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Author Topic: The expansion of K1a1b1e from the Italian Refugium  (Read 1152 times)
Maliclavelli
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« on: July 19, 2012, 03:27:17 PM »

1
Hi Ian. I thank for this haplotype:

JX287343 FTDNA Haplogroup K1a1b1e 15-JUL-2012
A73G A263G 315.1C T477C C497T A750G T1189C A1438G A1811G A2706G
A3480G A4769G C7028T A8860G G9055A A9214G T9698C G9932A A10398G A10550G  T11299C A11467G A11470G G11719A G11914A A12308G G12372A C14167T C14766T T14798C A15326G A15924G T16224C T16288C T16311C T16519C

It is my haplotype, even though with some mutations, and this demonstrates its ancientness.
Nothing about its origin?
This hg. is clearly born in Italy, even though some samples are found in the Isles, of course by the expansion from South Europe.

2
On SMGF there are 26 people from the Isles with 477C, even though none has 16288C. Then I think that this K1a1b1e is from the Isles, far descendants from my ancestress.

3
On Mitosearch there are other people with one or both this mutations (477C, 16288C), and they aren’t only from the Isles but also from Central Europe till Scandinavia.
A marvellous demonstration of the expansion from the Italian Refugium!
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #1 on: July 19, 2012, 11:14:12 PM »

Re: K1a1b1e « Reply #2 on: May 06, 2012, 05:30:26 AM »    
 
Also DQ112894, published on Ian Logan spreadsheet and belonging to K1a1b1e, is Italian:
See:  T. Kivisild et al., “The Role of Selection in the Evolution of Human Mitochondrial Genomes”, Genetics Society of America, 2006: Eu25   Italian


EF657432, published in Herrnstadt et al., Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups, Am. J. Hum. Genet. 70 (5), 1152-1171 (2002), was submitted by (08-JUN-2007) Department of Biochemistry and Molecular Biology 'Ernesto Quagliariello', University of Bari, Via Orabona 4, Bari 70126, Italy.

Dear Whoknows, but who knows you?
I am not a “she” but a “he”, exactly that Gioiello Tognoni K1a1b1e. Why do a few reply to me? For many reasons.
1)   Mine are scientific observations and to reply to me one should know enough to understand what I say, and evidently there are a few, also amongst many versed in other fields, who get this (see the famous Nordtvedt, Vizachero, Klyosov, or the popular Jean Manco etc.). But I have many friends here, first of all Richard Stevens, who invited me here after my banishments from Rootsweb, Dna-forums and lastly also Dienekes and Maju evidently don’t like me much. But Richard Rocca had the intelligence to not underestimate my theories.
2)   I am Italian, Tuscan, and evidently Wasp have always some prejudice against us “pizza” and “mandolino”. They cannot say to me “mafia” because I am a Tuscan and of Sicilian I have only the wife.
3)   But the most important reason is that my theories, which I think are winning along all the line, were against the believing of all, also of the plethora of geneticists and researchers who haven’t understood anything of this stuff so far.

On SMGF there are 24 “Wasp” probably K1a1b1e like me with the mutations
16224C
16311C
16519C
73G
263G
315.1C
477C
497T

I am waiting that someone test them for the coding region. After I think that my theory shall be recognized by everyone […]
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #2 on: July 21, 2012, 01:10:40 AM »

In my researches to demonstrate the origin from Europe also of the K1a1b1a of a large part of Jewish Ashkenazim, besides the Italian sample who matches them and whose so far we haven't yet disclosed the name, I found some similar haplotypes in the Argentinean pool, but which lacked the mutation characteristic of K1a, i.e. 497T. I hypothesized that there could have happened a back mutation, and had an exchange of letters also with Bill Hurst (and the same Antonio Salas), who said that this back mutation hadn’t ever been observed.
Now we have in these last K1a1b1e, I have spoken about above, these samples:

