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Geolocke
03-12-2014, 11:10 PM
Hi Locke, I am seeing that your mtDNA comes from Italy, and even more from Lucca:
47778 Locke Mariana Alfieri, 1820 - 1855, Lucca Italy X
A16129G, T16187C, G16230A, C16311T
C146T, C152T, T204C, G207A, A247G, G263A, T480C, 522.1A, 522.2C, 309.1C, 315.1C
You should know that this region, around the Monti Pisani, which is also mine, is very interesting not only for the Y but also for the mtDNA. It comes from there my K1a1b1e, the R0a2 (new subclade) of an American adopted, the other R0a2 of my acquired cousin Fabrizio Federighi (whose are waiting for his Geno 2.0). Even though it isn't easy to understand this new Behar's reassessment, you couldn't be hg. X, but also something close to this HV from Arabia:
184336 HV A16129G, T16187C, C16189T, T16223C, G16230A, T16278C, A16293G, C16311T G73A, C146T, C195T, A247G, T480C, 522.1A, 522.2C, 309.1C, 315.1C
and the mutation T480C is very very rare. For this I think that it could be interesting also an FMS or, from Geno 2.0 or other, to have something similar without a lot expense.

Rathna, Thank you again for looking at my mtDNA Results. I think you have helped nudge me toward completing my FMS. Could you please tell me a where I might learn more about Behar's reassessment. As I said before, I am just trying to learn what I can about the this so I can properly understand my results. I'd also like to learn more about T480C

Rathna
03-13-2014, 03:09 AM
Rathna, Thank you again for looking at my mtDNA Results. I think you have helped nudge me toward completing my FMS. Could you please tell me a where I might learn more about Behar's reassessment. As I said before, I am just trying to learn what I can about the this so I can properly understand my results. I'd also like to learn more about T480C

Geolocke, you can read the paper of Behar et alii ( https://www.cell.com/AJHG/abstract/S0002-9297(12)00146-2‎ ) which was for free already when published with all its supplements. Behar and colleagues did a great (a very great) work. Before them we had (and have) the Cambridge Reference Sequence (CRS) and the revised one (rCRS). It was (and is) like the Greenwich meridian 0: chosen an mtDNA by chance (now revealed H2a2a), all the others were compared with it. Of course H2a2a isn't the most ancient mt but a very recent subclade of the most diffused haplogroup of Europeans, and the closest haplogroups have a few mutations as to it, whereas the furthest to it have many, beginning from the African ones, from L0 to L1-6. Behar and colleagues have constructed the RSRS, just taking like the "Greenwich meridian" the most ancient haplogroup, so now the mutations of each haplogroup are pretty the same as to their number. The work is good and correct, only that we were familiar with the previous method, that we have memorized, and it is difficult (at least for me) to memorize the new, even though correct.

As to your haplogroup and why FTDNA classified it like hg. X, I can say that you have in HVRI and HVRII some mutations of hg. X, but others different, and probably some calculator opted for X, but also here I think that experience is worth more, and not every mutation has the same weight: a very rare one like T480C is more important and the link with the Arabian haplotype merits to be deepen, also thinking to what I have written in another thread about hg. R0a2 etc. and the link between Italy and Arabia.
Also about the ancient origin of these haplogroups from the "Monti Pisani" I have never excluded an origin from Middle East, also because there were at the Roman time many villae plenty of slaves who could have come from everywhere, but if so we should find very close haplotypes elsewhere: if we find linked haplotypes but with many mutations, we have to say that the link was ancient and, if the Italian haplotype is closer to the origin (like in R0a2k as to R0a2k1), we have to think that (probably) the origin is here and that that mt descends from people who lives here from "many thousands of years".

Rathna
03-13-2014, 11:54 AM
Of course with these mutations as to rCRS

73G 195C 204C 207A 309.1C 315.1C 480C
16189C 16223T 16278T 16519C

you could be also an hg. X, but X*, not found so far elsewhere. Of course only the Coding Region could say something definitive.

