August 25, 2012

Asturian mtDNA

Rock art from Asturias
A reader sent me a copy of a recent paper on the matrilineages of Asturias (in the northern parts of the Iberian Peninsula and part of the important Upper Paleolithic province known as the Franco-Cantarbrian region).

A. Pardiñas et al., Mitochondrial diversity patterns and the Magdalenian resettlement of Europe: new insights from the edge of the Franco-Cantabrian refuge. Journal of Human Genetics 2012. Pay per view ··> LINK [doi:10.1038/jhg.2012.100]

The authors identify what I understand is a false problem and try to find a solution but, as I see it, the whole matter lacks merit because instead of focusing on specific lineages like H, H1, H3, V, J or T2b (for example), they just discuss general haplotype diversity, what is pointless. 

Worse: they do so based only on HVS-I, which can only be considered a very mediocre proxy for actual lineage estimations, specially where haplogroups like H are dominant - because HVS-I usually says nothing or almost nothing about H and many of its subclades. 

So most of paper is just much ado about nothing, so to say. However the researches made an effort to quantify Asturian haplogroups (always with the limitation of using only HVS-I) and these results are of some interest, being the only reason why I mention this paper.

The mtDNA haplogroup (and paragroup!!!) frequencies of 429 Asturians (from various cities, all with Asturias-born maternal grandmother), based on HVS-I sequences, are as follows [haplogroup - absolute number (percentage)]:
  • R0 - 251 (58.5)
    • R0a - 1 (0.23)
    • HV -250 (58.3)
      • HV* - 2 (0.47)
      • H - 225 (52.4)
        • H* - 101 (23.54) 
        • H1 - 58 (13.5)
          • H1* - 53 (12.35)
          • H1a - 5 (1.17)
            • H1a - 1 (0.23)
            • H1a3 - 4 (0.93)
        • H2 - 14 (3.26)
          • H2a2b - 13  (3.03)
            • H2a2b* - 2 (0.47)
            • H2a2b1 - 11 (2.56)
          • H2b - 1 (0.23)
        • H3 - 30 (6.99)
        • H5 - 8 (1.86)
        • H6 - 11 (2.56)
          • H6* - 9 (2.10)
          • H6a1a1 - 2 (0.47)
        • H7a1 - 2 (0.47)
        • H9a - 1 (0.23)
      • HV0 - 17 (3.96)
        • HV0* - 8 (1.86)
        • V - 9 (2.10)
      • HV4 - 6 (1.40)
        • HV4a* - 3 (0.70)
        • HV4a1a - 3 (0.70)
  • U - 64 (14.92)
    • U* - 2 (0.47)
    • U1a2 - 1 (0.23)
    • U2'3'4'7'8'9 - 33 (7.69)
      • U4 - 11 (2.56)
        • U4* - 4 (0.93)
        • U4a - 7
          • U4a1 - 6 (1.40)
          • U4a3 - 1 (0.23)
      • U8 - 22 (5.13)
        • U8b - 4 (0.93)
        • K - 18 (4.20)
          • K* - 11 (2.56)
          • K1 - 7 (1.63)
            • K1a - 5 (1.17)
              • K1a1 - 2 (0.47)
              • K1a5 - 1 (0.23)
              • K1a11 - 1 (0.23)
            • K1b1a - 2 (0.47)
            • K1c2 - 1 (0.23)
          • K2b1 - 1 (0.23)
    • U5 - 23 (5.36)
      • U5* - 4 (0.93)
      • U5a - 11 (2.56)
        • U5a1 - 9 (2.10)
          • U5a1* - 7 (1.63)
          • U5a1b1 - 2 (0.47)
            • U5a1b1* - 1 (0.23)
            • U5a1b1e - 1 (0.23)
        • U5a2 - 2 (0.47)
      • U5b - 8 (1.86)
        • U5b1 - 7 (1.63)
          • U5b1* - 3 (0.70)
          • U5b1d - 4 (0.93)
        • U5b3 - 1 (0.23)
    • U6 - 5 (1.17)
  • JT - 93 (21.68)
    • J - 45 (10.49)
      • J* - 27 (6.29)
      • J1b1a1 - 8 (0.23)
      • J2 - 10 (2.33)
        • J2a1a - 1 (1.86)
        • J2b1a - 9 (2.10)
    • T - 48 (11.19)
      • T* - 5 (1.17)
      • T1 - 11 (2.56)
        • T1a* 10 2.33 (1.20–4.22)
        • T1a2a 1 0.23 (0.01–1.29)
      • T2 - 32 (7.46)
        • T2* - 2 (0.47)
        • T2b* - 20 (4.66)
        • T2b3a - 1 (0.23)
        • T2c - 3 (0.70)
        • T2e* - 1 (0.23)
        • T2e1 - 5 (1.17)
  • N1 - 6 (1.40)
    • N1* - 1 (0.23)
    • N1b* - 2 (0.47)
    • I - 3 (0.70)
      • I* - 1 (0.23)
      • I1a - 1 (0.23)
      • I2a - 1 (0.23)
  • W - 3 (0.70)
  • M1 - 3 (0.70)
    • M1* - 2 (0.47)
    • M1b1 - 1 (0.23)
  • D4g1 - 1 (0.23)
  • L3f1b4a - 5 (1.17)
  • L2a - 1 (0.23)
  • L1b - 1 (0.23)

A lot more research, with full coding region sequencing if possible, needs to be done in high "asterisk" haplogroups like H* (24%), H1* (13%), H3 (7%), H6*, HV0*, V, K*, U5*, J*, T1a* or T2b*. Hopefully next time.

2 comments:

  1. No H5'36 - my father's mtDNA - which previously was found in one sample from Bearn in the French Basque area...

    ReplyDelete
    Replies
    1. Notice that they only tested for HVS-I and there's a lot of H* over there. H5'36 is defined by a HVS-II transition, so it would not have been spotted.

      Delete

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).