August 26, 2010

Analysis of Ashkenazi Jewish genomes (Bray et al. 2010)

The paper hasn't gone live at the PNAS site as of this writing, but here is part of the press release. The abstract and my comments on the paper will be posted here (after I get through the zillion other interesting papers that the last week of August seems to have brought us):
Investigators in the laboratory of Stephen Warren, PhD, chairman of human genetics at Emory University School of Medicine, used DNA microarray technology to read variant sites across the entire genomes of 471 Ashkenazi Jews. The work comes from a collaboration between Warren and Ann Pulver, ScD, associate professor of psychiatry and behavioral sciences at Johns Hopkins University School of Medicine, who recruited the participants for a study of schizophrenia genetics.

Researchers looked for close to one million single nucleotide polymorphisms (SNPs): common alternative spellings in the genome, analogous to American and British spellings of words such as organize/organise. One measure of genetic diversity in a population is heterozygosity, or how many of the SNPs inherited from the mother and father are different; a more inbred population has less heterozygosity.

"We were surprised to find evidence that Ashkenazi Jews have higher heterozygosity than Europeans, contradicting the widely-held presumption that they have been a largely isolated group," says first author Steven Bray, PhD, a postdoctoral fellow in Warren's laboratory.

...

High linkage disequilibrium can come either from an isolated population (for example, an island whose residents are all descendents of shipwreck survivors) or the relatively recent mixture of separate populations. Bray and his colleagues did find evidence of elevated linkage disequilibrium in the Ashkenazi Jewish population, but were able to show that this matches signs of interbreeding or "admixture" between Middle Eastern and European populations.

The researchers were able to estimate that between 35 and 55 percent of the modern Ashkenazi genome comes from European descent.

"Our study represents the largest cohort of Ashkenazi Jews examined to date with such a high density of genetic markers, and our estimate of admixture is considerably higher than previous estimates that used the Y chromosome to calculate European admixture at between five and 23 percent," Bray says.

...

"Only six of the 21 disease genes that we examined showed evidence of selection," Bray says. "This supports the argument that most of the Ashkenazi-prevalent diseases are not generally being selected for, but instead are likely a result of a genetic bottleneck effect, followed by random drift."
The new paper comes in the heels of two other papers by Behar et al. and Atzmon et al. which considered Jews in general, discovering additional clusters of Jews that were distinct from Ashkenazi Jews. As I have argued in my review of these papers, the different clusters are not the result of isolation, as the different groups of Jews do not only deviate from each other, but also in the direction of their host populations. It would be worthwhile to perform similar admixture analyses on non-AJ populations to determine what their influence from host populations is. With a little effort it would be possible to reconstruct the ancestral Jewish population, by identifying what is common in the different Jewish populations.

UPDATE: The paper is now online and is open access.



From the paper:
The fixation index, FST, calculated concurrently to the PCA, confirms that there is a closer relationship between the AJ and several European populations (Tuscans, Italians, and French) than between the AJ and Middle Eastern populations (Fig. S2B). This finding can be visualized with a phylogenetic tree built using the FST data (Fig. S2C), showing that the AJ population branches with the Europeans and not Middle Easterners. Two recent studies performing PCA and population clustering with high-density SNP genotyping from many Jewish Diaspora populations, both showed that of the Jewish populations, the Ashkenazi consistently cluster closest to Europeans (13, 25). Genetic distances calculated by both groups also show that the Ashkenazi are more closely related to some host Europeans than to the ancestral Levant (13, 25). Although the proximity of the AJ and Italian populations could be explained by their admixture prior to the Ashkenazi settlement in Central Europe (13), it should be noted that different demographic models may potentially yield similar principal component projections (33); thus, it is also consistent that the projection of the AJ populations is primarily the outcome of admixture with Central and Eastern European hosts that coincidentally shift them closer to Italians along principle component axes relative to Middle Easterners. Taken as a whole, our results, along with those from previous studies, support the model of a Middle Eastern origin of the AJ population followed by subsequent admixture with host Europeans or populations more similar to Europeans. Our data further imply that modern Ashkenazi Jews are perhaps even more similar with Europeans than Middle Easterners.
The bolded part reminds me of what I wrote in my review of Atzmon et al. regarding the choice of parental populations and how they affect admixture estimates. The "Middle Eastern" component estimate will increase if central and eastern Europeans are used as representative of the European admixture, while the "European" estimate will increase if Italians are used. But, the same applies to the other end of the continuum: if ancestral Jews were indeed like current Middle Easterners such as the Druze or Palestinians, but the latter may have moved (in genetic space) away from ancient Levantines due to subsequent admixture (Arabs, and in the case of Palestinians even Africans): this would reduce the inferred Middle Eastern component.

