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Wednesday, October 31, 2012

First official attempt to divide R1a1 into multiple subclades since the discovery of R-M458

Unfortunately, this paper has already become outdated since being submitted for peer review at the AJPA, largely thanks to work by R1a hobbyists (see here). For instance, the authors claim that the overlap zone between R-Z280 and R-Z93 is Inner and Central Asia. In fact, these two subclades overlap in Europe, which is where most of the basal R-Z93 lineages have been located to date. Hopefully a major paper on R1a is on the way that will clear this up at "scientific" level, because it's a strong hint that R-Z93 might have expanded deep into Asia from Europe.

Since the discovery of R1a1-M458, this is the first scientific attempt to divide haplogroup R1a1-M198 into multiple SNP-based sub-haplogroups. We have genotyped 217 R1a1-M198 samples from seven different population groups at M458, as well as the Z280 and Z93 SNPs recently identified from the “1000 Genomes Project”.

The two additional binary markers present an effective tool because now more than 98% of the samples analyzed assign to one of the three sub-haplogroups. R1a1-M458 and R1a1-Z280 were typical for the Hungarian population groups, whereas R1a1-Z93 was typical for Malaysian Indians and the Hungarian Roma. Inner and Central Asia is an overlap zone for the R1a1-Z280 and R1a1-Z93 lineages. This pattern implies that an early differentiation zone of R1a1-M198 conceivably occurred somewhere within the Eurasian Steppes or the Middle East and Caucasus region as they lie between South Asia and Eastern Europe. The detection of the Z93 paternal genetic imprint in the Hungarian Roma gene pool is consistent with South Asian ancestry and amends the view that H1a-M82 is their only discernible paternal lineage of Indian heritage.


Previous publications have pointed out that regions of highest haplogroup frequencies do not always indicate the territory of origin (Cinnioglu et al., 2004) and high STR diversity may not be exclusively an indicator of in-situ diversification but could also be the consequence of repeated gene flow from different sources (Zerjal et al., 2002; Sharma et al., 2009).

Pamjav, H., Fehér, T., Németh, E. and Pádár, Z. (2012), Brief communication: New Y-chromosome binary markers improve phylogenetic resolution within haplogroup R1a1. Am. J. Phys. Anthropol.. doi: 10.1002/ajpa.22167


Maju said...

From the data published in this paper there is no overlap zone in Europe: a few Hungarians have very peripheral lineages, which are easy to imagine of Central Asian origin or more central ones, which look of Roma origin.

On the other hand the other two haplogroups (together part of a larger clade "brother" of the "Indian" one) also "overlap" with Central Asia (Uzbeks and Mongolians) and we don't have any data for Pakistan and North India (Tamils are not more related to Pakistanis than Uzbeks are in fact).

I understand that you want to pull the ember to your sardine but, after the emotional outburst, what is left in the hard data? Nothing clear, certainly not what you say.

The key is actually not in these lineages but in what is left outside upstream in the R1a tree. From memory almost all individuals in the top level "asterisk" paragroups used to be Pakistanis and the like, but you tell me, because I'm pretty sure that you are better informed with updated figures on that matter.

Davidski said...

^ Like I already said in my blog entry, this paper is already outdated.

The overlap zone between R-Z280 and R-Z93 is certainly Europe. Most of the R-Z93 east of Europe is L342+, which is just under R-Z93, so it's downstream to what's normally found in Europe.

The fact that some Hungarians have recent Roma admixture, and thus carry the typically South Asian, and very young, R-Z93-L342+ doesn't change anything.

Kendjelic said...

Do we have any idea as the the area of origination for Z280 or in my case P278?

Davidski said...

Both Z280 and P278 come from what is now Poland, or very close to there, like Slovakia.

Dr Rob said...

where abouts in Europe do you propose that the Z 93 boundary is ? The Balkans ?

Davidski said...

There doesn't appear to be a boundary between the European subclades and Z93. They overlap completely.

Most of the old Z93 (ie. L342-) lineages found to date are located in Western Europe, but also in Eastern and Southern Europe.

It appears as if Z93 either originated in Europe, or entered the continent from Anatolia during the Neolithic. It moved into Central Asia later, possibly via the Ukrainian steppes, and then south into Pakistan and India as Z93-L342+.

Dr Rob said...

OK; I see. So the data on the R1a project page is outdated , because it doesn;t depict western Europe as bearing any Z 93

Davidski said...

I'm not sure what results you had a look at, but the R1a1a and Subclades project shows Z93 (L342-) in the UK, France, Poland, Russia and Italy. Also, from memory, the 1000 Genomes samples from Tuscany and Spain show Z93 (L342-).,R1a/default.aspx?section=results

Kendjelic said...

I appreciate the response. Would you happen to have any documentation containing specifics that point to this conclusion? I am not questioning you at all but would like to add this info to my personal records as well as pass it on to family. Thanks in advance.

Nirjhar007 said...

There is no need for R1a1 to originate in south asia as our business deals with the R1a-Z93 now which as you know is more globally present compared to Z280,Z283etc.
you mentioned in a blog''So it looks like there was an invasion of South Asia by R1a males from the north during or after the Bronze Age, followed by some massive expansions of their descendants.''
your reasoning was sound and of course usual:) but practically from the archaeological data of south asia it is confirmed that the subcontinent enjoyed almost a 4000 years of archaeological continuity(4500-600b.c.) and since archaeology have detected neolithic intrusions of 6000b.c.,4500b.c. and of middle iron age 600b.c. and all the other historically known intrusions after! so if Z-93 is coming from outside then it is bound to happen on or before 4500b.c. as you have said the massive expansion theory of Z93 carrying ''male kurgans'' for the high STR varience in south asia then unless they were using vimaanas(ancient flying machines depicted in scriptures) of course;)they must be creating some sort of marks on the soil with their 'rapid ventures' to south asia.
And yes one last thing don't forget R1a's brother R2a too which peaks around with 80% presence in certain south asian populations and in iranian kurds around 20% and in some central asian poulations too.
stay well

Davidski said...