Rathna
03-13-2014, 04:40 PM
I am seeing that in the mtDNA X project of FTDNA your haplotype is put amongst the X2d1:

47778 Mariana Alfieri, 1820 - 1855, Lucca Italy X
A16129G, T16187C, G16230A, C16311T
C146T, C152T, T204C, G207A, A247G, G263A, T480C, 522.1A, 522.2C, 309.1C, 315.1C

but I don't understand why if you haven't done an FMS.

This an FMS of this subclade:
JQ702739 Behar Haplogroup [X2d1] 07-APR-2012
A73G T195C T204C G207A A263G 315.1C C522- A523- G709A A750G A1438G G1719A A2706G A4769G A5186G T6221C C6371T A6791G C7028T T8400C T8503C A8860G G11719A T11878C C12705T G13708A A13966G T14470C C14766T A15326G A16183- T16189C 16193.1C C16223T C16278T T16519C

but you have clearly, amongst others, G263A.
This sample from Behar 2012b is from Italy and should be the closest one.

Rathna
03-13-2014, 08:12 PM
This is an X2d1a from the 105 Tuscans amongst the 1KGP:
A73G T195C T204C G207A A263G T310N A750G A1438G G1719A A2706G A4769G A5186G A5558G T6221C C6371T T6626C A6791G C7028T T8503C A8860G T10084C T11465C G11719A T11878C C12705T G13708A A13966G T14178C T14470C C14766T A15326G A16183C T16189C C16223T C16278T T16519C
To compare with this X2d1a from Hungary:
GQ231312(Hungary) FTDNA Haplogroup [X2d] 22-JUN-2009
A73G T146C T195C T204C G207A A263G 309.1C 315.1C A750G 960.1C A1438G G1719A A2706G A4769G A5186G T6221C C6371T T6626C A6791G C7028T T8503C A8860G T10084C T11465C G11719A T11878C C12705T G13708A A13966G T14470C C14766T A15326G T16189C C16223T C16278T T16519C

If we compare it to the other Italian above and to a (possible) Geolocke’s X2d1, it is certain that this haplogroup is in Tuscany (and Italy) from many thousands of years.

Humanist
03-13-2014, 08:50 PM
If we compare it to the other Italian above and to a (possible) Geolocke’s X2d1, it is certain that this haplogroup is in Tuscany (and Italy) from many thousands of years.

Speaking of "certainty," and "many thousands of years," in the absence of ancient DNA results is a bit much, do you not think?

Rathna
03-13-2014, 10:48 PM
Speaking of "certainty," and "many thousands of years," in the absence of ancient DNA results is a bit much, do you not think?

Humanist, of course we all are waiting for the aDNA like we all are waiting for the Big Y and the Full y to get some "certainty", but we work (like any other) with other indices:
1) Tuscany has X2d1 and X2d1a. Hungary so far only X2d1a (so far, for what I know): thus probably the expansion of this subclade was from Tuscany to Central Europe and not the other way around.
2) Geolocke's X2d1 (if it will be confirmed that his mt is X2d1) from Tuscany has a very rare mutation in 408A, a back mutation in 263 from G to A (very rare, known only in X2n), thus we may presuppose that Tuscany gets the most ancient samples and perhaps the origin of this subclade.
3) I haven't studied deeply this haplogroup, but in Ian Logan I have seen that Tuscany and Italy have many diffused subclades everywhere in this haplogroup, etc. etc.
4) This lets me desire an FMS of Geolocke's mt, etc. etc.

Geolocke
03-13-2014, 11:05 PM
Geolocke, you can read the paper of Behar et alii ( https://www.cell.com/AJHG/abstract/S0002-9297(12)00146-2‎ ) ...

Thanks for the link. I was able to follow along fairly well even though I am just a layman.



... As to your haplogroup and why FTDNA classified it like hg. X, I can say that you have in HVRI and HVRII some mutations of hg. X, but others different, and probably some calculator opted for X ...

FT-DNA has this statement included on the MtDNA hg-X project page description:
"Since Haplogroup X is a special designation, any pedigree information we can share with each other will help us all with our pedigree development." I do not know their meaning of this term "special designation" But perhaps that is why I am listed as X until I upgrade to FMS (?)


