Gypsy DNA

[lgmayka]

On a mailing list with experts, I received two interesting replies about this:

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It is my understanding that FTDNA screen all the results for 10873 & 10400 and then call anything 'positive' for both as M*.

And as you say Native American samples are very likely to be Haplogroup C; whilst more Asian samples are going to largely be C, D, or G; regardless of their actual HVR1 results

There are nowadays many 'M' haplogroups - at least 30, but they really are only Southern Asian and Pacific, and are all very small haplogroups. I do not know of any actual 'M' haplogroup samples from the Americas.

Samples that are 'negative' for 10873 could be A, B, or X - which all appear in low numbers in the Americas.
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The closest match for me is an Apache woman and my mother is from western China! If you have any other information on M*, I'd appreciate it, there's so little talk about it.
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[Marttinen]

She used language that a layman would be able to understand. No specific mutation number was given.

However, when I did the mitosearch, I found that an "exact match" assigned M1 didn't have the 16223 and the of the other ones didn't have 223 listed either. My wife didn't have 223 in her sequence of numbers and letters. The ones without 223 had 182C which my wife and her M1 exact match were missing.

The person that answered from the FTdna did say that there was no chance that my wife is a U1a, so they must have done something other than look at numbers.

I made a further quiry (the question behind the question) about M* in Europe being an indicator of Romani DNA. Let's see how that goes.

[lgmayka]

I should have quoted the email that I sent to this expert mailing list:

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As you know, FTDNA explicitly tests for mtDNA haplogroup--it does *not* merely predict the haplogroup based on HVR1 mutations. You probably also know that genuine M* appears to be found almost exclusively in South and East Asia.

A member of the FTDNA forum asked about his wife's unusual M* mtDNA haplogroup, leading me to look at the M* entries in MitoSearch. I suspect that either some of them are misclassified C or D, or else the genetic community may have to add M* to the current list of Native American mtDNA haplogroups (A, B, C, D, and X). Here are some M* entries in MitoSearch:

VNJQK of Mexico is one HVR1 mutation away from 21 entries of haplogroup C, all of them from the Americas and most of them Latin American.

ZV8RA, from Arkansas and believed to be Native American, is one HVR1 mutation away from two entries of haplogroup D (one Japanese and one Colonial American), as well as purported M* entries from Japan, China, and the Phillipines.

AZ2V4 of Mexico has an exact HVR1 match with a C from Mexico.

TUU8R of Mexico is one HVR1 mutation away from a C from Chile.

XCTZP of Chile is one HVR1 mutation away from a C.

CFM66 is Apache (perhaps from a reservation), from a matrilineal line extending prior to Arizona statehood.
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[Marttinen]

The answer I got about a match in Brazil was:

The individual who listed Brazil is not of Native American descent on this line. Most likely, they are of western European descent. Brazil was colonized by the Portuguese and had a close relationship with France. Also, there were Italian and German immigrations to Brazil so these are all possibilities.

So, in general the matches are coming from the area of Spain and Portugal, and Italy. Based on this comparison this looks like the most probable region for your wife's origin as well.

The above was directly from the e-mail I got from the FTdna today. I don't know how much of someone's e-mail I'm allowed to quote on a forum. I just wanted to show it here because it deals with the Native American issue, which I never brought up with FTdna in my question.

[cacio]

Martinnen:

Very interesting information. The email was probably simplified because that's the way most people want it. But you know a fair number of things now about M, so if you are interestied, you can as well reply asking for more specific information.

Eg. you could ask which marker exactly they tested to assign her to M. Given lmayka's info, you can ask them specifically whether they tested 10873 & 10400, and which M1 marker your wife did not possess. This will give you useful information. For instance, given vraatyah's email, it is possible that there are M1 without 16223. So if that's the marker she was talking about, your wife may well be M1.

I believe the gypsy M* would be the Indian clades of M described in the previous papers suggested by Kaiser. But, according to the email you cite, your wife seems to belong to this European/Mediterranean group.

cacio

[Marttinen]

The answer to the Roma question came in today. They say it is unlikely, seeing the matches (the few of them) that my wife has. To be Roma, they expected more eastern European or Indian matches. You're probably right about the European/Mediterranian group. I'll research some of the documents more deeply so I can have an intelligent understanding of the background before posing more questions.

The FTdna basically pointed towards more answers coming up in the future when their researchers learn more and when more matches for my wife come in. The drift I get is that there's just not enough information that either side (my wife and the organization) at this time to define her situation more tightly.

[lgmayka]

Just FYI, M* (actually M5, but labs don't always test for that) is found among Polish Roma:

http://www.blackwell-synergy.com/doi/abs/10.1111/j.1529-8817.2005.00222.x?journalCode=ahg

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The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondrial haplogroups (H, U3, K, J1, X, I, W, and M*). The results of complete mtDNA sequencing clearly indicate that the Romani M*-lineage belongs to the Indian-specific haplogroup M5...
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[Marttinen]

It's interesting that it lists M* as a common Eurasian haplogroup. I did some checking on numbers from some of the studies Kaiser listed and it seems that although my wife isn't an M5, she could be a mishmash of other M's (with M1 seeming dominant, although she doesn't have the 223). In mitosearch she matched numbers exactly (low resolution search) with and M1 who also didn't have 223.

