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Saturday, March 21, 2015

Mitogenomes reveal post-Neolithic gene flow from the Near East to Tuscany

Europeans probably received their Ancient North Eurasian (ANE) admixture from at least a couple of different sources. Most of it no doubt came from the Eurasian steppe during the late Neolithic/early Bronze Age, very likely with the early Indo-Europeans. But I'd say that a significant amount of the ANE in southern Europe arrived there from the Near East during and after the late Bronze with a wide variety of groups, possibly including the proto-Etruscans. Here's a new paper from PLoS One focusing on Tuscan mitogenomes that adds weight to my argument.

Background: Genetic analyses have recently been carried out on present-day Tuscans (Central Italy) in order to investigate their presumable recent Near East ancestry in connection with the longstanding debate on the origins of the Etruscan civilization. We retrieved mitogenomes and genome-wide SNP data from 110 Tuscans analyzed within the context of The 1000 Genome Project. For phylogeographic and evolutionary analysis we made use of a large worldwide database of entire mitogenomes (>26,000) and partial control region sequences (>180,000).

Results: Different analyses reveal the presence of typical Near East haplotypes in Tuscans representing isolated members of various mtDNA phylogenetic branches. As a whole, the Near East component in Tuscan mitogenomes can be estimated at about 8%; a proportion that is comparable to previous estimates but significantly lower than admixture estimates obtained from autosomal SNP data (21%). Phylogeographic and evolutionary inter-population comparisons indicate that the main signal of Near Eastern Tuscan mitogenomes comes from Iran.

Conclusions: Mitogenomes of recent Near East origin in present-day Tuscans do not show local or regional variation. This points to a demographic scenario that is compatible with a recent arrival of Near Easterners to this region in Italy with no founder events or bottlenecks.


Gómez-Carballa A, Pardo-Seco J, Amigo J, Martinón-Torres F, Salas A (2015) Mitogenomes from The 1000 Genome Project Reveal New Near Eastern Features in Present-Day Tuscans. PLoS ONE 10(3): e0119242. doi:10.1371/journal.pone.0119242


Krefter said...

Awesome paper. I can't wait to read it. I think we need genomes from Italy and the Balkans ranging some 5,000-2,000YBP to understand why they have very even MNE-YAM-SHG/WHG affinity and Middle eastern affinity.

Once people start looking through old studies with mtDNA from other parts of Europe they'll find typical middle eastern mtDNA there too.

Krefter said...

When it comes to Middle eastern-affinity in Europe academics need to stop focusing on Tuscany, just because of the Etruscans. Tuscany is apart of a trend that peaks in south Italy and Greece, and extends throughout a large chunk of Europe. The Etruscans can't be the only reason for this.

Ponto said...

I think they have made the typical haplogroup error. They assume frequency equals point of origin. They are just repeating the male R1b idiocy.

Tuscan Italians are exactly placed where they should be found in Eorope, south and east of Northern Italians and west and north of Central and South Nothing odd or peculiarly more Near Eastern than other Italians given their location. Sardinians are exceptions and Sicilians are more northern than South Italians.

Davidski said...

Let's wait and see if any Y-haplogroup J turns up in ancient DNA west of Anatolia prior to the late Bronze Age.

Alberto said...

The paper is interesting, but as Ponto said above it's nothing specific about Tuscans.

The main point is that Central Italians received a later migration (later than EEF) from West Asia (Iran, Armenia), which were ANE rich (and presumably IE) regions at the time.

Since no specific dates are available, and no ancient DNA either, we don't know yet if Italians and (for more reasons) Greeks received their ANE only from West Asia or if they received it both from West Asia and from the steppe (and if so, in which order).

Hopefully some answers in just a few days.

Alberto said...

BTW, isn't Tuscany the highest R1b region in Italy?

Davidski said...

I would say they were people like the Etruscans and Minoans and presumably non-IE.

Alberto said...