... if the Italian haplotype is closer to the origin (like in R0a2k as to R0a2k1), we have to think that (probably) the origin is here and that that mt descends from people who lives here from "many thousands of years".

Are you perhaps suggesting the Etruscans? I looked at a paper on this subject and got the feeling that this is not the case, but there again, this is not my field of expertise. Ref:Origins and Evolution of the Etruscans’ mtDNA
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0055519


... I am seeing that in the mtDNA X project of FTDNA your haplotype is put amongst the X2d1: ...

I do not know why this would be, unless I matched HVR1 & HVR2 with someone who has tested FMS, but according to FT-DNA I have no matches at HVR1 & HVR2, only at HVR1. As a side thought I have sent a message to some of my Cousins through my Grandmother's sister to see if they have taken the MtDNA test, but no replies yet. All in all, this discussion has led me to one conclusion: I need to upgrade to FMS.

Between my Y-DNA hg Z2103+ (Z2110?) being a "special case" and my MtDNA hg X being a "special designation", I have conflicting choices for funding upgrades for my test kit, but I think that have talked though this enough on both this board and on the Y boards, and my choice is clearer to me now. I will go ahead and upgrade to FMS now and start a savings fund for BIG-Y, hoping for another sale soon. Thanks for letting me sort through my competing research choices. I think my approach is clear to me now and hopefully my results will be of value to those of you who use them for your research. -geo

Rathna
03-14-2014, 06:12 AM
This is just the case: you have been put amongst the X2d1 because you match other people tested for an FMS: you have the mutations 204C and 207A, which for the last Phylotree define this haplogroup. Of course we don't know if you have the other two mutations in the Coding Region (A5186G T11878C ) before you are tested for the FMS. But you could be also X2d1a, if you have the other three mutations which define this subclade (T6626C T10084C T11465C ), even though I think it is unlikable, just for having you the other two very rare mutations I quoted above: 408C and a back mutation in 263.
I think you have learned the lesson very soon. All what you say is smart and correct. Your Y has a very close link with the other two of your cluster, a further link with Ware (it is imminent his BigY) and Seymour, and more with Romitti and also further with me. Your Y will be able to be understood by these tests, whereas your mt is unique and more interesting, for this I think it is better to do this test before.
About Etruscans I have written hundreds of letters about the fact that they didn't come from Asia Minor as Herodotus said, and now everyone knows this.

Rathna
03-14-2014, 11:20 AM
Of course it isn't said that Italy hasn't X2d*. For instance I'd like to test with an FMS this sample:

UWBME X2 150T,183C,189C,203G,278T,519C 073G,195C,263G,309.1C,309.2C,315.1C,522-,523-

Geolocke
03-14-2014, 05:00 PM
This is just the case: you have been put amongst the X2d1 because you match other people tested for an FMS: you have the mutations 204C and 207A, which for the last Phylotree define this haplogroup. Of course we don't know if you have the other two mutations in the Coding Region (A5186G T11878C ) before you are tested for the FMS. But you could be also X2d1a, if you have the other three mutations which define this subclade (T6626C T10084C T11465C ), even though I think it is unlikable, just for having you the other two very rare mutations I quoted above: 408C and a back mutation in 263.

I ordered my FMS upgrade last night, so we will have to wait about 5 or 6 weeks before we can look any closer, judging by the other return times I have seen in the Locke DNA project for MtDNA upgrades.

I have a question about 408C and 263 that you mention above. I'm not certain I know how to properly phrase the question, so please forgive me if it sounds foolish. When you say "very rare mutations" are you talking about:
A ) Previously recognized or known mutations that regularly happen in a very small number of cases in the established genomic dataset, or
B ) Genomic "Noise", by which I mean valid returns that occur randomly without any discernible pattern or regularity outside of the direct maternal line?
(I told you it might sound silly.) I am understanding your statement to mean A) but I wanted to make sure I am understanding correctly (if at all!).


About Etruscans I have written hundreds of letters about the fact that they didn't come from Asia Minor as Herodotus said, and now everyone knows this.