User ID   HVR1 Mutations   HVR2 Mutations
Y6FRN   224C, 311C, 519C   073G, 263G, 315.1C, 477C, 497T
2E729   224C, 288C, 311C, 519C   073G, 152C, 263G, 315.1C, 497T, 523.1C, 523.2A
3CCPX   224C, 288C, 311C, 519C   073G, 263G, 315.1C, 477C, 497T
A9ZQZ   224C, 311C, 519C   073G, 263G, 315.1C, 477C, 497T
JJEHQ   224C, 288C, 311C, 519C   Not Tested
JSP3T   224C, 288C, 311C, 519C   Not Tested
PT32V   224C, 288C, 311C, 519C   Not Tested
R4Z2J   192T, 224C, 288C, 311C, 519C   073G, 152C, 195C, 263G, 315.1C [497C?]
TU8T7   224C, 288C, 311C, 519C   073G, 152C, 263G, 315.1C, 497T, 499A, 523.1C, 523.2A, 523.3C, 523.4A
TWE8P   224C, 288C, 311C, 519C   073G, 152C, 263G, 497T, 524.1A, 524.2C, 524.3A, 524.4C
V4ADM   224C, 288C, 311C, 519C   073G, 152C, 263G, 315.1C, 497T, 524.1C, 524.2A
V9UMM   224C, 288C, 311C, 519C   073G, 152C, 263G, 315.1C [497C?]
ZC2JB   224C, 288C, 311C, 519C   Not Tested

where we can see that probably this mutation can have happened

It would be important to test one of these samples for an FGS and we could also see if the sample with 16288C but not 477C are they too K1a1b1e or not.
« Last Edit: July 21, 2012, 07:10:22 AM by Maliclavelli » Logged

Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #3 on: July 21, 2012, 06:29:15 AM »

(To an anonymous reader)

Yes, it is very likely that you are K1a2c:

JQ703037 Behar Haplogroup [K1a2c] 07-APR-2012
A73G T152C A263G 315.1C C497T 523.1C 523.2A 523.3C 523.4A A750G A942G T1189C A1438G A1811G A2706G A3480G T4216C A4769G C7028T G7775A G8392A A8860G G9055A A9491G T9698C A10398G A10550G T11025C T11299C A11467G G11719A A12308G G12372A C14167T C14766T T14798C A15326G C16192T T16224C T16288C T16311C T16519C

Even though the mutation C16192T, which you haven’t, raises the problem of R4Z2J [
R4Z2J   192T, 224C, 288C, 311C, 519C   073G, 152C, 195C, 263G, 315.1C [497C?]
]and the back mutation in 497. But all these samples demonstrate, I think, that our haplogroup has evolved closely with many episodes of heteroplasmy not only of independent mutations. I have spoken on eng.molgen (and also Bill Hurst replied to me), but I writes above all on www.worldfamilies.net, of a subclade, not yet identified but far to mine, with my rare mutation T11204C.

Gioiello


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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #4 on: July 22, 2012, 12:44:07 AM »

I have received this letter by our anonymous reader and I am sorry he doesn’t want to publish his posts, as he seems to me one of the most prepared people who read these forums and I permit to publish it like a useful contribute to our discussion and research, because many of us are researchers and make theories even though we are considered “Hobbyists”:

“With respect to the Mitosearch entries lacking an expected 497T
(R4Z2J and V9UMM), I doubt it's a back mutation (even if those
could happen). Look at the testing labs; both R4Z2J and V9UMM
report having tested with Ancestry.com (none of the others in
your list seem to have done that). My guess is that Ancestry.com
simply doesn't test position 497, wherefore it's not included in
the results regardless of whether in reality it's C or T.

William Hurst maintains a list of hg K results from labs other
than FTDNA; it shows 19 entries from Ancestry.com but the only
one of those to indicate a 497T mutation is one merging the
result from Ancestry.com with that from DNA Heritage:

http://www.familytreedna.com/public/mtDNA_K/default.aspx?section=results

This is in spite of subclade K1a accounting for about 60 percent
of all of K (according to Hurst). Seems like a pretty strong
correlation to me. You may want to examine his list in closer
detail to see if there are haplotypes in the Ancestry.com subset
likely to belong within K1a.

Looking at dna.ancestry.com without logging in (I'm not a customer
of theirs) I couldn't find any specific information on what parts
of mtDNA they test, but in order to focus on practical genealogy
they seem to promote their Family Finder test over mtDNA and Y-DNA
tests, so I don't think exact mtDNA haplotype results matters a
lot to them, if they can identify the subclade.

There is also the issue of users manually having to enter their
mutation data at Mitosearch themselves. Mistakes can happen, and
I've seen a few obvious cases of bad data entry. But here I think
the choice of lab is the most likely explanation”.
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #5 on: July 22, 2012, 12:45:53 AM »

I thank you for your letter. Probably you are right, as for your
haplogroup. Anyway the problem of the heteroplasmy in hg. K I think
should he investigated yet, because it is very strange that mutations
so rare like mine (T11204C) are so diffused in hg. K.

