • U: 16 (25%)
  • K: 2 (3%)
  • J: 3 (5%)
  • T: 2 (3%)
  • Singletons: H4, H58, HV, X, L3'4
North-Western Navarre (n=53):
  • H1:10 (19%)
  • H2a: 3 (6%)
  • H3: 8 (15%)
  • H4: 2 (4%)
  • H5: 3 (6%)
  • V: 3 (6%)
  • U: 12 (23%)
  • T: 4 (8%)
  • J: 5 (9%)
  • Singletons: H24, HV, W
E. Southern Basque Country - West Biscay (Spanish speaking since old):
Enkarterriak (n=21):
  • H1: 5 (23%)
  • H3: 3 (14%)
  • H15: 3 (14%)
  • HV: 3 (14%)
  • U: 2 (10%)
  • Singletons: H4, H24, H87, K, X
F. Spain (areas once within the Basque ethno-cultural area):
Northern Aragon (n=29):
  • H3: 5 (17%)
  • H4: 2 (7%)
  • HV: 3 (10%)
  • U: 5 (17%)
  • K: 2 (7%)
  • J: 6 (21%)
  • T: 3 (10%)
  • Singletons: H42, V, X
Northern Burgos province (n=24):
  • H1: 2 (8%)
  • H3: 4 (17%)
  • U: 8 (33%)
  • K: 2 (8%)
  • T: 2 (8%)
  • J: 2 (8%)
  • Singletons: H*, H4, V, L2
Cantabria (n=19):
  • H1: 7 (37%)
  • H3: 3 (16%)
  • H5: 2 (11%)
  • J: 2 (11%)
  • Singletons: H27, H30, U, K, T
La Rioja (n=52):
  • H*: 2 (4%)
  • H1: 13 (25%)
  • H3: 7 (13%)
  • H5: 3 (6%)
  • U: 8 (15%)
  • J: 4 (8%)
  • T: 5 (10%)
  • K: 3 (6%)
  • Singletons: H10, H13, H30, H51, H58, R0, I

(1) * Sample size of Zuberoa is listed as 62 and Gipuzkoa as 56 but after checking and rechecking I'm pretty sure that one individual has swapped populations. So I'm assuming that n(Zuberoa)=61 and n(Gipuzkoa)=57 for all apportions. 

(2) Haplogroups in italic type are not named that way (or not named at all) in PhyloTree. I am confused by this and other nomenclature of this paper and so far haven't got time to study what they might mean. Ideas are welcomed. 

(3) U means obviously U(xK). Just using the same terminology from the paper. Again, I haven't got any time to explore how much of that U is U5b, U5a, U4 or other clades. This is in my opinion the greatest shortcoming of the paper: ignoring U almost completely. 

Based on this data, I elaborated some maps (official administrative divisions retained for reference, circle diameters are proportional to sample sizes):

Frequencies of mtDNA H1

Frequencies of mtDNA H3

Frequencies of mtDNA U(xK)

Frequencies of mtDNA J

Frequencies of mtDNA V

Notice that V is not as common among Basques as initially reported years ago.

See also:


  1. Very nice maps!

    I have some questions: is that the same study as the one announcing that the Baztanese carried some paleolithic lineages?

    The authors give some dates for re-population from the Basque Country, which are very young (4.000 years?) how does this fit with the re-population from franco-cantabrian refuge at the end of the last ice age?

    Does this article prove that Basques "are different"? I just don't understand what's trying to prove, or it's just another study centered on Basque mtDNA?

    1. "is that the same study as the one announcing that the Baztanese carried some paleolithic lineages?"

      Yes. I did not notice before but it is indeed: this one and the other one on Y-DNA are both co-authored by Dr. Martínez Cruz, who is the head of the BIOMICs department.