Could be, but that's just based on Herodotus kind of legend (though not necessarily wrong) about the origin of Etruscans.

The paper gives no dates about this migration, though it points to which kind of populations they came from.

So it only adds support for ANE rich migrations from West Asia to Italy (and by extension, to Greece, which are both obvious anyway). All else are assumptions (that SE Europe received migrations from the steppe and that they were earlier than this other migration).

We need to confirm or deny these other possibilities yet. But it might be in just a few days))

Mike Thomas said...

Awesome dudes.

Mike Thomas said...

Hold on,
This paper is an analysis of modern populations. Im not sure how useful it really makes it ?

Davidski said...

It's useful because they're looking at very specific full mito sequences.

Mike Thomas said...

"Let's wait and see if any Y-haplogroup J turns up in ancient DNA west of Anatolia prior to the late Bronze Age."

Are you linking the ANE appearing in Italy / Sth Europe with J2 from the southern Caucasus ?

Davidski said...

ANE probably first appeared in Italy during the early Bronze Age with people like those buried at the Nogara site, who ate millet and entered Italy from the Hungarian Plain, where there seems to have been a lot of mixing between locals like CO1 and Yamnaya-derived groups from the steppe.

So I'm linking the appearance of J2 in Europe with later gene flow from West Asia that brought some ANE, but mostly additional Near Eastern admixture.

There seems to have been a lot of action in the eastern Mediterranean at this time, and considering that people like the Etrsucans and Minoans were involved, it's very difficult to explain this with some sort of Indo-European expansion into Europe, let alone the Proto-Indo-European expansion.

Roy King said...

Fantastic! I agree that it would explain the dense appearance of J2 in Italy, particularly if J2a is the counterpart of mtDNA-U7 in Iran/Armenia. More evidence is accumulating that J2a was east/north of the Levant during the initial Neolithic (PPNB) and moved into the Eastern Mediterranean somewhat later and spread to Italy with non-IE languages during the Bronze Age. As Davidski states, we need aDNA of Y chromosomes in the Levant to confirm this model.

Nirjhar007 said...

''I would say they were people like the Etruscans and Minoans and presumably non-IE.''
On which basis if you please tell a bit:).

Mike Thomas said...


I definitely agree that the expansion of Etruscans and Minoans didn't have anything to PIE. They were a very Mediterranean route of connection. Basically, PIE was anywhere north of this.

I hope some aDNA soon comes from Italy of all places. I wonder what Neolithic Italy would have been like: Dominated by G2a ? R1b ? extinct form of I2 (like Sardinian) ?

Alberto said...

Linking this to J2 1st millennium BC eastern Mediterranean movements is a possibility. But I wouldn't jump to it straight away.

First, there are no dates about these mtDNA appearance in Tuscany. It could the be early 1st millennium BC, but it could also be 1000 years earlier.

Second, the populations from which it comes from are not very Eastern Mediterranean. It's the south western Caspian coast we're talking about.

Third, Tuscany has about half the J2 frequency than south Italy, and around twice the R1b frequency. If some mtDNA from Italy should be linked to J2 Tuscany is not the best place to look at.

Fourth, the Mediterranean movements of the 1st millennium BC are mostly for commercial and economical reasons, not real migrations. I'd bet that Y-DNA lineages spread much more than (and independently of) mtDNA lineages through these movements. Etruscans are kind of a mystery, but even if they migrated (whole families) from the Near East, who would link them directly to the south Caspian? Could be, but...

Lastly, are actually these mtDNA sequences linked to J2 in that area of Iran/Armenia or is it just a possibility like any other?

Gaspar said...

We only know that etruscans first arrived in Italy ~800BC. And we know that linguists cannot decifer fully the Etruscan language even with the 10000 words available.

They do have a high R1b and J2. was La tene in switzerland also ~800BC.?
Not saying they came from there, but if R1b came from there, then someone should investigate this

Alberto said...


"They do have a high R1b and J2."

