March 20, 2012

mtDNA haplogroup HV4a1a from Franco-Cantabria

PLoS ONE 7(3): e32851. doi:10.1371/journal.pone.0032851

Genetic Continuity in the Franco-Cantabrian Region: New Clues from Autochthonous Mitogenomes

Alberto Gómez-Carballa et al.

Abstract


Background

The Late Glacial Maximum (LGM), ~20 thousand years ago (kya), is thought to have forced the people inhabiting vast areas of northern and central Europe to retreat to southern regions characterized by milder climatic conditions. Archaeological records indicate that Franco-Cantabria might have been the major source for the re-peopling of Europe at the beginning of the Holocene (11.5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate.

Methods/Principal Findings

Based on a survey of more than 345,000 partial control region sequences and the analysis of 53 mitochondrial DNA (mtDNA) genomes, we identified an mtDNA lineage, HV4a1a, which most likely arose in the Franco-Cantabrian area about 5.4 kya and remained confined to northern Iberia.

Conclusions/Significance

The HV4a1a lineage and several of its younger branches reveal for the first time genetic continuity in this region and long-term episodes of isolation. This, in turn, could at least in part explain the unique linguistic and cultural features of the Basque region.

Link

6 comments:

  1. " we identified an mtDNA lineage, HV4a1a, which most likely arose in the Franco-Cantabrian area about 5.4 kya and remained confined to northern Iberia."

    I'm not sure how this connects to the debate on whether or not the F/C refuge was important in the repopulating of Europe?

    Is it relevant because it would explain how the basque are so different from other Europeans even if the F/C refuge did "populate" much of Europe?

    ReplyDelete
  2. 16221 appears to be unstable, so they probably missed many HV4a test results by only searching for results that included 16221 they might have missed some HV4a results, but still, a very nice study.

    They don't spell it out in the text, but the results do not support the presence of HV4a1 in Mesolithic Europe. In Figure they show an origin of HV4 in the Ukraine 14,000 ybp, followed by migration of HV4a to southern Europe and HV4a2 crossing the Black Sea into Turkey.

    If you look at the results in Figure 1, which shows HV4a1* samples in Italy and Greece, a more plausible scenario is an origin of HV4 among the first farmers in Near East or Fertile Crescent, followed by an early expansion into the Mediterranean coastal areas.

    I think the real question is whether HV4a1a is an indicator of the Basques or if it was part of another population expansion in Spain and France and was later incorporated into the Basques.

    ReplyDelete
  3. "Overall the phylogeny of HV4 suggests an origin in Eastern Europe about 14.2 kya (ΔT = 2.4)."

    Wow, so H was in paleolithic Europe!

    "If you look at the results in Figure 1, which shows HV4a1* samples in Italy and Greece, a more plausible scenario is an origin of HV4 among the first farmers in Near East or Fertile Crescent."

    You disagree with the time and space? How come you don't think some of the descendants of H4V just travelled south, especially during the last ice age?

    ReplyDelete
  4. I didn't look closely at the HV4* results, I only looked at HV4a. Taking a closer look at HV4*:

    There are two new results in GenBank that were not included in the paper, and Phylotree has also been updated, probably after the paper was submitted.

    AY738941 and JQ272477 are HV4c and both have ancestry in Italy.

    HM852851 and EF222234 are HV4b, HM852851 is Turkic from Schoenberg, and EF222234 is from a Malyarchuck study of Slavs, although they don't specify the ethnicity of this sample.

    That leaves 2 that are HV4*, EF417833 from FTDNA with unknown ancestry, and EU545447 from Malyarchuck with Russian ancestry. Given the small sample size, it could indicate ancestry in eastern or southern Europe, ot it might simply reflect over sampling bias from those regions. Given the split in HV4a1 in southern Europe and H4a2 in the Middle East, I still think an origin in the Near East seem more likely, but obviously we will need a much large sample size to say anything with confidence. To say that these results prove an eastern European origin is over reaching.

    ReplyDelete
  5. I see.

    But there's still the matter of time and if h could have come in the neo.

    ReplyDelete
  6. Also, this paper, from back in 2008, says "Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times (∼12,000–19,000 years before present [YBP]) in eastern Europe."

    http://m.mbe.oxfordjournals.org/content/25/8/1651.abstract?view=abstract&uritype=cgi?view=abstract&uritype=cgi

    ReplyDelete

Stay on topic. Be polite. Use facts and arguments. Be Brief. Do not post back to back comments in the same thread, unless you absolutely have to. Don't quote excessively. Google before you ask.