    2. I correct: the BIOMIC's head is Dr. Martínez de Pancorbo, not Martínez Cruz. So no, the paper has yet to be published AFAIK. :(

    3. Is the Haplogroup U5a1a1 also found within ancient/present day Basque populations?

    4. Curious, has the Haplogroup U5a1a1 found within ancient/present Basque populations? If so what percentage and location/s?
      Any reply/replies would be most appreciated.
      Wondering because of A negative blood type.

    5. Anyone know whether U5a1a1 has been found among both ancient and present day Basques?
      If so from what locations?
      Any reply/replies would be most appreciated.

    6. Right now I can't say about U5a1a1 among Basques. As you can see in the details above, all U (K excepted) is treated as the same thing in this study and older studies I know of were certainly not as precise as you seem to need re. subhaplogroup identification.

      I know that U5 and U5a (no further subhaplogroup identification) has been found in Basque ancient DNA and that in some cases it has been claimed to fit with modern local lineages. Specifically:
      → U5 in Erralla (Magdalenian, 1/1), the same sequence exists today in the area
      → U5 in Marizulo (Neolithic, 1/1)
      → U5a in Fuente Hoz (Neolithic 1/6), along with 3 U* and 2 H.
      → U5a in Urtiaga (Bronze, 1/2), the other was H.
      → also U5b1 in Aizpea (Epipaleolithic, 1/1) and U* in Paternabidea (Neolithic, 1/9)

      ref. http://forwhattheywereweare.blogspot.com/2012/04/ancient-mitochondrial-dna-from-basque.html

      As you see, nothing specific enough to satisfy your curiosity. U5 may have existed in Europe since Solutrean times (arguably detected in Andalusia) and definitely since the Epipaleolithic (from Portugal to the Volga, dominant in Central and Eastern Europe along with U4 but not in Iberia, where H was more important), with older detection in Central European Magdalenian. But jumping from generic U5 to your specific request seems a bit difficult, more so when not all studies are so detailed, sorry.

  2. "Very nice maps!"

    Thanks, made them in a hurry. Could be improved (for example using area-proportional circles and such... but at some point I was just too tired to bother).

    "... is that the same study as the one announcing that the Baztanese carried some paleolithic lineages?"

    I don't know right now. Haven't got time to check yet.

    "The authors give some dates for re-population from the Basque Country, which are very young (4.000 years?) how does this fit with the re-population from franco-cantabrian refuge at the end of the last ice age?"

    As you know, I don't believe in the molecular clock as normally used and abused by geneticists. I don't believe in those dates and hence haven't even mentioned that part (just a fraction of the materials in this paper anyhow).

    "Does this article prove that Basques "are different"?"

    No and yes: the question is wrong, I'd say. The Basque-specific lineages do tell of a certain specificity but, as most populations have not even been tested for these lineages at all, it's impossible to "prove" anything.

    I don't think it's the matter at all, anyhow. Behar's team has proven itself once and again able to muster the resources to sample ambitiouly, usually much larger and detailed than any other studies of their kind. What we get here is a bunch of data, with rather high quality, for further analysis.

    You can't understand European or any other kind of population genetics from just one study, that's pop-science. But Behar's datasets are often very informative (cf. Africa, cf. West Eurasia) and are very worthy only for that.

    Conclusions? We need more European actualized data put together to tell. This is just a piece of the puzzle, even if a very interesting one.

  3. Is it really a mtDNA C in Bigorre? o_O

  4. Yes, and two L(xM,N) in two other samples. They are singletons, erratics and not much can be said about them but I do not find them surprising at all.

    Specially mtDNA M8 (M8a, C and Z), as well as D, is known to exist at low to medium frequencies in NE Europe, probably associated to the Uralic expansion. Erratics like this are probably scattered all around Europe therefore, as there's never been any absolute barrier to migration, never mind slavery (in the Middle Ages Eastern Europe was the main source of slaves and that's why we today say "slave", from Slav, and not anymore "serf", from Latin "servus"=slave).