^ Z93 isn't native to South Asia because all the South Asian Z93 is Z94+, and most of it is also L657+.

But Z93 didn't split from the European Z283 that long ago, certainly not before the Bronze Age, and there's no L657 in Europe. However, there is Z93 (Z94-) all over Europe at low frequencies.

So I think Z93 came from Europe, or from close to Europe, and spread around South Asia as Z94+ and L657+.

If there's no archeology supporting these expansions, then obviously someone didn't look hard enough yet.

Nirjhar007 said...

Davidski, As you know or have to consider the low frequency of Z93 in europe is not enough for it to be the supplier of south asia's high STR varianced Z94+ with europeans and other worldwide populations clearly lacking the Z94+ and other Indian similar clades unless Z93 experienced some sort of population bottleneck which will be highly speculative.
The most simple explaination of Z280,Z283 being absent in S asia is that they separeted before Z93 developed and with Z93 staying at a moderate amount from birth and their successing clades spread to south asia at a very distant(my bet is 4500b.c.) past.
Z93 is also present in Non-indo-european populations from West Asia which can indicate Z93 to be older to I-E Languages itself!.
About the archaeological record for invasion there are only puted ones which can be easily discarded with proper analysis as you have seen here-
stay well.

Davidski said...

It's only necessary for one Z93 lineage to make it from Eastern Europe to Central Asia, give rise to Z94 and also L657, and then push into India.

The cause for the presently high STR variance of Z94/L657 lineages in Pakistan and India is mainly rapid and immense population growth, coupled with several waves of Z94 and L657 moving down into the region from South Central Asia.

Nirjhar007 said...

''It's only necessary for one Z93 lineage to make it from Eastern Europe to Central Asia, give rise to Z94 and also L657, and then push into India.''
for logical sake that is sure a possibility but it don't have any evidence for support, but there is an another thing which is age, what is the mutational rate dates of the Z94/L657 in the south asian populations?
''The cause for the presently high STR variance of Z94/L657 lineages in Pakistan and India is mainly rapid and immense population growth, coupled with several waves of Z94 and L657 moving down into the region from South Central Asia.''
yes i agree with you on this as its the only possible explanation we can see by staying in a practical sense.
All i am waiting now is for the salvation of the 4500 year old aDNA Of Farmana!.
Good times.

Frank Sandor said...

I would agree that archaeologists are not looking hard enough for evidence supporting these expansions. Archaeology is like every other science, if you don't look for results you are not likely to find them. People keep forgetting that much of our understanding of archaeology is based on preconceived ideas and guesses based on those ideas. As those ideas change so do the results.

I have recently published a book showing that the Uralic speakers originated as a culture in Pakistan near the Hindu Kush (this would be the extreme southern range for Z280 as it is known today). The Uralic speakers migrated into the region and adopted Sanskrit in the form of 'slang' based on observational qualities instead of direct word adoption. Most of the Uralic speakers then migrated north to Siberia before migrating west with Hungarians migrating to Europe much later. While chapter 1 in my book was based on just R1a1a and not Z280 or Z93, the books results are still consistent with recent DNA findings.

My point here is not to plug my book but to bring into this discussion the fact that there is a known group of Europeans who migrated onto at least the doorstep of India carrying R1a1a. While in my book I state that I had sided with the idea that R1a1a originated in South Asia I also repeat several times that due to how the Uralic speakers adopted Sanskrit the only possible conclusion is that they migrated into the area and are not the descendants of Sanskrit speakers. They may or may not have been the ones to spread Z93 into India but they definitely were in the correct location to do it.

My results are published in the book Magyar Origins: A 21st Century Look at the Origins of Ancient Hungarians but some information is available at

Parthian said...

I have a question, A group of Pan-Turk People are Pushing the Agenda that R1a1 L342 is a Turkic marker and that All R1a1 in India,Iran and Pakistan belong to L657. From this they make the conclusion that the Aryans were fathered By Turkic Nomads and That Andronovo culture was Turkic plus that Scythians and Sarmatians were Turkic. Could this be true???

Davidski said...

No, it's not true.

R1a-Z94 was incorporated into the gene pools of Turkic groups as they expanded across Indo-European territory which had very high frequencies of this marker

Also, most R1a-Z94 in India isn't of Turkic origin because it has diversity that isn't found in Turkic R1a-Z94, which often shows STR patterns that indicate very recent founder effects.

Indeed, R1a-L657 is South Asian-specific, and when it's occasionally found in Turkic populations it indicates South Asian admixture in them, most likely via Indian traders, mercenaries and/or captives.

Parthian said...

Thank you for your response!:)

1564e58e-bb4f-11e2-87b2-000bcdca4d7a said...

Just one question, what explains the spread of R-Z93 into the Region of Campania in Italy?

blogmaster said...

Z93 spread from Iran

Davidski said...

Z93 spread with Sintashta and Andronovo groups from the Trans-Urals in Eastern Europe.

We have Sintashta and Andronovo genomes. They belong to Z93 and show no links to Iran in any way.