Estimating admixture percentages in the absence of clear knowledge about parental populations is no easy thing, but the intermediate-leaning-on-Europe status of AJ relative to living Europeans and living Middle Easterners seems to be a pretty secure conclusion.

PNAS doi: 10.1073/pnas.1004381107

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

Steven M. Bray et al.

The Ashkenazi Jewish (AJ) population has long been viewed as a genetic isolate, yet it is still unclear how population bottlenecks, admixture, or positive selection contribute to its genetic structure. Here we analyzed a large AJ cohort and found higher linkage disequilibrium (LD) and identity-by-descent relative to Europeans, as expected for an isolate. However, paradoxically we also found higher genetic diversity, a sign of an older or more admixed population but not of a long-term isolate. Recent reports have reaffirmed that the AJ population has a common Middle Eastern origin with other Jewish Diaspora populations, but also suggest that the AJ population, compared with other Jews, has had the most European admixture. Our analysis indeed revealed higher European admixture than predicted from previous Y-chromosome analyses. Moreover, we also show that admixture directly correlates with high LD, suggesting that admixture has increased both genetic diversity and LD in the AJ population. Additionally, we applied extended haplotype tests to determine whether positive selection can account for the level of AJ-prevalent diseases. We identified genomic regions under selection that account for lactose and alcohol tolerance, and although we found evidence for positive selection at some AJ-prevalent disease loci, the higher incidence of the majority of these diseases is likely the result of genetic drift following a bottleneck. Thus, the AJ population shows evidence of past founding events; however, admixture and selection have also strongly influenced its current genetic makeup.

Link

47 comments:

onur said...

In population genetic studies, similar amounts of individuals should be sampled from each population in order to prevent any potential distortion arising from disproportional sampling. Unfortunately, Ashkenazi Jews are oversampled in this study compared to all other populations, so this is probably why in this study we see them too removed from both Europeans and Middle Easterners in both PCAs and frappe analyses.

That isn't the case in the Atzmon et al. and Behar et al. studies in which Jewish populations are much more proportionately sampled, so this is probably why in those studies West Eurasian Jews (Ashkenazi or not) appear fully aligned in the European-Middle Eastern genetic continuum in all analyses.

princenuadha said...

I'm very curious about the small but noticeable blue (central Asian) component in the Cambodians. In this case central Asia means Afghanistan, Pakistan, and the surrounding areas. Since China lacks this CA component I assume that Cambodia's relatedness to central Asia occurred via migrations in the south. The overlap between Cambodia and central Asia may reflect both their relatedness to the already theorized ancient southern migration along the Indian ocean passing throughout both India and southeast Asia and continuing to Australia.

Or it could just be casual gene flow from CA to India, to Southeast Asia.

Average Joe said...

Quotes:
(1) The researchers were able to estimate that between 35 and 55 percent of the modern Ashkenazi genome comes from European descent.
(2) it is also consistent that the projection of the AJ populations is primarily the outcome of admixture with Central and Eastern European hosts that coincidentally shift them closer to Italians along principle component axes relative to Middle Easterners.

I guess this means that Helen Thomas was right.

http://www.youtube.com/watch?v=bwXTpoYPAAQ

n/a said...

"Only six of the 21 disease genes that we examined showed evidence of selection," Bray says. "This supports the argument that most of the Ashkenazi-prevalent diseases are not generally being selected for, but instead are likely a result of a genetic bottleneck effect, followed by random drift."

From the paper: "Cochran et al. (14) speculated that selection of many of the AJprevalent disease loci, especially the lysosomal diseases, conferred an increase in intelligence that was necessary historically for the AJ economic survival.Our data shows evidence of strong selection at or near only six disease loci, including only one out of the four AJprevalent lysosomal storage diseases, thus arguing that most AJ disease loci are not under strong positive selection, but rather rose to their current frequency through genetic drift after a bottleneck. However, we cannot exclude the possibility that selection of some AJ disease loci are outside the limits of detection by the extended haplotype tests, which are known to have less power to detect selection of lower frequency alleles (38, 41)."

princenuadha said...