    But you can never say much from singletons, as they have high enough chances to be mere flukes.

  5. Another possible origin is America, of course: since Columbus, there was always a number of people going to America and, often enough, back. Marriage or more likely concubinage with natives was not unheard of, for example famous Basque explorer, mariner and priest, Andrés de Urdaneta fathered a daughter with a Native American woman and she eventually established herself in Spain for all I know.

    Gascons, as French in general, were not outside the American colonization process at all. Bigorre is a rather remote location but who knows? It's just a private lineage so far, so it's all fluke, unless proven otherwise.

  6. My father is has mtDNA H5'36, same as a singleton from Bearn?!

    Prof Doug McDonald said that autosomally he looked most like:
    1. 74% Irish/26% Basque

    My mother is mtDNA T1a1, pity they don't break out the "T" into T1 and T2, as IMO T2 is often continental Europe - places like Germany, France - whereas T1 is found in coastal North Africa, from Egypt to Morocco, but also as far away as the Tarim Basin in China...

  7. Thank you for your valueable work mading sense of this data. I too was a bit surprised by the undue focus on mtDNA hg H only, given the importance of mtDNA hg U and V in older ancient DNA samples. Still, armchair population geneticists like myself can do analysis but can't gather data, so getting the data is more important than the analysis to me.

  8. I have a copy, thanks to a couple of readers, so if anyone doesn't have it and wants it to check for the details on T or whatever, just drop me a line (email at profile but remember to delete the anti-spam insertion: "DELETETHIS").

    I still have a stiff neck from yesterday's effort, but the data is there in form of sequences, just that it needs the interest to mine it.

    The more eyes looking to all that material, the more likely that we can make sense of it.

  9. "My father is has mtDNA H5'36, same as a singleton from Bearn?!"


    "74% Irish/26% Basque"

    Were you the one speculating months ago about some Hundred Years' War hypothesis? I have just vague recollections of some such discussion, maybe though private mail - but I don't remember who was my correspondent.

    Basques and presumably other peoples from the Bay of Biscay, also present in the early exploitation of the Newfoundland fisheries, were since the Middle Ages (and even today) fishing in Irish waters, which was probably the trampoline for the Canadian fishing expeditions, at least conceptually (Azores may have been another such link). However fishermen were invariably men, so an mtDNA lineage seems to require another background story.

  10. @Maju,

    In terms of the Hundred Years War - that wasn't me.

    However, after the "Flight of the Earls" in 1607, the Irish elite families dispersed to Europe, along with their fighting men, to become mercenaries.
    Many went on to fame and fortune in France, Spain, New Spain (greater Mexico), Austria and Russia. Some became major vinyard owners in the Bordeaux region, like Lynch (aka De Lench) and Hennessey among others.

  11. @Maju,

    In terms of Basques fishing off the West coast of Ireland, this is a centuries, perhaps millenia old tradition. The Irish were the first to explore the Northern and Western Atlantic, so word probably got around to other fishermen where the fish were.
    I also think that the rumor that Basques got to the Grand Banks first is probably true. Supposedly a Basque-Icelandic creole developed in parts of Iceland. I've also read that some of the North West coast Native Americans seem to know Basque words on first contact by the English and French.
    I knew someone from St. Pierre et Migeleon - http://en.wikipedia.org/wiki/Saint_Pierre_and_Miquelon - who said almost everyone there was of Basque descent, including her.

  12. I was oblivious to the Flight of the Earls episode. Always interesting to learn something new.

    "Supposedly a Basque-Icelandic creole developed in parts of Iceland".

    Vaguely familiar but it seems strange as, unlike the Irish or the Beothuk, the Icelanders would apparently chase the Basques who shipwrecked in their shores and kill them. I read something in the past about that and the Icelanders were quite hostile to foreign fishermen, probably wanting to keep their banks for themselves.

    "I knew someone from St. Pierre et Migeleon (...) who said almost everyone there was of Basque descent, including her".

