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Author Topic: MtDNA H and the Italian Refugium  (Read 3175 times)
Maliclavelli
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« on: May 25, 2011, 06:50:31 AM »

The 23andMe test of my cousin (daughter of my father’s sister) has demonstrated that my father was mtDNA H (with 3 mutations that determine a cluster: 5460A, 10124C, 15617A), then the most ancient H, ancestor of all the subclades. Also this haplogroup has probably an Italian origin: it has been found by Irene Pichler on Hutterites’ families and in HM034305.
« Last Edit: March 06, 2012, 05:00:48 PM by Maliclavelli » Logged

Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Heber
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« Reply #1 on: August 04, 2011, 01:12:00 AM »

http://www.buildinghistory.org/distantpast/ancientdna.shtml
Jean has an interesting list of ancient DNA on her website.
If I plot my defining mutations for H1C1 (my maternal haplogroup) and cross check against the list of ancient mtDNA, I get a remarkably consistant picture with most matches located in Iberia and Italy and additional matches located in Denmark, Poland and Hungary.

H1c1 defining mutations                     
variant   call   rCRS   anc   Period   Age   Place   Person
                     
i3000812      9150   A            
i3001765      16263   T            
i3001767      16263   T            
H1c defining mutations            Historic      Ireland   
variant   call   rCRS   anc            
                     
rs41442247      477   T   Iberian      Iberia   
H1 defining mutations            Iberian      Iberia   
variant   call   rCRS   anc            
                     
rs3928306      3010   G   Iberian      Iberia   Denmark
H defining mutations                     Nicolas Copernicus
variant   call   rCRS   anc            
                     
rs2854128      2706   A            
rs2015062      7028   C   Iberian      Iberia   Denmark
HV defining mutations                     
variant   call   rCRS   anc            
                     
rs3135031      14766   C   Iberian      Iberia   
R0 defining mutations                     
variant   call   rCRS   anc            
                     
rs2853495      11719   G   Gravettian      Italy   
i3001044      11719   G            
R defining mutations                     
variant   call   rCRS   anc            
                     
rs2854122      12705   C            
rs2853513      16223   C            
N defining mutations                     
variant   call   rCRS   anc            
                     
i3000759      8701   A            
rs34488815      8701   A            
rs2248727      9540   T            
i3001497      9540   T            
rs2853826      10398   A   Gravettian      Italy   
rs2857284      10873   T            
rs28573847      15301   G            
i3001523      15301   G            
L3 defining mutations                     
variant   call   rCRS   anc            
                     
rs2853519      769   G            
i3001949      769   G            
rs2856982      1018   G            
i3001452      1018   G

Here is what Wiki has to say about H1.
Subhaplogroup H1 encompasses an important fraction of Western European mtDNA, reaching its local peak among Basques (27.8%) and being also very important among other Iberians, North Africans and Sardinians. It is above 10% in many other parts of Europe (France, British Isles, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent.

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A
« Last Edit: August 04, 2011, 01:21:16 AM by Heber » Logged

Heber


 
R1b1a2a1a1b4  L459+ L21+ DF21+ DF13+ U198- U106- P66- P314.2- M37- M222- L96- L513- L48- L44- L4- L226- L2- L196- L195- L193- L192.1- L176.2- L165- L159.2- L148- L144- L130- L1-
Paternal L21* DF21


Maternal H1C1



Maliclavelli
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« Reply #2 on: August 04, 2011, 03:34:56 AM »

Perhaps I didn’t explain very well my thinking. If you read a posting of mine I posted here, General discussion, thread “South Tyrol or Alto Adige?”, my thinking will be clearer:

