May 12, 2009

Y chromosome haplogroup E-M78 subtyping in Italians

The overall frequency of haplogroup E-M78 was 7.78% in the Piedmont and 11.44% in Siily, with E-V13 present at a frequency of 3.33% and 5.93% respectively. The Sicilian sample is the same as in di Gaetano et al.. The paper includes Y-STR minimum haplotype data in its supplementary material.

International Journal of Legal Medicine doi:10.1007/s00414-009-0350-y

Subtyping of Y-chromosomal haplogroup E-M78 (E1b1b1a) by SNP assay and its forensic application

S. Caratti et al.

The continual discovery of new single-nucleotide polymorphisms (SNPs) has led to an increased resolution of the Y chromosome phylogeny. Some of these Y-SNPs have shown to be restricted to small geographical regions and therefore may prove useful in the forensic field as tools for the prediction of population of origin of unknown casework samples. Here, we describe a system for the molecular dissection of haplogroup E-M78 (E1b1b1a), consisting of multiplex polymerase chain reaction and minisequencing of M78 and nine population-informative Y-SNPs (M148, M224, V12, V13, V19, V22, V27, V32, V65) in a single reaction. Sensitivity and admixture studies demonstrated that the SNP protocol allows robust genotyping from as little as 50 pg of male DNA, even in the presence of 500-fold amounts of female DNA. In order to evaluate the suitability of E1b1b1a, subhaplogrouping for population-of-origin prediction, the distribution of E-M78 and its derived variants was determined in an Italian population sample (n = 326).



Maju said...

With 4.45% and 5.51% E-M78(xE-V13), can we conclude that there is also some North African influence in Italy (as for instance the presence if JT* could suggest)? Or is it rather this sme sort of other West Asian sublineages? Or both?

Major Tom said...

I think it's more probable a near east origin or from balkan.

Maju said...

I ask because I know that some rare clades like JT(xJ,T) are shared between NW Africa and Italy and most E1b1b(xE-V13) is essentially North African.

In Iberia at least that share is clearly of North African origin and is the main (almost only) North African Y-DNA north of Gibraltar. Curiously enough its distribution doesn't seem to have anything to do with historical Muslims or Phoenicians but rather with Megalithism, I'd say.

Major Tom said...

So I think. You can see the map of Cruciani's 2007 study.

In Europe it is more present in Greece and in the Balkans. I believe that it has spread from the Anatolia in direction NW and NE , while in Iberia it arrived from the North Africa through the easy passage of Gibraltar. I don't think that that people were skilled to cross the sea from Tunisi to Sicily in that time.

Maju said...

Sorry, you're right. I was confusing E1b1b1a-M78 with the wider category E1b1b-M215.

Anonymous said...

What time was that? The ancestors of the Australian Aborigines, a Stone Age people, managed to make a sea voyage to Australia more than 50 kya. I think the short piece of water from Africa to Sicily via Pantellaria is easily achievable especially during times of lower sealevels.

Haplogroup E is most likely an Asian continent originated haplogroup which re entered Africa and became the commonest haplogroup in Africa. I guess its commonness in sub Saharan Africa is the problem with its presence in Europe. Just from that diagram of E-M78, it shows a number of spread out centres of high frequencies, it can be seen to be an old subgroup of haplogroup E, older than most of the races and ethnicities that now currently sport that sub group. The North African, Balkan, Ethiopian, Eqyptian/Sudan Centres show that any implications of admixture in Italians or other Europeans with E-M78 is pointless in such a widespread and old sub group.

Major Tom said...

A lot of hypotheses have been made on the place of em-78 origin . I don't know if it was born in the Balkans or in Egypt or still in Africa's Horn, but almost certainly it went to Italy from east, even if I think that it is preceding to the historical Greek colonization. That people had not elaborated an inclusive idea of nation yet, we can call them Greek pre. I remember that the old scholarses called them Illirians, intending however a different meaning from that the Illirians of historical age.
Cavalli Sforza has counted 9 different migratory waves from Anatolia toward Europe, but it can be possible that some em-78 can be arrived from the north Africa, but jast a little.

In the Balkans and in Italy em-78 is present together with ev-13, that is absent elsewhere.

Maju said...

@Ponto: you can't really argue that "haplogroip E is Asian originated". That claim conflicts with all the available data. All E subhaplogroups except E1b1b are exclusively African (an more specifically Tropical African). E1b1b is North African and, additionaly, is also found in West Asia, Europe and some other parts of Asia (but the highest diversity is in Africa by far). Only a sublineage like E-V13 can claimed to be European, though is actually derived from a Palestinian source - surely with a southern Anatolian intermediate stage, via founder effect.

Another question would be where did DE actually split? In Africa or Asia, as it seems DE* has been found in both continents (though most commonly in Africa in spite of poorer research) but that's irrelevant for E as such.

@Major Tom: E1b1b1a (M78) surely arose at the Nile and spread with either Afroasiatic languages or Epipaleolithic microlithism or both. As did all E1b1b.

Mathilda (whose blog is surely one of the few focused in North Africa, seach for relevant articles) has been researching the issue and, while I don't always agree with her, she certainly seems to have a point about E1b1b1a migrating to Palestine within the Kebaran genesis. After which, V13 seems to have got lucky in the somewhat related Southern Anatolian Neolithic and caused a major founder effect in the Balcans.

IMO, a good deal of the mtDNA L(xM,N) found in North Africa (and even in West Asia) is not (as has been happily claimed) product of trans-saharan slave trade but rather a remnant of the migration of E1b1b peoples (possibly of Afroasiatic language) at Epipaleolithic from the Nile area over an older layer of almost exclusively West Eurasian origin (best represented in the mtDNA). The fact that some 7% L(xM,N) found in Canarian pre-colonial aDNA strongly supports this idea.