    Miquelon (like 'Big Mike', I presume). When asked for nationality on those closed listings that include all kind of exotic islets but ignore the Basque Country, I often pick Andorra but guess that St. Pierre et Miquelon looks even nicer in a sense, after all it's the only autonomous entity out there to include the Basque banner in their flag (also those of Brittany and Normandy, representing the three major ancestries of the small islands).

  13. Bigorre was part of the process of colonization of the Americas from the very first moments (as many French sailors embarked from Bayonne which attracted people from the whole of the Adour basin).

    Gascon migration to America was quite high in the 19th century : I personally know an old lady from Bigorre who revealed to me that her mother was Brazilian (I cannot say of which ethnic "stock") as his father had migrated to Brazil, married a woman and came back home with her. Such family stories may very well have been hidden to younger generations.

    As for St Pierre and Miquelon, indeed all autochtonous inhabitants partially descend from Basque fishers from Saint-Jean-de-Luz. The most common surname in the island is "Detcheverry". I had sampled the islands on my blog but nearly one third of islanders visited my page, my blog got to be linked in a local newspaper, I avoided legal action against me by putting the sample offline.

  14. As for the study in itself, I rather lament indeed that mtDNA lineages such as U are not studies (I'm U5b1b1 myself as already stated on that blog). But very interesting results still.

    I also rather believe that "Béarn" is rather ambiguous : I mean, the whole of Béarn is bigger than the 3 provinces encompassing Iparralde. As I've come to notice last week, Béarnais people seem to show some internal diversity, or more precisely are more or less influenced by "foreign" admixture, at least autosomally wise (see my last post on Anthroeurope). Still, the aim of the study is just to discover local mtDNA lineages.

    The maps Maju made are very interesting as well : thank you for this work ! I don't really find patterns though, except that my home Béarn is rather high on mtDNa U, just like Roncal in Pyrenean Navarre (and Northern Burgos ...).

  15. "I avoided legal action against me by putting the sample offline".


    "Béarnais people seem to show some internal diversity, or more precisely are more or less influenced by "foreign" admixture, at least autosomally wise (see my last post on Anthroeurope)"...

    The only thing I see in that entry is that the two of you (the two Bearnaises) show very little, almost zero "West Asian" (Neolithic?) admixture. The rest is very similar to that of nearby Basques (no surprises). In contrast, other French have more "Neolithic" admixture (up to 10-12% according to the quite questionable Dienekes' zombie methodology).

    You list over there that you may have 3% West Asian, while she would have 1% but is that structure or rather random flukes. I'd expect some of that West Asian admixture among French (or other Europeans) to trickle down irregularly to Basques and Gascons, so 3% seems like totally trivial. More so when he's using zombies, what makes more likely that distortions occur.

  16. @Maju,

    The Flight of the Earls, and the Irish "Wild Geese", gave rise to the so-called "Wine Geese", more here:


    The Wine Geese in France
    Two of the most important families that settled in Bordeaux were the Barton family and the Lynch family, who gave their names to such highly-regarded Chateaux as Ch. Leoville-Barton and Ch. Lynch-Bages respectively. Other notable Bordeaux Chateaux of Irish origin include Chateau Clark, Chateau Dillon Chateau Margaux, Chateau Phelan-Segur, Chateau Yquem and Chateau Kirwan to name but a few.

    Similarly Irish families have made their mark in other European wine countries such as Spain, Italy and Germany, as well as further a field in Australia, Chile, New Zealand and the United States.