Another interesting thing I notice is that there is a tiny bit of NA in every population but oceania, southeast Asia, Sardinia, and Africa. I'm not sure whether its a reflection that north Eurasians split off from NA later than southern populations or if it just represents gene flow. If the first is correct it would counter the idea that people migrated from SE Asia into North America.

In addition to my first post I note that Cambodians also have a very small Oceania component, along with the other two Southeast Asian groups. But Cambodia is still the only east Asian group with the central component.

Could someone please give me the genetic distances from Australia to other parts of the world?

Gioiello said...

"The fixation index, FST, calculated concurrently to the PCA, confirms that there is a closer relationship between the AJ and several European populations (Tuscans, Italians, and French) than between the AJ and Middle Eastern populations".

For having said this some years ago I was banned twice: first from "Rootsweb" and after from "dna-forums".

Now I am waiting to win also upon the other theory of mine: the Italian Refugium.

onur said...

I'm very curious about the small but noticeable blue (central Asian) component in the Cambodians. In this case central Asia means Afghanistan, Pakistan, and the surrounding areas. Since China lacks this CA component I assume that Cambodia's relatedness to central Asia occurred via migrations in the south. The overlap between Cambodia and central Asia may reflect both their relatedness to the already theorized ancient southern migration along the Indian ocean passing throughout both India and southeast Asia and continuing to Australia.

Or it could just be casual gene flow from CA to India, to Southeast Asia.


Cambodians have very small but noticeable South Asian admixture. Recent McEvoy et al. and Xing et al. papers also confirm that:

http://dienekes.blogspot.com/2010/08/rare-genomic-look-at-aboriginal.html
http://dienekes.blogspot.com/2010/07/more-uniform-sampling-of-human-genetic.html

Xing et al.'s paper additionally tests Thais and they show even more South Asian admixture.

Pakistani populations are in general genetically more Dravidoid - thus more South Asian - than Caucasoid (again see Xing et al.), so the Pakistani populations in this study represent South Asia more than Central Asia or any other region of the world. Therefore, no need to connect the blue component to any hypothetical gene flow from Central Asia to Southeast Asia via South Asia, it is very probably (look at the above papers) simply just a remnant of the ordinary South Asia-to-Southeast Asia gene flow.

Another interesting thing I notice is that there is a tiny bit of NA in every population but oceania, southeast Asia, Sardinia, and Africa. I'm not sure whether its a reflection that north Eurasians split off from NA later than southern populations or if it just represents gene flow. If the first is correct it would counter the idea that people migrated from SE Asia into North America.

It must be the first one that is correct as gene flow from Amerindians to such a big and diverse territory is not only very implausible but also genetically refuted so far.

In addition to my first post I note that Cambodians also have a very small Oceania component, along with the other two Southeast Asian groups. But Cambodia is still the only east Asian group with the central component.

Negritos of Southeast Asia may have some genetic similarity to Australoids, so very small Negrito admixtures in Southeast Asian populations may have drawn them a bit to Australoids.

pconroy said...

Gioiello,

The thing to remember though is that AJ's being close to Tuscans does NOT necessarily mean that they are related.

Consider for example a 23AndMe relative, who is 1/4 Irish, 1/4 Jewish and 1/2 Chinese, however on plots she shows up as Kalash/Hazara?! So if I didn't know anything about her, I would assume she is from Central Asia, and would be very wrong. In a similar fashion, AJ's are known to be a have a mix of Middle Eastern or Anatolian/European or European-like population. But then so are Tuscans?! So they would be similar for those reasons, irrespective of historic admixture with Tuscans, right?

pconroy said...

Sorry that should be Uyghur/Hazara

Gioiello said...