Has Y-DNA from Etruscans been analysed? I didn't find any reference to it.

I did find this study from 2013 based on mtDNA (ancient and modern, from Etruscans, Tuscans, Anatolians and other Europeans). But they don't even give haplogroups (or I missed it):

Some of their conclusions:

"we show that the Etruscans can be considered ancestral, with a high degree of confidence, to the current inhabitants of Casentino and Volterra, but not to the general contemporary population of the former Etruscan homeland."

That is, Tuscans are mostly not direct descendants of Etruscans. Only in a couple of villages they are.

"By further considering two Anatolian samples (35 and 123 individuals) we could estimate that the genetic links between Tuscany and Anatolia date back to at least 5,000 years ago, strongly suggesting that the Etruscan culture developed locally, and not as an immediate consequence of immigration from the Eastern Mediterranean shores."

truth said...

I think the Etruscan incfluence is overrated. Tuscans are just Central Italians, and such they plot between Northern ones and Southern. Nothing more, nothing less. And their y-DNA haplogorup profile, is also intermediate between that of north and south of the country. So what is all this mystery and hype about the Etruscans ??

Alberto said...

Yes, Etruscans were probably just an italic tribe like any other. Even if they came from somewhere else (which is doubtful), their genetic impact was probably minimal.

Tuscans have the importance of being the closest we can get to ancient Romans, I guess. Both south and north of Italy have more external influences than Tuscany, though ancient DNA from Romans would be much better, obviously.

BTW, what was that thing about people who ate millet? Does it have any importance? I found this about millet:

Davidski said...

Millet was introduced into Europe from the steppe (it's recorded in Central Asia and Georgia before Europe).

It's always been an important crop for Slavs and, based on isotope data, probably also Hallstatt Celts from east Central Europe.

In Italy it's first recorded in the north in remains from the middle Bronze Age.

Davidski said...

Let me rephrase that: in Italy the widespread cultivation of millet first occurred in northern Italy during the middle Bronze Age.

Mike Thomas said...

@ Gaspar

"We only know that etruscans first arrived in Italy ~800BC"

Sorry, how do we Know this ? have I missed something ?

@ Alberto

The Late Bronze - Iron Age in Italy is a fsacinating period. lately there have been great publications. Seems like Italicazation (Indo-Europeanization) of the peninsula is somthing that can be linked to this period. That IE entities formed as a chain of territories around Ertruria is revealing.

The first IE's might have arrived considerably earlier than that, however. I suspect that IE in Italy, barring the later Alpine north italy - Celtic connection, arrived trans - Adriatically ?!

Grey said...

"it's very difficult to explain this with some sort of Indo-European expansion into Europe, let alone the Proto-Indo-European expansion."

Unless there was some kind of domino effect.

Gaspar said...

more for your etruscan papers

@mike thomas
form the paper in question:
Etruria comprised the area located between the Arno and the Tiber Rivers, corresponding roughly to present-day Tuscany, western Umbria, and northern Latium in Italy. The Etruscan civilization rose in this region around 800 BC,

Gaspar said...

Another for Alberto

Gökhan said...

"it's very difficult to explain this with some sort of Indo-European expansion into Europe, let alone the Proto-Indo-European expansion."

Agree with that. Not only J2 but also exsistence of West Asian L1b in North Italy might be explained by this. On the other hand I dont think that this migration happened in late bronze age. It might be happened in Late Neoletic or Early Bronze age about 4000-5000 years ago. Indo European expansion from steppes might took place later. In that times so called "ANE" had already took place in West Asia which was not related with PIE.

Gaspar said...

Alberto Piazza 1500 samples stated:
The samples from Tuscany show eastern haplogroups E3b1-M78, G2*- P15, J2a1b*-M67 and K2-M70 with frequencies very similar to those observed in Turkey and surrounding areas, but significantly different from those of neighbouring Italian regions. The microsatellite haplotypes associated to these haplogroups allow inference of ancestor lineages for Etruria and Near East whose time to the most recent common ancestors is relatively recent (about 3,500 years BP) and supports a possible non autochthonous post-Neolithic signal associated with the Etruscans.

