Another mtDNA H from the Italian Refugium?


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PostPosted: Thu May 02, 2013 9:38 am
This sequence has been published by Ian Logan on Rootsweb:

KC964603(Italian) FTDNA Haplogroup H13a1 1-MAY-2013
A263G 315.1C A750G A1438G A4769G C6340T A8860G A10403G A11069G T14025C G15314A A15326G T16519C

It isn’t of course H13a1 and, as I was banned from there at the end of 2007, I have written to Ian privately. This is his answer I permit to publish, because it is a scientific contribute:

Hello Gioiello

Thank you.

I didn't check the haplogrouping on this new Italian sequence - and it is clearly not 'H13a1'
as the submitter suggested (whosoever he is).

Looking at A11069G: I find 3 sequences

HQ593807.2(Italian) Zaragoza Haplogroup [H] 13-JAN-2011
C151T A263G 309.1C 315.1C A750G A1438G A4769G A8860G A11069G T11353C A15326G T16249C T16519C

JQ703248(Finland) Behar Haplogroup [H] 07-APR-2012
A263G 315.1C A750G A1438G A4769G A8860G A10403G A11069G T11944C T14025C G15314A A15326G G16319A T16519C

KC964603(Italian) FTDNA Haplogroup [H] 1-MAY-2013

A263G 315.1C A750G A1438G A4769G C6340T A8860G A10403G A11069G T14025C G15314A A15326G T16519C
And it looks as if the mutation string 'A10403G, A11069G & T14025C' might suggest a novel subgroup in H.
- But not particularly Italian, unfortunately.

Thanks again

Ian

My answer:

Why "unfortunately"? I haven't studied the matter (with all the problems I have now) but two Italians out 3 and a Finlander should make us think to another case of "Italian Refugium". Why not? Certainly if H isn't from Middle East is more likely from Italy than Finland or at least from the Cantabrian Refugium.
Regards, friendly

I add now that of course also G15314A is common between the Finlander and the Italian and the other Italian (HQ593807) with only A11069G could be at the origin of this subclade.

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PostPosted: Thu May 02, 2013 10:32 am
Also this sample from Behar 2012b should be added and also this comes from Italy:

Sample Id: MC2058
Unresolved Options:
Verified
Partial Descendants:
Private Mutations: 315.1C 522.1A 522.2C C6340T A10403G A11069G T14025C G15314A
Topologically Missing:
Country: Italy
Geography: Veneto
Ancestry:
Reference:
Contact:

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PostPosted: Sun May 05, 2013 6:19 am
For sample HQ593807, where did you find Italian ancestry? It appears to be a sample submitted from a health study by Zaragoza et al. in California.


The "Veneto" sample is the sample submitted to GenBank, so it looks like one sample from Italy and one from Finland, and the Zaragoza sample.

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PostPosted: Sun May 05, 2013 8:14 am
GailT wrote:For sample HQ593807, where did you find Italian ancestry? It appears to be a sample submitted from a health study by Zaragoza et al. in California.


The "Veneto" sample is the sample submitted to GenBank, so it looks like one sample from Italy and one from Finland, and the Zaragoza sample.


That HQ593807 was of Italian ancestry (even though tested in California, but many Italian scholars were among the authors of the paper) is written in the released data and isn’t an addition of mine.

What do you mean when you say that the “Veneto sample” is that submitted to GenBank? That it is the same KC964903? But it has the mutations 522.1A and 522.2C which the other hasn’t, or you know for certain that they are the same? Ian Logan asked me the meaning of the MC signatures, and I said that they probably were samples of FTDNA given to Behar and not yet deposited to GenBank. Do you know something more careful about this? Do you mean that the first is a rCRS signature and the other a RSRS one?

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PostPosted: Sun May 05, 2013 8:39 am
The paper says: "We analyzed complete mtDNA sequences from 29 Italian patients with mitochondrial cardiomyopathy or suspected disease."

I am afraid to be right once more. This ancient H subclade is very likely from Italy.