Conroy, everything started when I was found R1b1b2a and had many Ashkenazim linked to me: they thought I was Jewish, I thought they were Italians (or Tuscans). But while I was a possibilist, ready to accept every documented origin: Jewish, Etruscan, German etc., they did the exam for demonstrating that they were “Jews”, from Ancient Israel, linked with Abraham, then with God.
If you remember I have been banned from two forums (Rootsweb and “dna-forums”) for this and other. Then I was found by the Dienekes’ calculator run by Warwick (Justin Loe) 23% Ashkenazim, but I have a paper trail that demonstrates I am Tuscan from both line from at least 800 years. My mitochondrion is K1a1b1, the direct ancestor of a great part of Ashkenazim (K1a1b1a), and, having the 9932A mutation, a Jew wrote to me on Amazon.com, where I had reviewed “The invention of the Jewish People” of Shlomo Sand, that I for this was a Jew (probably who wrote to me had a special link with FTDNA).
I know History and know that Ashkenazim derive from a few thousands who migrated from Italy to the Rhine Valley, passing across my country and having lived for century here.
The link among Ashkenazim, Tuscans (above all), Italians and French is based on the same principle that is at the ground of the Dienekes’ calculator, of Family Finder, of 23andME Relative Finder etc. It isn’t only a convergent casual result as you are thinking. Probably has something to do with haploblocks, seen by some SNPs.
When the Jewish scholars who are testing ancient bones in Israel will communicate their results, we’ll know also how much of Middle Eastern is in Ashkenazim and how much perhaps from North Africa, Asia Minor, Balkans, Khazar etc.

Jack said...

I have always considered a prehistoric population expansion from Italy a probability for several reasons, last but not least because otherwise Italy would be the only place in Europe that never had one. This is why, right or wrong, I found it very easy to agree with Gioiello.
That Jews actually originated in Italy or Tuscany is more difficult to accept. Just because a couple of markers show up in Tuscany or Italy doesn't mean much. Did we not see that most Jewish groups are closest to Druse, Cypriots and the like? Are they Italian too? Besides if we go back a feww million years we are all related. I still have a great great... great granduncle swimming in the bottom of the ocean.

Gioiello said...

Jack, I thank you for supporting the Italian refugium (in my postings, from many years, I have explained at which conditions).

Re. Ashkenazim also the paper speaks of admixture, from 35 to 55%. The problem for Jews, as I have said in my previous posting, is if the remained 65-45% is all "Jewish" or not.

The fact that all beings, plants and animals, have the same origin is one of the principle of the Theory of Evolution, but there is someone who is in mourning because the paper of Myers has demonstrated
his subclade more scanty than he thought.

onur said...

Gioiello, based on a similar logic, Uyghurs and Hazaras can be the same people as they appear genetically almost the same in every genetic study.

Average Joe said...

That Jews actually originated in Italy or Tuscany is more difficult to accept.

Particularly if one is familiar with a little book known as the bible which claims that the Jews originated in the Middle East. ;)

onur said...

That the original Jews lived in the Iron Age kingdom of Judah (hence the name Jew) in Canaan, the Middle East, is not disputed, as it is confirmed not only by the Bible, but also by the writings of Egyptians, Mesopotamians, Levantines during the Iron Age (thus contemporary with the Kingdom of Judah), later of Persians and finally of Hellenes and Romans. The only point in dispute is the degree of genetic connection between the original Jews and the modern Jews - whether Ashkenazi or any other modern Jewish group - and this has nothing to do with religion - at least for a non-Jew - and I am saying this as an atheist.

Annie Mouse said...

@Gioiello

You might want to test with 23 and Me. People with Ashkenazi ancestry (even just a little) show up with a vastly greater number of cousins than expected for their geographic origin.


It is by far the clearest test of Jewish ancestry that I have ever seen. A typical USA person has about 350 cousins. A 25% Ashkenazi has over 1000. I would expect an Italian to have less than 50 cousins. Ashkenazi ancestry would boost this to a few hundred (approximately).

As I am sure you know, many Jewish folk can be expected to have quietly reintegrated into the community, and no genealogy can be assumed to be 100% accurate.

I suppose you could argue that the Italians were ancestral to the the Jewish population. But I doubt these very old autosomal segments would have persisted for so long, whereas the haplogroups could have.

So if you get lots of Ashkenazi cousins in 23 and Me then this points to a more recent Ashkenazi connection.

Gioiello said...
This comment has been removed by a blog administrator.
Jack said...
This comment has been removed by a blog administrator.
Grendal said...
This comment has been removed by a blog administrator.
Gioiello said...
This comment has been removed by a blog administrator.
Gioiello said...

I don’t know if someone has noted before that the modal for R-L23* (see Table S2) in Switzerland
(14, 12, 13-28, 24, 11, 14, 12, 12, 11) is the same of the Jewish R-L23*. Some Jew, like Sean Silver, may think that they are the remnants of the Jews that migrated from Italy to the Rhine Valley (I have always said the contrary).
There is a research, that of Wayne Kaufman on the Burkholder and the SNP L277, that is trying to shed light on the question (mysterious is the third tested with this SNP: from India said CeCe More). This cluster has DYS385=13-28, DYS392=14 but DYS393=13 and DYS461=12.
I suggested to Kaufman to search, beyond Switzerland, also on the mountains of Central Italy (see D’Aurora: Ysearch ID RD6J3), who maintains the original DYS393=12.