“At last I could see the paper of Pichler et alii “Drawing the history
of the Hutterite population on a genetic landscape: inference from
Y-chromosome and mtDNA genotypes”, EJHG (2010),18, 463-470, having
become for free.
We knew the abstract and the haplotypes published, but now I can say
something more careful.
The paper has investigated the Hutterites’ haplogroups, who came from
South Tyrol but wandered in Central and Eastern Europe. Which is the
ideology of Fraülein Pichler? To investigate which haplogroups come
from South Tyrol or are due to an introgression from those last
places. It is understood that what hasn’t come from there is South
Tyroler, then German.
I could have been in silence, but it so happens that two of the most
important haplotypes found (mt H* and K1a1b1) are also mine: mother
(K1a1b1) and paternal grandmother (H*).
Perhaps if Fraülein Pichler had investigated, beyond Central and
Eastern Europe, my Tuscany, would have found that those (and other)
haplotypes aren’t German in origin, but come from that Italian
refugium by me theorized, that of Camuns Rhaetians Etruscans, who were
probably the original peoples of Italy. Germans came out from the
Refugium with Celtic Italic peoples to Central Europe, I think before
LBK (they were LBK), and after they returned to South in more recent
times.
The massive presence of K1a, with high variance, the most ancient H*
(my paternal grandmother Italia Cheli (1894-1959) 100% Tuscan, tested
through my cousin Monica De Conti by 23andMe, has, even though by the
only 3000 SNPs tested and not by an FGS, the mutations of the coding
region 5460A, 10124C, 15617A), the Y R1a* (probably M420) I just
signaled  from the previous paper of Pichler et alii (Genetic
structure in contemporary south Tyrolean isolated populations revealed
by analysis of Y-chromosome, mtDNA, and Alu polymorphisms, Hum Biol
2006, 78, 441-464), the hg. E(xE3a). There is also an E3a (ST 103), that found also in Mr Gabennesch (I have written many letters to him and to many forums), apparently from African origin at the time of the Roman Empire, but I don’t exclude a
more ancient origin. That those Africans liked of Italy only those
snowy mountains is a little believable and those haplotypes of E(xE3a), using the
MR of Pichler of 0,00066 (lower than the Zhiv one), have a MRCA about
8500 years ago. It would be interesting to test these E-s for the last SNPs found by Fulvio Cruciani & colleagues”.

I didn’t question the Franco Cantabrian refugium for the most ancient European haplotypes (I questioned that R1b1b2 were there).
Of course also the H* of my cousin/father, with its numerous mutations in the coding region, will be able to be a new subclade of H and perhaps not at the origin of this haplogroup. My thought was simply to indicate where to find the ancestors of modern Tyroleans, i.e. mostly in Italy. That’s all.

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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Richard Rocca
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« Reply #3 on: February 10, 2012, 10:29:53 AM »

I have been so obsessed with Y-DNA over the last two years that I took my time in ordering my mtDNA test. Well, I finally have the results, and as per the initial HVR1 test, I have been classified as simply belonging to haplogroup H. The only mutation difference from rCRS is 16311C, which I understand can belong to multiple subgroups. I ordered HVR2 as well to see what that tells me. My most distant maternal ancestor was Dora Bossi, born 1914 in Lanús Partido, Buenos Aires Province, Argentina. Her roots, including maternal are unknown Italian.

So, at a high level, I'm R1b1a2 + H. Not very original, am I?
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Paternal: R1b-U152+L2*
Maternal: H
Maliclavelli
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« Reply #4 on: February 10, 2012, 11:58:44 AM »

Unfortunately hg. H, without an FGS (or at least 23andme, which was very convenient when I tested my familiars last year), won’t be defined. To be sure of my mt and of  my wife’s and sons  I had to do the FGS, which is definitive and, done by  Prof Greenspan, “final” we’d say in Spanish.
You are  R1b1a2 and H, like my father. I am R1b1a2 and K. We are Europeans, boy!
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Richard Rocca
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« Reply #5 on: February 10, 2012, 12:09:34 PM »

Unfortunately hg. H, without an FGS (or at least 23andme, which was very convenient when I tested my familiars last year), won’t be defined. To be sure of my mt and of  my wife’s and sons  I had to do the FGS, which is definitive and, done by  Prof Greenspan, “final” we’d say in Spanish.
You are  R1b1a2 and H, like my father. I am R1b1a2 and K. We are Europeans, boy!


From what I've seen of H samples with only 16311C, I will likely be classified as either H* or HV* after my HRV2 test. For the time being, that is good enough for me. I plan on doing full genome testing (all chromosomes) when it becomes available at around $1000, so I can't see myself spending more money on just the full mtDNA test. We will see what comes up.
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Paternal: R1b-U152+L2*
Maternal: H
Maliclavelli
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« Reply #6 on: February 10, 2012, 12:25:39 PM »

Yes, we all are waiting for the $1000 genome and the sequencer is ready and not so expensive: 150,000$. I wonder that nobody is offering this test, but of course it would make obsolete all the other machines.
« Last Edit: February 10, 2012, 04:33:56 PM by Maliclavelli » Logged

Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

thetick
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« Reply #7 on: March 06, 2012, 02:50:27 PM »

Also think the cost per test is around $1000 so with a $150,000 initial machine cost it will be a little while before we see $1000 retail cost.  DNA companies have to pay employees, pay the bills and try to make a profit. 
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YDNA: R1b-SRY2627
MtDNA: H5a1f
Maliclavelli
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« Reply #8 on: April 06, 2012, 11:25:53 AM »

In this last Phylotree, after the paper of Behar et al., the hg. H* of my father and of those Hutterites of the paper of Irene Pichler, are labelled : H41a.
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

OConnor
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« Reply #9 on: April 18, 2012, 09:10:40 AM »

I have a new HVR1&2 match today. This one from Norway.

