At last some FGS-s for R0a2 from Tuscany and The Marche

[Maliclavelli]

A very interesting paper has only just been published (thanks to Ian Logan from Rootsweb): Achilli et al., Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a Whole, PloS ONE 6(6).

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0021029

 Of course the authors are interested in the medical implications, which are of course only statistical (to understand if an haplogroup is more or less linked to some disease), but this study has for us also important genealogical meanings. They have done an FGS of some samples and these are the conclusions we can draw:
1)   The samples are from The Marche (Italy).
2)   They have done an FGS also of some R0a-s I signalled for a deep test, to understand which is their origin.
3)   Exactly this haplotypes I spoke about are the R0a-s with the mutations in HVR1, beyond the two common to this haplogroup (16362 and 16126), 16266 (present in an American of Italian descent from Tuscany and an Italian from The Marche), and the mutations 16230 and 16497, present, beyond the previous paper on Etruscans of the same Achilli, in a relative of mine from Tuscany. These last mutations, even in that paper which tried to demonstrate that Etruscans came from Asia Minor, were found only in Tuscany. Now we know that Tuscany and The Marche have these haplotypes, found now also in other persons.
4)   Judging from the mutations found by an FGS, I think I can say that these haplotypes are in Italy from many thousands of years.

[Maliclavelli]

Only 2 years ago Cerny et al. wrote

“Widespread interest in the first successful Out of Africa dispersal of modern humans 60 – 80 KYA via a southern migration route has overshadowed the study of later periods of South Arabian prehistory. In this work we show that the post-Last Glacial Maximum period of the past 20,000 years, during which climatic conditions were becoming more hospitable, has been a significant time in the formation of the extant genetic composition and population structure of this region. This conclusion is supported by the internal diversification displayed in the highly resolved phylogenetic tree of 89 whole mitochondrial genomes (71 being newly presented here) for haplogroup R0a – the most frequent and widespread haplogroup in Arabia. Additionally, two geographically specific clades (R0a1a1a and R0a2f1) have been identified in non-Arabic speaking peoples such as the Soqotri and Mahri living in the southern part of the Arabian Peninsula where a past refugium was identified by independent archaeological studies. Estimates of time to the most recent common ancestor of these lineages match the earliest archaeological evidence for seafaring activity in the peninsula in the sixth millennium BC.” (Internal diversification of mitochondrial haplogroup R0a reveals post-Last Glacial Maximum demographic expansions in South Arabia, Molecular Biology and Evolution, 2010).

Now FTDNA writes under mt R0a2:

 “Mitochondrial haplogroup R0a (formerly known as pre-HV1) is a
primarily European haplogroup that was present in Europe beginning
approximately 20,000 years ago. It occurs in very low frequency
throughout Europe, and some descendant lineages of the original
haplogroup R0a appear in the Near East as a result of migration. It
was probably one of the original mitochondrial haplogroups in Europe,
and likely pre-dates the occurrence of farming in Europe. Future work
will better resolve the distribution and historical characteristics of
this haplogroup”.

These new results from Tuscany demonstrate a deep differentiation from those from the Marche tested by Achilli and a very ancient presence of this haplogroup in Central Italy, but also in the whole Italy, if Achilli found a new R0b in Sicily:

Aplogruppo - R0a2
differenze di HVR1 da CRS: 16126C 16266T 16362C
differenze di HVR2 da CRS: 60.1T 64T 263G 309.1C 315.1C
CR differenze da CRS: 750G 1438G 2355G 2442C 2706G 3447G 3847C 4769G 5585A 7028T 8860G 11914A 12885T 13188T 14766T 15326G 15626T 15674C