DagoRed said...

I had already mentioned in other post of the political problems on the Ethiopian Falashas that are a native population of the Africa's Horn and not "true Jews."
Already the State of Israel had problems when was discovered that half of the Russian immigrants in Palestine, in the years 70/80, were false Hebrews.
Now what would happen if it discovers that the Askenazis are in reality, for the majority, European converts?

horacioh said...

http://www.nature.com/news/2010/100603/full/news.2010.277.html
See, Comment 11149 and 12952 with table 1 -partial-, remember that the sibling Hg "M" and "N" -from "L3"- too correspond to East African origin, and are not included at all-see complete table 1, in reference-.

Ethiopian and Ashkenazim are both true jews, the "L2" mtDNA marker is present in the two populations also the derived and sibling mtDNA Hg "M" and "N", as well as the Y markers Hg E3b and 4s too, all of this from East Africa and so. They belong respectively at one of the three nucleous or center jewish ancient populations, that evolving the called "Syrian-European nucleous"(helenistic and Roman times).
The oldest center -Ethiopians belong these- were that developed in Napata and Elephantine (Kush) and whose nucleous or center was after Alexandria, and I called "Coptic Nucleous" derived in two bias, and split forwards the North via Europe -intermixed with the Syrian Europe nucleous- or the South, via Nile and the Horn Of Africa.
The "Babilonian and Persian nucleous" is other of the above three mentioned centers and included Bukara, Iranian and Iraki mainly.
All of this Nucleous take Judaea and Israel like a axis and pendulo.
Another fourth Nucleous or center I call "East Europe" -not mainly conected with ME-, is not ancient like the three others and was the Jewish Khazar Empire stiring into Askenazy current population and others. All of this events were naturaly intrajewish asimilations in all jews current populations.

Dr Hector H. Otero C.
Argentina.

Ponto said...

Well I don't believe in any book claiming some hot line to the Divine. So whatever it says about Judah, Jews, California, statues with clay feet, burning bushes that don't burn and talk, I couldn't give a flying fig about. All I am interested is in what can be proven. Jews have ancestry that tracks to the eastern side of the Mediterranean Basin. Well so do Greeks, Italians, Spanish, in fact most Europeans except Finns, the odd balls of European genetics. Most of those studies are biased. What is European? What is Middle Eastern? What was European 12,000 years ago? One thing is sure, fair pigmentation in modern humans was not, neither was the ability to digest raw milk nor I.E languages. In fact those so European attributes are younger than 10,000 years in Europe. The commonest haplogroups in Europe all had an extra European origin. When you use Utah Mormans from the USA as exemplars of European then any genetic studies are off for a start. Most of those studies don't use Southern Europeans like Portuguese, Spaniards, Greeks, Albanians, Slavic Balkanians, Anatolian Turks and real Levantines like Lebanese or Syrians nor Africans from Libya or Egypt. Bergamo Italians are Central Europeans genetically, and Tuscan Italians are close to being Central Europeans, neither are proxies for Southern Europeans.

When studies start using real Europeans from a number of countries and not weird ones like Basques or Sardinians, things will start looking realistic, and the Jews' place in the landscape of Europe and the Middle East will be properly worked out.

For all its worth, Jews are basically Italians and Greeks, the descendants of converts with a little Middle Eastern admix. Yes I believe in a European genesis for Ashkenazim and Sephardic Jews. An Iranian genesis for Iranian Jews, an Arabian origin for Yemeni Jews, an Indian origin for Indian Jews, and yes, a Middle Eastern origin for Iraqi Jews.

princenuadha said...

How would I get the genetic distance (or Fst values) between unmixed australiods and the rest of the world's populations? Like What dynekes did with the Yoruba.

I'm curious about the distances from this relatively isolated southern population. I'm also curious about their migration and what they left along the way.

horacioh said...