  17. In the article is there any mention of a type H1j9 - or not? Not sure if anything is mentioned about this - or the Sequence Sample EU372630? - Thanks, Tom Moffatt

  18. No, neither. The H1j lineages which are mentioned are all within H1j1, as per table 1, reproduced above.

  19. I am EU372630 at the H1J level. We have a second with sub 2626C, waiting for a third to attach H1j9 if we are not passe before.
    I can't find the data for the groups H1j3 through 8, trying to identify their specific regions of origins for them. Can someone point me to the right address

    Our 2626C line (includes Tom above :) ) is from Cateline Barau (priest in La Rochelle FRA call her Catherine) born circa 1570, living in La Rochelle later. The second 2626C match descends from a Guatemalan woman circa 1870s. We think Cataline's family might have been recruited from Oc-language or Basques country, after a protestant purge in contested La Rochelle.

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  23. Edited posts:
    I don't think the Guatemalan H1j+2626C is actually counted yet (as a third 2626C to confirm the new Mg). Either his sample is not yet in GenBank, or because he has the exact mutations as me (incl. 10455G & 593G). I think the latter disqualifies him, even though its very unlikely we will find a common documented ancestor. There is another 2626C who's origins I don't know in Ian Logan's H1j page (http://bit.ly/Hv02sX).

    10455G & 593G should be downstream of 2626C because they are absent in the DQ489525 Hinttala 1996 (2626C) sample.

  24. If you look at PhyloTree (R0 page), all H1j sequences, except H1j1 are referenced to Behar 2012b, which incidentally is a freely accessible paper (in the worst case all AJHG papers are accessible six months after publication), a key paper that was used to revise the whole PhyloTree build and propose the RSRS (discussed here).

    However I could not find them but mentioned in the long list of estimated ages (supp. material) without further references. The sequences are not in GenBank yet.

    This only seems to suggest that the authors are preparing some further work on the matter, retaining the key data by the moment. It is possible, I guess, that they may reply to your requests for info (some researchers are more accessible than others but worth a try if you have personal stakes on the matter).

    Rather than Basque-alignment specifically, other H1j lineages may just be aligned with the general pattern of H1 distribution (Atlantic Europe specially, from Scandinavia to Portugal) or it may be indirectly related to the Basque H1j1 lineage via SW France/Aquitaine/Franco-Cantabrian region in several times and manners. After all, the closest thing to a Basque is a Gascon and the Basque genetic pool probably comes mostly from Aquitaine and, more generally, Southern and Western France. This area, sadly, is not well researched (because of French restrictive laws and general lack of interest) but potentially hides a good deal of European roots.

  25. Also in Behar 2012b, they argue that a haplogroup to be considered as such must have at least three private lineages or be otherwise strongly justified, that may be a reason why the 2626C clade is not yet listed in PhyloTree (it'd be "private", right?) But can't say for sure.

  26. Thanks for the clarification. I read a criteria for the "three sample" rule is that not only are they not to be related lineages (i.e. documented), but also the signature must NOT be identical. The latter in theory disqualifies my and the Guatemalan sample to be treated individually. But that is not the issue at the moment, since I am still trying to get him to submit his RASTA to Ian for inclusion in GenBank, to be considered at all as a potential "third private sample".

  27. While I'm unsure of the exact details, the general notion is for a haplogroup to be a group of related haplotypes. If "H1j9" (so far not recognized as such haplogroup at PhyloTree - unofficial by most widely recognized reference today) does not meet the requisites, then it will be considered H1j* (by the moment).

  28. Hi there. The H58 seems to be quite rare. Only two examples above (I did a ctrl-f to find them.) If my haplogroup is also H58, (it is) am I then descended from the Basque people? This is news to me. I just did a 23andme test and further analyzed the data here. http://dna.jameslick.com/mthap/mthap.cgi

    1. Three individuals carry H58 in this sample in fact: one in Gipuzkoa, one in Araba and another one in La Rioja.

      "am I then descended from the Basque people?"

      Not necessarily. It is very possible that H58 exists in other populations as well. However, no matter how much I search, I can't find specific data on this lineage. This is surely just product of the rarity and relative novelty of the haplogroup, not being tested for in most studies.