We have record of M5's coming into Europe from Asia (if it's true that 98% of Roma are M5) but the question is who did the M's other than possibly M1 get to southwestern Europe and be embeded as a mainstream "Eurasian" haplotype?

[cacio]

Marttinen:

I came across this blog:

http://dienekes.blogspot.com/2005/08/eshg-abstracts.html

The second article cited (Phylogeographic analysis of mtDNA and Y chromosome lineages in Caucasus populations) talks about hap M1:

Phylogeographically, a particularly intriguing finding is the presence, though at low frequencies, of a predominantly northeastern African haplogroup M1 in many North Caucasus populations.

So it seems there is M1 around there, which may explain its presence in Europe. I don't know if the above is just a conference presentation or there's a paper. Anyway, this may be helpful in understanding your wife's results.

cacio

[Kaiser]

Gypsy or Native American DNA?

Could the confusion surrounding mtDNA M* be a nomenclature issue? 'M' is considered as a "cluster" or a "macrohaplogroup", if you will. Besides the mainly South Asian M1-M5 sub-clusters (alongwith several other: M6 through M30, non-serial), it also has East Asian/Native American sub-clusters M-C, M-D, M-E & M-G, more simply notated as C, D, E & G.

I believe the 'mistake' alluded to by Igmayka in his post of 6/29/06 may have a different interpretation, if I have understood his observation correctly [(A member of the FTDNA forum asked about his wife's unusual M* mtDNA haplogroup, leading me to look at the M* entries in MitoSearch. I suspect that either some of them are misclassified C or D, or else the genetic community may have to add M* to the current list of Native American mtDNA haplogroups (A, B, C, D, and X)].

That bring's us back to Martinnen's M* dilemma. Does he need to put M1-M30 on hold and follow the C, D, E & G trail, just to check Native American links in his wife's matriline?

[lgmayka]

Does he need to put M1-M30 on hold and follow the C, D, E & G trail, just to check Native American links in his wife's matriline?

If it is possible that FTDNA made a mistake in testing or in haplogroup computation/prediction, yes. Otherwise, no. When FTDNA says M*, it indicates that it did not find evidence of derivative haplogroups.

But it is theoretically possible that a portion of mtDNA C back-mutated to make itself look enough like M to fool FTDNA.

[Marttinen]

I have back-mutated from vacation and am on this forum again.

The back-mutation of a major identifying number possibility is what I heard from ftDNA about. It would cost lots of money to go searching for it. Things are kind of complicated with my wife's being adopted and no paper trail.

Cacio:

Thanks for the link. I'll explore it further and see what the possibilities are.

[cacio]

Marttinen:

I was looking at a paper for other purposes and came across a discussion of haplogroup M in the Mediterranean, which may be of interest regarding your wife's mtdna results:
Joining the Pillars of Hercules: mtDNA Sequences Show Multidirectional Gene Flow in the Western Mediterranean

http://www.blackwell-synergy.com/doi/abs/10.1046/j.1469-1809.2003.00039.x

Citing the paper:
"The M sequences found in the analysed populations can be sorted into two different phylogenetic groups: haplogroups M1 and M5. It has been suggested that haplogroup M1 originated in eastern Africa (Quintanta-Murci et al. 1999), and it is almost absent in the European samples analysed. Nevertheless, it has been found at high frequencies in Algerians, and at a lower frequency in Tunisians, Mozabites and Moroccan Arabs, showing a slight east-west cline. On the contrary, haplogroup M5, defined by 16129A (Bamshad et al. 2001), which accounts for 97.3% of the M lineages in Gypsies (also known as Roma; Gresham et al. 2001), has only been found in Andalusians and Central Spaniards, which is not surprising given that Spain is one of the European countries where the Gypsy community is more numerous (~500,000 people; Liegeois, 1994)."

So, anyway, from the previous discussions, your wife seems to fall into the M1 group rather than the M5, which suggests a Southern Italian/Iberian connection, at least in the past.

cacio

[Andrew M]

Great info.

Thanks, cacio, for the follow-up and information. It gives me a clearer understanding about the M*'s and M1's relation to Europe. I put my wife's results on the YHRD search recently and got match results from Spain and Brazil. This also confirms what the Leah Wark mentioned, in that she would expect to see more Eastern European matches if my wife's DNA was Roma.

I especially appreciated the charts on the scientific report. When I saw you had written M5 is identified by 16129A I was on alert, because my wife has that number in her sequence. The report showed that 16129 was in line with M1 also--and most of her other numbers were closer to M1 than any of the other M's. Thanks again for the info.

[cacio]

Andrew:
in the (old) motifs proposed by Richards et al

http://www.stats.gla.ac.uk/~vincent/founder2000/motif.html

M1 should have a motif similar to: 16129 16189 16223 16249 16311

Another paper that talks about M1 is:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15457403

(do a search for M1, there is a tree at some point). The paper focuses on Ethiopia though, so there's little about the European variety.

So you and your wife seem to match! Though E3b's seem to have been far more successful in Europe.

cacio