The Ashkenazim hyperploydia is explained by the superposition and overlay of diverse fount or source population , that are all of this of Jewish origin (that consider converted into intraJewish assimilations) , one coming from the “Syrian European nucleous” – that Sephardic as well as preAshenazim bring inside -. The other convergence were the “Coptic Jewish nucleous”, coming from Alexandria, the main and largest Judaic center in ancient times – the buried and graves in Jewish graveyards and catacombs of Tuscan, and Alsace as too Rhineland cities take a lot of Egyptian ornaments and display figures from these, as well as Y and mtDNA markers - . The great Jews migration from Egypt beginning after the Muslim invaders from Arabia in the VII AE century. The “Babylonian and Persian nucleous” take place and contacts newly with and when the “preAshenazim second fase” were migrating to the East Europe. A remarkable contact was with the fourth “East Europe Jews nucleous”-not related or little related with ME-, with the descendant of the Jews Khazarians ones, spreading every where and carrying a lot of East Europe and Eurasian markers. That happen between the XI and XII century AE.
The Tuscan host populations come from Anatolia like infers mtDNA markers, and others, yet present today – a thread Etruscan link - and are so common in South East Basin like Albanian, Grecian, Tunisian and Anatolian , as well as the entirely Italy and some South France spots, practical absent in center or North Europa or East Asia.
Dr Hector H. Otero Cohen.
Argentina.

Jack said...

Ponto,
Tuscans are what they are, they are but ok for a Southern European proxy, depending on what you consider South Europe. I do not think they are a good proxy for Italians proper because their gene pool is screwed up by the probable admixture event of the etruscans. Neither are parts of the regions of Calabria, Sicily and Puglia for similar reasons.
As for Jewish History I still bet on their ME origin (which is what studies have alway indicated) with obvious admixtures here and there. That Euro Jews probably have a 30-40% Euro component has been "known" for years. No news here.

terryt said...

"The overlap between Cambodia and central Asia may reflect both their relatedness to the already theorized ancient southern migration along the Indian ocean passing throughout both India and southeast Asia and continuing to Australia".

Far more likely to reflect Indian connections over the last 2000 years. We know of such contact because several India religions have been introduced to the region: Buddhist, Hindu and Muslim. Also the Cambodians I have met all look more 'Indian-like' than do Malays for example.

"Uyghurs and Hazaras can be the same people as they appear genetically almost the same in every genetic study".

They probably are, just speak different languages. But tribalism is very much alive and kicking still today, as shown by the arguments over who is or isn't a Jew. Still it's interesting as to the genetic composition of various populations.

onur said...

Far more likely to reflect Indian connections over the last 2000 years. We know of such contact because several India religions have been introduced to the region: Buddhist, Hindu and Muslim. Also the Cambodians I have met all look more 'Indian-like' than do Malays for example.

Yes, read my second post.

They probably are, just speak different languages. But tribalism is very much alive and kicking still today, as shown by the arguments over who is or isn't a Jew. Still it's interesting as to the genetic composition of various populations.

A few weeks ago I wrote a post in Razib's blog seriously asking whether Uyghurs and Hazaras are the same people. So I am already open to that possibility. But I think we should first investigate more populations from Central Asia together in order to say anything conclusive on this matter.

alfio said...
This comment has been removed by the author.
alfio said...
This comment has been removed by the author.
alfio said...

Jack said:
"Ponto,
Tuscans are what they are, they are but ok for a Southern European proxy, depending on what you consider South Europe. I do not think they are a good proxy for Italians proper because their gene pool is screwed up by the probable admixture event of the etruscans. Neither are parts of the regions of Calabria, Sicily and Puglia for similar reasons."


What does it mean screwed up?
Then it is screwed up the ones of many central europeans too who in 23andme cluster with Tuscans.
You can't compare too the history of Tuscany with the ones of Puglia, Calabria and Sicily, since Tuscany never been affected by historical muslims and phoenicians and recent studies shown any link between Tuscans and Etruscans.
Plus Tuscany has had three waves of germanic people too which gave rise to dukedome of Tuscia while nothing like that happened in south Italy.
There is a bit of m.e admixture in autosomal tests(and i suspect the samples were the ones only from Murlo and Volterra to biasedly claim tuscans are etruscans)like even french show a little; Then how many people all over Europe lack in those tests who could have the same admixture if not more than Tuscans?

Ponto is right Tuscans are more central europeans than others and can't be used as south Europe.

It seems to me that many people try to label tuscans only because of etruscans, when there are many more people more admixtured than them.

horacioh said...