      As for the link, it does not seem to work for me (some missing data, it says). You may want to download or take a screenshot and upload it to Googledocs or some other cloud-like space.

  29. I messed up the link. Here's the link, but you have to input your 23andme mtDNA into it to get any output.

    Here were my exact results, below. The only other things I've see referencing H58a
    were here (in drop down menu, and stating source was Salisbury, England!) http://www.familytreedna.com/public/mtdna_hstar/default.aspx?section=mtmap
    and here, http://www.ianlogan.co.uk/lists/behar2012b_2.htm where a guy seems to be collating all the info from the same paper as mentioned above.

    The Behar Data:
    JQ702375 Behar Haplogroup H58a 07-APR-2012
    T152C A263G 309.1C 315.1C A750G A1438G A4769G C5318T A8860G T9950C G13145A A15326G G15466A T15721C C16192T T16519C

    My data:
    Best mtDNA Haplogroup Matches:

    1) H58a

    Defining Markers for haplogroup H58a:
    HVR2: 263G
    CR: 750G 1438G 4769G 8860G 15326G 15466A 15721C

    Marker path from rCRS to haplogroup H58a (plus extra markers):
    H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 15466A ⇨ H58 ⇨ 15721C ⇨ H58a ⇨ 16390A (16519C)

    Good Match! Your results also had extra markers for this haplogroup:
    Matches(8): 263G 750G 1438G 4769G 8860G 15326G 15466A 15721C
    Extras(1): 16390A (16519C)

    Seems identical. Strange!

    1. Can't say much more, honestly. It would seem from your first link that H58 is found also (occasionally) in Norway and England (although this one, H58a, may well be yourself, right?) This seems pretty normal to me and fits with the patterns of other widespread H sublineages, for example H1, which is found concentrated towards the Atlantic coast of Europe but spans, in notable frequencies, from Karelia to the Sahara (Tuaregs).

      The frequency of H58 in the historical Basque area is of 3/908, a mere 0.33%. Even in the particular subpopulations where it is found it does not exceed 2% (1.6-1.9%), so it is most difficult to reach any conclusions, especially when this lineage has not been formally studied (i.e. with random samples) in other populations as of now. All that we can say as of now is that at least one area of (very limited) concentration of this lineage is around Araba (Álava) province.

  30. Oops- http://dna.jameslick.com/mthap/

  31. Anyone able to help me out with information on H59? I tried to post about this just now and it wouldn't let me. Was looking for information on it as the link Caroline suggested above says I am an exact match of H59 maternal haplogroup, not H, as 23andme suggests. Any help would be appreciated. Please contact me. dealingdreams@hotmail.com - thanks, Sarah

  32. Aupa, yo tengo haplogrupo mt H53, y lo poco que se de el es que está en algunos vascos, polacos, bielorrusos, alemanes, irlandeses, tuareg, mozabitas y uigures.
    Poco o nada más he podido encontrar.
    Sabes o conoces algo más de ese haplogrupo.
    Mila esker

  33. To Sarah and Iban: H sublineages with high numbers are all rare lineages, it's doubtful you'll find anything of info on them other than what you already know. Haplogroup H is one of two massive star-like structures (lots of sublineages hanging directly from the same node) in the Human mtDNA tree, the other one being the M node, which I associate to early Human (sapiens) expansion in Asia.

    The why of the super-star in the H node is not clear yet but I'm of the opinion that it must reflect one of the early (and very fast) H. sapiens expansions in West Eurasia, between c. 50,000 and c. 32.000 BP.

    See this: https://forwhattheywereweare.blogspot.com/2010/10/mtdna-stars-notes.html

    And also this for the complexity of understanding the chronology of branches with what appear as very different mutation rates, such as H and its "sister" U: https://forwhattheywereweare.blogspot.com/2011/06/mitochondrial-dna-and-molecular-clock.html

  34. Can anyone help me with some more information on h3m? And if this is common or rare among the Basque regions?


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