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PostPosted: Sun May 05, 2013 9:05 am
This sample, with the mutation A11069G, was classified H2 by the authors:

m.11069A>G MT-ND4 p.I104V 0.36 _ H2 4 None

Ian Logan, in private letters, was more subtle than you in denying something to Italy, saying that this sample has nothing to do with the others. I said that the mutations A11069G is so rare that it would be astonishingly that it were happened twice only in hg. H.
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PostPosted: Sun May 05, 2013 5:29 pm
Gioiello wrote:This sample, with the mutation A11069G, was classified H2 by the authors:

m.11069A>G MT-ND4 p.I104V 0.36 _ H2 4 None

Ian Logan, in private letters, was more subtle than you in denying something to Italy, saying that this sample has nothing to do with the others. I said that the mutations A11069G is so rare that it would be astonishingly that it were happened twice only in hg. H.


How can they be H2 samples if all 3 as per post #1 have 1438G and 4769G ...........these alone remove them to another branch
Fathers mtdna - T2b17 ...back to 1860 Bucciol line
Grandfathers mtdna - T1a1e ...back to 1820 Mestriner line
Sons Mtdna - K1a4 ....back to 1840 Tesser line
Maternal grandfather ydna - Ild-P109

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PostPosted: Sun May 05, 2013 6:25 pm
stoeni wrote:
Gioiello wrote:This sample, with the mutation A11069G, was classified H2 by the authors:

m.11069A>G MT-ND4 p.I104V 0.36 _ H2 4 None

Ian Logan, in private letters, was more subtle than you in denying something to Italy, saying that this sample has nothing to do with the others. I said that the mutations A11069G is so rare that it would be astonishingly that it were happened twice only in hg. H.


How can they be H2 samples if all 3 as per post #1 have 1438G and 4769G ...........these alone remove them to another branch


Yes, of course. I didn't make note this, because it was incredible for me that such scholars didn't note this. But these are the authors of such papers! Perhaps you know that I have broken in pieces many papers, like that of Brisighelli et alii, and I am not a geneticist but a man of letters.

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PostPosted: Sun May 05, 2013 10:11 pm
Gioiello wrote:That HQ593807 was of Italian ancestry (even though tested in California, but many Italian scholars were among the authors of the paper) is written in the released data and isn’t an addition of mine.


Thanks - the GenBank entry did not include the country of origin, and many of the medical papers do not specify, so it is very nice that the authors stated that all 29 samples in this study were from Italy. I wish we could get all of the medical studies to specify a country of origin in GenBank for the samples.

Gioiello wrote:What do you mean when you say that the “Veneto sample” is that submitted to GenBank? That it is the same KC964903? But it has the mutations 522.1A and 522.2C which the other hasn’t, or you know for certain that they are the same? Ian Logan asked me the meaning of the MC signatures, and I said that they probably were samples of FTDNA given to Behar and not yet deposited to GenBank. Do you know something more careful about this? Do you mean that the first is a rCRS signature and the other a RSRS one?


I'm a volunteer admin for the mtDNA H projects and confirmed that the KC964903 is the same person as the MC sample. This group is listed in the H Discovery project page as "H* - A11069G - proposed new H subclade". The GenBank entry JQ703248 is identified as Finland but it appears that it should actually be Sweden. It might be an coincidence, but the people from Finland/Sweden and Italy both have a most distant female ancestor named Margareta.

I believe you are correct that the MC signatures are people who recently tested and gave permission for their results to be used in research, but have not yet been published by Doron Behar in GenBank. I've also noticed the 522.1A and 522.2C listing is inconsistent in some of these samples, so I assume it is a confusion of rCRS versus RSRS, and it will be corrected when submitted to GenBank, but I don't have any specific or certain knowledge of this.

I'd like to see a much larger sample size for this group, but it is interesting that we have two samples from Italy and one from Finland/Sweden.

Posts: 2331
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PostPosted: Mon May 06, 2013 4:08 am
GailT wrote: It might be an coincidence, but the people from Finland/Sweden and Italy both have a most distant female ancestor named Margareta.


Of course the common ancestress of the Finland/Sweden sample and of the Italian one cannot be the same Margareta/Margherita: they have two different mutations in the Coding Region (C6340T T11944C) and the common ancestress probably lived many thousands of years ago.

If HQ593807 belongs to the same haplogroup for A11069G I’d say that the origin is probably in Italy.
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