A recent study identified among modern Tuscans a rather high prevalence of Near Eastern mtDNA haplogroups and an exclusive haplotype sharing between them and Near Eastern populations.
Tuscans are a tipical South population mixed with Romans and others.
The typical Near Eastern U7 haplogroup occurs at relatively high frequency in the Elba Island (~17%; 9 mtDNAs out of 53), and all of these U7 mtDNAs share the same HVS-I motif (T16271C-A16318T-T16519C), indicating that this lineage could represent a Near Eastern founder in the Isle.

Gioiello said...
This comment has been removed by a blog administrator.
alfio said...

"A recent study identified among modern Tuscans a rather high prevalence of Near Eastern mtDNA haplogroups and an exclusive haplotype sharing between them and Near Eastern populations.
Tuscans are a tipical South population mixed with Romans and others.
The typical Near Eastern U7 haplogroup occurs at relatively high frequency in the Elba Island (~17%; 9 mtDNAs out of 53), and all of these U7 mtDNAs share the same HVS-I motif (T16271C-A16318T-T16519C), indicating that this lineage could represent a Near Eastern founder in the Isle."



Hardly Elba isle is representative of the whole Tuscany since it is an isle, and you could find middle eastern haplogroups from Greece to England. Plus i laugh at all these claim since many of the haplogroups they stated as Turks can be find in Wales too.

So keep your middle eastern pride away from tuscans and take a look at 23andme to see if tuscans are so middle easterners as you would like to claim.

alfio said...
This comment has been removed by the author.
alfio said...

"The typical Near Eastern U7 haplogroup".

I don't believe, since U7 reach its higher peak in western India and not in the middle east , furthermore it does not go beyond the 12% in India.
I find difficult that Elba people got more.

Tuscany is not at all a southern country "mixed" with romans, if anything before etruscans there were villanovians and after ligures and even some celts like apuanes.
Tuscany is where it should be with more affinities with north Italy than the south.

alfio said...
This comment has been removed by the author.
alfio said...
This comment has been removed by the author.
alfio said...

I have found the study you posted and you arbitrarily missed this point, out of an undetermined biased claim:

"The investigation of a large and representative sample set and the analysis of complete mtDNA genomes support the hypothesis that Tuscany still preserves the fingerprint of a historical connection with the Near East. However, it should be stressed that this represents just a minor component of the Tuscan genetic make-up and suggests that historically different layers were superimposed over the Mesolithic gene pool of the Peninsula."

Note added in proof:

Analysis performed by coalescent simulations21 suggested a model with little or no continuity between Ancient Etruscans and Modern Tuscans. However, the ancient dataset was extremely small and only a larger sample size would set the issue of diachronic continuity in Tuscany."




I'm fed up of people trying to portray Tuscans for what they are not.

DagoRed said...

Mixed with Romans... and who are these Romans? To follow the ancient histories is fascinating but it is a little scientific.
For the ancient Greeks everything had origin in their world, when they met new peoples soon they invented an origin from a well knowned place.

horacioh said...

The only I want to explain is the connection between the Tuscan and the Jews Ashkenazim, that could be understand by the relation with ME.
We know that the great Etruscan civilization were the base of the development of arts, science, tongue influence and blood traits – very fit to them and spread into others parts of Italy and with very biochemist study made -.
Remember that Romulo and Remo come from Etruria actually Tuscania and North Latio in Tarquinia spot (boundary city) en etrusco, Tarchnal o Tarch.
All Presences of mythological issues “grecoetruscos”, like were Romulo and Remo also for example “the deer of Télefo”, and “the Wolf of Bolonia”- central Italy- and so.
The patronymic of places and names of Central Italy are well known and decoded from Etrurian inscriptions.
The link between Etruscan and Greeks were by Ships and ground travels in history times, then with the Latin Romans, all of these wonderfully cultures of South Mediterranean Basin like are common sense.
See too :European Journal of Human Genetics (2009) 17, 693–696; doi:10.1038/ejhg.2008.224; published online 3 December 2008,Francesca Brisighelli et al.
The Etruscan timeline: a recent Anatolian connection

The origin of the Etruscans, one of the most ancient and enigmatic non-Indo-European civilizations.