I was sorry to see that the study I read (linked above) did not find Etruscan DNA predominantly in Lucca residents. :-( I feel I should state that some of my cousin researchers have suggested Florence or even Venice as the City of origin for Mariana Alfieri, but I am holding to Lucca, since I have records of her Marrying there and Dying there. Also, the family name "Alfieri" (and its variations) appear to be centered in Tuscany, So I am sticking with Lucca as her City of Origin until I find evidence that proves otherwise.

-geo

Rathna
03-14-2014, 05:45 PM
There is a way to know how a mutation is frequent:
If you go on Phylotree (www.phylotree.org‎), click on mtDNA tree Build 16 (19 Feb 2014),
at the bottom you find mtDNACommunity, click, at the bottom left you find Human mtDNA Phylogeny, click, Search the tree, mutation: you should write a mutation with the ancestral and the derived value, for instance T480C (I was wrong in writing by memory 408), and you find on the right every haplogroup where that mutation is important. For T480C we have only HV14 and R30b1. Then it is very very rare.
A263G, after happened from G263A, only in X2n came back to A, for what I know. Then it is very very very rare.
Of course my answer is A.
Surname Alfieri is diffused overall in Italy, not particularly in Tuscany, but you should know the origin of the mother of the mother of the mother etc., because your mt came from a mother who didn't send ever her surname.

Geolocke
03-14-2014, 06:12 PM
Thanks once again. I did not know the frequency of the Alfieri Surname. I will do more digging on Mariana's Family. It is just one of my roadblocks. And thank you for the search tool. I will look into that. -geo

Rathna
03-15-2014, 06:01 AM
Of course your test will be able to shed some light also on the origin of hg. X. Why?
Because the theory of my opponents is that Italy had migrations from elsewhere and to find many hgs in Italy is due only to these migrations: think to the Roman Empire and the millions of slaves. But...
as to hg. X, we know that Italy has the presence above all of the subclades
X2d X2k X2m X2n
All these subclades have in HVRI and II these mutations
A73G T195C 315.1C
T16189C C16223T C16278T T16519C
but mutation in T204C and G207A are only in X2d and others in other subclades, but your very rare G263A (a back mutation) is only in X2n and in you.
This could be due to an heteroplasmy of ancestor haplotypes which had different outcomes.
Of course this should be evident in the Coding Region, what your test could give.
In this case we could think that the ancestor of at least these subclades was in Italy.

Rathna
03-15-2014, 09:04 AM
This is the richness of hg X in Italy only from Mitosearch:
User ID HVR1 Mutations
HVR2 Mutations

6PK7F [X2m] 189C, 217C, 223T, 278T, 519C
073G, 143A, 195C, 225A, 226C, 263G, 309.1C, 315.1C

8xj4a [ X*?] 093C, 124C, 183C, 189C, 223T, 278T, 519C
No Mutations

9S9D5 [X2m]189C, 217C, 223T, 278T, 519C
073G, 143A, 195C, 225A, 226C, 263G, 309.1C, 315.1C

BD6XV [Possibly intermediate between X* and X4] 189C, 223T, 274A, 278T, 519C
Not Tested

BMGQJ [X2f] 189C, 223T, 278T, 519C
073G, 153G, 195C, 257G, 263G, 315.1C, 523.1C, 523.2A

TCX34 [X2e2b] 093C, 189C, 223T, 265G, 278T, 519C
073G, 153G, 195C, 263G, 309.1C, 315.1C

tvmd2 [X2m]189C, 217C, 223T, 248T, 278T, 519C
073G, 143A, 195C, 225A, 226C, 263G, 309.1C, 315.1C

UWBME [X2*?]150T, 183C, 189C, 203G, [16223C], 278T, 519C
073G, 195C, 263G, 309.1C, 309.2C, 315.1C, 522-, 523-

Geolocke
03-15-2014, 10:04 PM
This is the richness of hg X in Italy only from Mitosearch:
User ID HVR1 Mutations
HVR2 Mutations

I have tried uploading my HVR-I & HVR-II results to Mitosearch, but keep receiving an error (The URI is empty.) I'm not sure yet if it is because I am limited to only uploading FMS (not only HVR-I & HVR-II data) -or- because I created an account and uploaded my father's FMS to Mitosearch last year and I am trying to use the same account now to upload my data.

