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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

Notes:

(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:

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Posted by on February 26, 2012 in Basque origins, Gascony, Iberia, mtDNA, population genetics