"The finding has been interpreted as evidence in support of the classical theory that Etruscans may have come from the East through the Mediterranean Sea (Herodotus, Historiae, Vol I, p 94), which currently find little support by archaeologists and historians.2 In favor of the Eastern Mediterranean origin of the Etruscan civilization, the finding that the extent of mtDNA variation observed in Tuscan cattle breeds is similar to that observed in the Near East and much higher than that observed in the rest of Italy and Europe."
Dr. H. H. Otero C. -biochemist-
Argentina

alfio said...

"The only I want to explain is the connection between the Tuscan and the Jews Ashkenazim, that could be understand by the relation with ME.
We know that the great Etruscan civilization were the base of the development of arts, science, tongue influence and blood traits – very fit to them and spread into others parts of Italy and with very biochemist study made -.
Remember that Romulo and Remo come from Etruria actually Tuscania and North Latio in Tarquinia spot (boundary city) en etrusco, Tarchnal o Tarch.
All Presences of mythological issues “grecoetruscos”, like were Romulo and Remo also for example “the deer of Télefo”, and “the Wolf of Bolonia”- central Italy- and so."


There isn't any connection between Askenazims and Tuscans, and few lineage will not change anything. Askenazims have been told to be between 35/55% europeans too.
As we can see in the chart above Askenazim are well distinct by Tuscans anyway. In case there is something of Adygei in Tuscans and some in Askenazims that's possibly the connection.

As for the etruscans they were developed but their culture was similar to Greece and developed later its own style just because they melted with locals who descended from Villanovians, infact etruscans built their cities over preexisting villanovians settlements.
Moreover the etruscan language is basically disappeared from Tuscany and if etruscans had been many (to the point to change tuscan dna) they would have superimposed their language.



As for the study you posted, well maybe those cattles really come from middle east, but what did genetic become?
Have you ever heard any other population of the world beyond tuscans which cattles have been studied to find out what their ancestors were?
Just because genetists don't find any other strong connection between Tuscans and Anatolia or the Levant then they came out with the theory of the cattles...
It seems to me that every genetist only want to be the first to discover where etruscans came from, even if the proofs have no sense, just like the few haplos they focused about to fantastically claim "Etruscans were Turks" and which haplos could come from almost tens other places in the world Wales comprised. It takes a kid from elementary school to debunk too the theory of Turks=Etruscans since turks were not even there at that time

Jack said...

Actually, assuming Etruscans were from the Egean area, perhaps it is better to consider the fact that initially they were more concentratrated in South tuscany (and North Latium). Then they "etruscanized" north Tuscany and other areas.
In any case I just wanted to say that Tuscans, especially in the south are probably not ideal for an Italian proxy, not that they are non European aliens from east of the Adriatic sea.

Dienekes said...

Any further comments on "Etruscans" and other off-topic subjects will be deleted.

Grognard said...

"Consider for example a 23AndMe relative, who is 1/4 Irish, 1/4 Jewish and 1/2 Chinese, however on plots she shows up as Kalash/Hazara?! So if I didn't know anything about her, I would assume she is from Central Asia, and would be very wrong. In a similar fashion, AJ's are known to be a have a mix of Middle Eastern or Anatolian/European or European-like population. But then so are Tuscans?! So they would be similar for those reasons, irrespective of historic admixture with Tuscans, right? "

It's not saying she's from there, but genetically she probably is very similar to central asians as they'd pull genes from those directions in those rough proportions. West european, ME and east asian proportioans are what makes the difference in nearly everyone, it's not like there is some special gene right in her home town or something. but yes you have to remember these population studies are just averages, and don't mean much. And in this case it's easy to tell what went wrong.

I get annoyed that ashkenazi jew has been redefined to include almost all jews in europe when it's not really the case.

And this "etruscan" mixture confirms this, too. Italian, etruscan and french? What does this REALLY mean? Well, I don't have to ask I already know and this seems to confirm it.

The ashkenazi jews mixed in with rheinlanders aka bourgogne peoples. The bourgogne moved through etruscan area and piedmont savoy and their descendants became the kings of italy. This is the component they are being shown to be similar to.

Those specific jews did come from khazar and you find the r1a something something with a Q in it in this population and in the remains sampled of actual khazarians, and not in the europeans surrounding them.

These are the guys with big heads and huge IQs. Tend to have reddish hair and be taller than average. Don't really look like "jews" at all.

The rest of european jews now called ashkenazi have an average IQ of 104 and pull their genes from around the world.

Grognard said...

Also you shouldn't be looking for khazarian ancestry using current caucasian tribes. Not should you look for it using middle easterners.