I had not done a lot with my father's FMS data (H31a) because (to be honest) I had been (and still am) focused on learning Y. But now I think I should take a closer look just to make sure I'm not missing anything.

A sure-fire way of discovering what one needs to learn about a subject is to actually look at the subject, you know? :\

Rathna
03-16-2014, 12:09 AM
I have tried uploading my HVR-I & HVR-II results to Mitosearch, but keep receiving an error (The URI is empty.) I'm not sure yet if it is because I am limited to only uploading FMS (not only HVR-I & HVR-II data) -or- because I created an account and uploaded my father's FMS to Mitosearch last year and I am trying to use the same account now to upload my data.

I had not done a lot with my father's FMS data (H31a) because (to be honest) I had been (and still am) focused on learning Y. But now I think I should take a closer look just to make sure I'm not missing anything.

A sure-fire way of discovering what one needs to learn about a subject is to actually look at the subject, you know? :\

Everyone may upload his data to Mitosearch. I have uploaded hundreds of Y on Ysearch and of mt on Mitosearch in these years extracted fom SMGF. Also recently 1 X2d1, and have other two from the same haplogroup always from SMGF.
This is yours: QMBY6.
1) Your data were in RSRS and have to be converted in rCRS. If you go on your account at FTDNA you may see your rCRS data by clicking on rCRS. You may send them to me ([email protected]) or publish them here.
2) When you upload your data both to Ysearch and Mitosearch you get a "server error", but the data have been registered, and if you go on the site you may search for them from the haplogroup you have put or by surname. So I did.
3) Probably the Italian first name of your ancestress was Marianna more than Mariana, and that I put.
4) If you want to master your data after having uploaded them I'll delete my account.

Rathna
03-16-2014, 04:35 PM
I am seeing that you uploaded your data:
User ID HVR1 Mutations HVR2 Mutations
K4MQB 189C, 223T, 278T, 519C 073G, 195C, 204C, 207A, 263G, 315.1C
gu76v 189C, 223T, 278T, 519C 073G, 195C, 204C, 207A, 263G, 309.1C, 315.1C
QMBY6 189C, 223T, 278T, 519C 073G, 195C, 204C, 207A, 315.1C, 480C
RWHS9 189C, 223T, 278T, 519C 073G, 195C, 204C, 207A, 309.1C, 315.1C, 480C
Did you from FTDNA site? I am seeing that you have also 309.1C. The closest to you is GU76V, but without 263A and 480C. Of course only an FMS could say how close you are.
I'll delete my account.

Geolocke
03-16-2014, 08:23 PM
I am seeing that you uploaded your data:

Yes, I am seeing that now.

Thanks for the suggestion on Marianna. The information I have is from a distant cousin on the Cellini side, descended from the uncle of my great-great-grandfather, Giacomo Cellini.

Giacomo Cellini married Marianna Alfieri in the church of San Giorgio, Vicopelago, Lucca, Italy sometime about 1853 or 1854. my distant cousin visited the church around year 2000 and took photos of the church registers, but he was focused on the Cellini family and did not look at any of the related families.

Perhaps someday I can return to Italy and see the records for myself. In the meantime I will see if LDS has film of those records. The Cellini family in that church continue back in the records to the 1760's, so perhaps Marianna's family can also be found there. It might help any future researchers if I can take that maternal line back another generation or two, especially if there is ever a perfect match on my mito test (as rare as that seems now).

Rathna
03-16-2014, 09:21 PM
I think that LDS has copies of all the registers both from Churches and "Comuni" and you may find there all you need. Cellini is certainly in this case a typical Tuscan surname (even though diffused overall in Central-North Italy): see the famous goldsmith Benvenuto Cellini, but not typical of Lucca, more of Florence.
From pretty the same place of your ancestress comes the R0a2 of an American of Italian ancestry I am studying.