Many thanks, Gioiello Tognoni
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #6 on: July 22, 2012, 09:44:52 AM »

This has written Bill Hurst on eng.molgen:

Hi Gioiello and all,

Ancestry.com does not test for position 497 because they don't test the "classic" HVR3, which FTDNA tests for as part of HVR2. That's from about position 400 to 574. I've never seen an Ancestry.com result with 497T, although I've seen several that should have it. For example, the last one on the list on the Results tab on the K Project website is labeled K1a24a. It doesn't have 497T. But you can't be a K1a24a without being a K1a; and you can't be a K1a without 497T. Case closed. Ancestry also misses 498-, the definer of K1c, and 512C, the definer of K2a2a1, the smallest of our Ashkenazi subclades.

Your 11204C is found in several K subclades and several other haplogroups. You have the only one on GenBank in K1a1b1e. But there are only about eight of that subclade on GenBank and very few that I know about not yet on GenBank. They don't have 11204C. Just about everybody in K1a1b1e has some variation. No big deal. Nothing strange at all.

Bill Hurst

and this is my answer:

Hi William,
I thank you very much for your response. I asked you already in the past about 11204C in K1a1b2 (from India) when I was only K1a1b1, and you gave me the same answer. Yes, the problem is that mutations may happen autonomously, and this happens frequently, but a very rare mutation has less possibilities to happen autonomously. My question is whether a heteroplasmy at the beginning of a star differentiation may occur in some of the subclades and not in others. This could be important also to understand the age and the place where a haplogroup was born.
You say “Ashkenazi haplogroup”, but what do you mean? That it came from Ancient Israel? “K2a 152 709 4561” is European, “K2a2 8697” is European, of “K2a2a 11348” I don’t know any sample, and “K2a2a1 A512c A9254G G11914A!” is Ashkenazi. What do you mean?, because the problem is to understand who comes from where. K2a2a1 has 3 mutations, one in HVRIII, not considered for determining a subclade and certainly important, a transversion, and 2 in the coding region, and 1 a back mutation, almost the same of K1a1b1a respect to K1a1b1, but where did the ancestress come from? Was it born for spontaneous generation?
As I have said many times also for the origin of K1a1b1a, Ashkenazim (certainly with other supplies during the centuries) passed from 4000 in the second half of the 1st Millennium AC to 10,000,000 before WWII, then many meioses and many mutations.

« Last Edit: July 22, 2012, 09:45:15 AM by Maliclavelli » Logged

Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #7 on: July 22, 2012, 02:07:22 PM »

Bill Hurst’s answer on eng.molgen:

Hi again Gioiello,
I'm studying heteroplasmies now, so I'll have more on that later.
Dr. Behar's 2006 paper said that the four main Ashkenazi subclades - including K1a1b1a, K1a9 and K2a2a1 (recently renamed from K2a2a) - originated in the Rhine Valley about 2000 years ago. Look at the Google maps on our K Project website. I see no reason to disagree with Behar.
K2a2a1 does have more than one defining mutation, but 512C is sufficient to identify the subclade. Every K2a2a1 has 512C and every person with 512C who takes the FMS test turns out to be in K2a2a1.
Bill Hurst

My reply:

I thank you very much, then I don’t understand why I was banned many times from Rootsweb and Dna-forum probably for having said the same, or perhaps because I added to this also many Y-haplgroups, not only my hg. R (in many of its subclades) but also many J and E thought not European ones.
Anyway I am glad so, because I have always searched for truth, whichever it is.   


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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #8 on: July 23, 2012, 01:35:35 AM »

Bill Hurst wrote: "Dr. Behar's 2006 paper said that the four main Ashkenazi subclades - including K1a1b1a, K1a9 and K2a2a1 (recently renamed from K2a2a) - originated in the Rhine Valley about 2000 years ago. Look at the Google maps on our K Project website. I see no reason to disagree with Behar".



Of course Behar 2006 doesn’t say what you wrote, otherwise my banishments wouldn’t have had any motivation. He writes that most “historical records indicate that the founding of the Ashkenazi Jewry took place in the Rhine Basin, followed by a dramatic expansion into eastern Europe. However, both the origin and size of the maternal ancestral deme remain obscure” (p. 1 of the paper), but for meaning that the “observed global pattern of distribution renders very unlikely the possibility that the four aforementioned founder lineages entered the Ashkenazi mtDNA pool via gene flow from a European host population” (p. 6) etc., which is exactly the opposite of what I have been writing in these last years.
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

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