I have 7 matches for both HRV1 and 2.
So far only 3 of us list a country of origin.

(mine) H3.. Jesse Martin, Isle of Skye, Scotland.
HVR1=16145A 16519C
HVR2=152C, 263G, 309.1C, 309.2C, 315.1C


Maren Nilsdatter Vatn, 1718-1778 Levanger, Trøndel

Mary Dobson,b.c1811, Kaber, Westmoreland, ENG

Looking at the Norway Project it seems H is the dominant group.
http://www.familytreedna.com/public/norway/default.aspx?section=mtresults

Though I don't know if any of them are of ancient H lines?
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R1b1a2a1a1b4


R-DF13**(L21>DF13)
M42+, M45+, M526+, M74+, M89+, M9+, M94+, P108+, P128+, P131+, P132+, P133+, P134+, P135+, P136+, P138+, P139+, P14+, P140+, P141+, P143+, P145+, P146+, P148+, P149+, P151+, P157+, P158+, P159+, P160+, P161+, P163+, P166+, P187+, P207+, P224+, P226+, P228+, P229+, P230+, P231+, P232+, P233+, P234+, P235+, P236+, P237+, P238+, P239+, P242+, P243+, P244+, P245+, P280+, P281+, P282+, P283+, P284+, P285+, P286+, P294+, P295+, P297+, P305+, P310+, P311+, P312+, P316+, M173+, M269+, M343+, P312+, L21+, DF13+, M207+, P25+, L11+, L138+, L141+, L15+, L150+, L16+, L23+, L51+, L52+, M168+, M173+, M207+, M213+, M269+, M294+, M299+, M306+, M343+, P69+, P9.1+, P97+, PK1+, SRY10831.1+, L21+, L226-, M37-, M222-, L96-, L193-, L144-, P66-, SRY2627-, M222-, DF49-, L371-, DF41-, L513-, L555-, L1335-, L1406-, Z251-, L526-, L130-, L144-, L159.2-, L192.1-, L193-, L195-, L96-, DF21-, Z255-, DF23-, DF1-, Z253-, M37-, M65-, M73-, M18-, M126-, M153-, M160-, P66-

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Maliclavelli
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« Reply #10 on: April 18, 2012, 11:50:03 AM »

Unfortunately, in your case (T152C and G16145A), without an FGS it is impossible to say which is your subclade.
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

OConnor
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« Reply #11 on: April 19, 2012, 05:25:36 AM »

my ftdna homepage has me listed as H3.

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R1b1a2a1a1b4


R-DF13**(L21>DF13)
M42+, M45+, M526+, M74+, M89+, M9+, M94+, P108+, P128+, P131+, P132+, P133+, P134+, P135+, P136+, P138+, P139+, P14+, P140+, P141+, P143+, P145+, P146+, P148+, P149+, P151+, P157+, P158+, P159+, P160+, P161+, P163+, P166+, P187+, P207+, P224+, P226+, P228+, P229+, P230+, P231+, P232+, P233+, P234+, P235+, P236+, P237+, P238+, P239+, P242+, P243+, P244+, P245+, P280+, P281+, P282+, P283+, P284+, P285+, P286+, P294+, P295+, P297+, P305+, P310+, P311+, P312+, P316+, M173+, M269+, M343+, P312+, L21+, DF13+, M207+, P25+, L11+, L138+, L141+, L15+, L150+, L16+, L23+, L51+, L52+, M168+, M173+, M207+, M213+, M269+, M294+, M299+, M306+, M343+, P69+, P9.1+, P97+, PK1+, SRY10831.1+, L21+, L226-, M37-, M222-, L96-, L193-, L144-, P66-, SRY2627-, M222-, DF49-, L371-, DF41-, L513-, L555-, L1335-, L1406-, Z251-, L526-, L130-, L144-, L159.2-, L192.1-, L193-, L195-, L96-, DF21-, Z255-, DF23-, DF1-, Z253-, M37-, M65-, M73-, M18-, M126-, M153-, M160-, P66-

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Maliclavelli
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« Reply #12 on: April 19, 2012, 06:40:33 AM »

my ftdna homepage has me listed as H3.
I have seen this, but with T152C there are many possibilities amongst the H subclades and also FTDNA would have an interest that you did an FGS.
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Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

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