Chris Davies said...

In addition to Y and mtDNA: A cursory glance at HLA alleles and haplotypes among modern-day Tuscans suggests, aside from typical European variants, some significant input from the Eastern Med via two routes: Balkans/Adriatic; & S.Italy/Sardinia. Plus some additional gene-flow from NW Africa via Sardinia.

andrew said...

I'm very wary about attributing a hot spot in a very tiny part of Tuscany with West Asian mtDNA affinities to the Etruscans. There was way to much going on in the historic era to rule out some later migration of a small community that had persistent immigration over a period of time, in much the same way that there is a big cluster of Ethiopian immigrants in Denver, and a large Near Eastern Muslim community in Detroit.

The first guy comes, prospers and brings over everybody and his cousins after him once he has a good thing going, and that sort of event could easily slip below the historic era radar leading to a cryptic origin of this community that has nothing to do with the Etruscans.

Mike Thomas said...

@ Gaspar

"Etruria comprised the area located between the Arno and the Tiber Rivers, corresponding roughly to present-day Tuscany, western Umbria, and northern Latium in Italy. The Etruscan civilization rose in this region around 800 BC,"

Thank you for your reply. But my question to you was a leading one. Yes, scholars place the rise (ie culmination of processes which led to) the Etruscan civilization to 800 BC.

But this is a very different thing to meaning that there as a de novo migration of Anatolian/ Caucasians to Ertruria at 800 BC. In fact, there is no archaeological evidence for any intrusive elements at this period.

Moreover, one has to always take the conclusion of studies such as these , which are base don modern Data, and are ultimately post hoc. The genetic history of lineages such as E-V13, J2, etc in Italy are undoubtedly complex, some f which are Neolithic, some Bronze Age, and some related to greek/ Balkan colonization.

Without actual aDNA, we can speculate and pontificate till the cows come home.

jackson_montgomery_devoni said...

@Roy King,

Of course we need ancient Neolithic DNA from these regions to confirm anything but where do you think/speculate Y-DNA haplogroup J2a was during the early Neolithic in the Near East?

Gaspar said...

@mike thomas

There is a reason in AuDna why Tuscan is always sperated from Italian and also Bergamo

Mike Thomas said...

"Separated" ?
They seem to lie within the body of Italians?
And in any case, my above point stands

Simon_W said...

Judging from Hellenthal et al. 2014 this has nothing to do with Etruscans. They dated the main admixture signal in modern Tuscans to around 942 AD (522 - 1222 AD) and found that it involved a French-like population and a Cypriot-like population (which most of all showed relations to Armenians, Syrians and Jordanians). The latter no doubt is responsible for the majority of the West Asian haplotypes in Tuscans. And the date would suggest that this is related with Byzantine people leaving their decaying empire for Tuscany, where they eventually triggered the Renaissance.

As for the Etruscans, I prefer to see them as part of the early farmers of southeastern Europe and Greece in particular. That they thus predate both the arrival of northern steppe elements as well as the arrival of J2 dominated, ANE admixed Near Easterners. But since Greece is close to West Asia, I'd suspect that they had more Bedouin-related Near Eastern ancestry than the early farmers of central Europe.

One thing is clear what regards the genetics of Italy: Tuscany is certainly not among the most strongly West Asian admixed parts of Italy, to the contrary. By West Asian admixed I mean with West Asians of the ANE-rich kind, with haplogroup J2. This haplogroup is more common in southern Italy, Sicily and parts of central Italy, but less so in Tuscany. Likewise, all admixture calculators that have both a West Asian (highland) and a Southwest Asian component see Tuscany among the least West Asian admixed parts of central and southern Italy. This doesn't gel with ancient Etruscans coming from Iran, no way.