Brief review of recent mtDNA H info

Haplogroup H (mtDNA) has been popping up at Dienekes' and Mathilda's blogs several times as of late. In order to keep a clear reference, here is the list of the papers:

1. V. Alvarez-Iglesias, A. Mosquera-Miguel et al. New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0. PLoS-ONE, 2009. (open access)
2. H. Ennafaa, V. M Cabrera et al. Mitochondrial DNA haplogroup H structure in North Africa. BioMed Central Genetics 2009. (open access)
3. L. Cherni et al. Post-last glacial maximum expansion from Iberia to North Africa revealed by fine characterization of mtDNA H haplogroup in Tunisia. American Journal of Physical Anthropology, 2008. (abstract only - full paper behind paywall)
4. D. Caramelli et al. A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences. PLoS-ONE, 2008. (open access)
5. H. Chandler, B. Sykes and J. Zilhao. Using ancient DNA to examine genetic continuity at the Mesolithic-Neolithic transition in Portugal. Actas del III Congreso del Neolítico en la Península Ibérica, 2005. (PDF - freely accessible)

Fig. 3 from paper #1
H subclades' distribution in Europe, West and Central Asia

(1) and (2) are just out of the oven and it is really nice that such important papers are open access. (1) covers Europe, West Asia and Central Asia, while (2) focuses in North Africa (with context references for West Asia and Iberia), being the perfect complement of (1), illustrating how West European H1 and H3 comprise the largest part of North African H (which in turn is 25% of all regional mtDNA). (3) is sadly behind a paywall but the main conclusion visible in the abstract: Although no signs of local expansion were detected, which would allow a clear dating of their introduction, the younger and less diverse Tunisian H1 and H3 lineages indicate Iberia as the radiating centre.

(4) is a most important research that has found CRS haplotype in the HVR-I (most likely H) in a 28,000 years old individual from Paglicci Cave, Puglia, Italy. This discovery clashes directly with he usual MCH hunches that make this subclade much recent and document that haplogroup H and at least some of its subclades were already common in the early Gravettian and are no modern developement at all. (5) is an older yet relevant paper that shows that haplogroup H was strongly dominant in both Epipaleolithic and Neolithic Portuguese, along with some U and less important clades.

Overall it seems reasonably clear that H expansion dates at least from Gravettian times (no other cultural group has been so pan-European ever) and that its expansion into North Africa suggest that Iberomaurusian (Oranian) culture was with all likehood derived from Southern Iberian Gravetto-Solutrean. It also seems very clear that the DNA "molecular clock" does not seem to be ticking at the usually speculated rythms at all.

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Update: Another paper on aDNA, including H, that I had forgotten is R. Kèfi et al. Diversité mitochondriale de la population de Taforalt (12.000 ans bp - maroc): une approche génétique a l’étude du peuplement de l’afrique du nord. Anthropologie 2005. Reviewed and translated in its essentials by Mathilda several months ago [note: previous link has gone broken but I found a Power Point direct download from Pasteur Institut].

The HVS-I haplotype sequencing of 23 bone remains from Taforalt cave, Morocco, yielded the following results:

· H or U (CRS, most likely all H): 11 (47.8%)
· H (not CRS): 4 (17.4%)
· JT: 3 (13%)
· U6: 2 (8.7%)
· V: 2 (8.7%)
· L3, M or N: 1 (4.3%)

JT means JT(xJ,xT), a very rare finding, exclusive nowadays of North Africa and Italy. The authors mention that this same mtDNA pool is the one found among modern Notheren Moroccan Berbers who live in that same area.
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