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R.Rocca
07-24-2013, 12:35 AM
Link: http://www.r1b.org/?page_id=242

A new study by Boattini et al. (2013) has made evident the high frequency of U152 in northern and central Italy (table 1).[1] This distribution has also been observed in prior studies.[2][3][4] For the first time however, we get a clearer picture of the U152′s intra-Italy regional frequency, and we can begin to infer some links to archaeological cultures.

http://r1b.org/wp-content/uploads/2013/06/U152_Only_Map.png
Table 1 – U152 frequency (Boattini et al. 2013)

There is a clear north-south gradient for U152 frequency, but it is slight from the Alps to central Italy and the drop-off accelerates in southern Italy. The tested areas with the highest U152 frequencies are Brescia (51.3%) and Cuneo (40%) in northern Italy, followed by Pistoia (38.5%) in Tuscany. Undifferentiated U152(xL2) has a frequency peak in Brescia and Pistoia (38.5%). If small commercial testing is any indication, Brescia’s U152(xL2) is made up largely of Z36 and to a lesser extent, Z56.[5] In Tuscany, Z36 shares its importance with Z56.[6] STR values of DYS385b ≥16 in U152* samples from LaSpezia/Massa (3 of 3) and Pistoia (2 of 5) might indicate high levels of Z56 subclade Z144/Z145/Z146.

L2(xL20) has its highest frequency in La Spezia/Massa (25.0%) and Treviso (24.2%) and L20 has its highest frequency in L’Aquila (3.3%), although if we look at the small pockets of L20 overall, it looks to be somewhat more common in the north than in the south. L2 as a percentage of overall U152 frequency reaches 39.2% on the Italian Peninsula, 25% in Sardinia and 20% in Sicily. This is in contrast to L2 outside of Italy (table 2). In Italy, L2 only makes up a majority of U152 lineages in the north-east region, and is highest in Treviso overall (80.0%). Unfortunately, subclades Z49 and Z367 were not tested in Boatinni’s L2(xL20) samples.

http://r1b.org/imgs/L2_Percentage_Table.png

Boattini et al. also ran Spatial Principal Component Analyses (sPCA) based on frequencies of Y-chromosome haplogroups. They found a three-partitioned structure of Italian population: 1) North-Western Italy (including most of the Padana plain and Tuscany.), 2) South-Eastern Italy and the whole Adriatic coast, and 3) Sardinia. Lineages contributing more to the differentiation along the first sPCA were R-U152*, and to a lesser extent, R-L2* and R-P312* in North-Western Italy, and G-P15 in South-Eastern Italy (Figure 1a), and I1-M26 in Sardinia (Figure 1b).

http://r1b.org/wp-content/uploads/2013/06/Boattini_sPCA.png
Figure 1. Spatial Principal Component Analysis (sPCA) based on frequencies of Y-chromosome haplogroups.

Copper Age Populations of Northern and Central Europe:

The results of Boattini’s age estimates suggest that most of the Y-chromosomal diversity present in modern day Italians was originated from few common ancestors living during late Neolithic times and the Early Metal Ages. Interestingly, the observed paternal population clusters are similar to dental (Figure 2) and cranial (Figure 3) morphological clusters of Italian Copper Age populations.[11][12] These show a close affinities between the Copper Age people of Northern and Center-West Italy. They also show a relationship between Southern Italian groups. While the Sardinian Copper Age groups are more similar to that of Southern Italy, they are still outliers when compared to all peninsular groups. If haplogroup U152 was already the differentiating Y-DNA group in Copper Age Northern and Central Italy, ancient Y-DNA studies should focus on finding it in the Remedello Culture (Brescia), the Spilamberto Group (Emilia-Romagna) and the Rinaldone Culture (Tuscany and northern Latium). Of particular interest is the Remedello Culture, which groups closely with Bell Beakers in cranial studies.[13]

http://r1b.org/wp-content/uploads/2013/06/Copper_Age_Dental_Traits_v002.png
Figure 2 – Dental traits of Copper Age Italian Populations

http://r1b.org/wp-content/uploads/2013/06/Copper_Age_Skulls_by_Region.png
Figure 3 – Cranial groupings of Italian Copper Age skulls

Ancient Y-DNA from Bell Beaker remains have been found to be R1b.[14] However, it is difficult to see Bell Beakers as a starting point for R1b in Italy, as there is substantial cultural and geographical continuity with the preceding Copper Age groups of Northern and Central Italy.[15] Given that, it is likely that a U152 presence in Italian Bell Beaker groups was the result of continuity from their immediate Copper Age predecessors. The influence of the Central European Bell Beaker Begleitkeramik group does seem to have made an impact in the formative phase of the Polada Culture in northern Italy and the late Bell Beaker period in Tuscany.[16][17] The changes brought on by the Polada Culture are so apparent that, by unanimous opinion, a movement of human groups has been presumed between Central Europe and the Po Valley.[18][19][20] The direction or origin of the gene flow is difficult to assess however. This Early Bronze Age phenomenon may explain why L2 as a percentage of U152 is highest in north-east Italy and makes up a larger amount of U152 outside of Italy.

While mtDNA haplogroup H in Europe was likely established by the Mid Neolithic (~4000 BC), a substantial genetic contribution from subsequent pan-European cultures such as the Bell Beakers in the Late Neolithic (~2800 BC) may have contributed to its high modern day frequency.[21] The relationship between U152, Bell Beakers and mtDNA haplogroup H needs to be studied further. It is noteworthy that H1 is a North-East centered group that spreads southwards along the Apennines and H3 highlights the same North West – South East pattern observed for Y-chromosomes.

References: (see the link above)

Rathna
07-24-2013, 06:15 AM
Given that, it is likely that a U152 presence in Italian Bell Beaker groups was the result of continuity from their immediate Copper Age predecessors. The influence of the Central European Bell Beaker Begleitkeramik group does seem to have made an impact in the formative phase of the Polada Culture in northern Italy and the late Bell Beaker period in Tuscany.[16][17] The changes brought on by the Polada Culture are so apparent that, by unanimous opinion, a movement of human groups has been presumed between Central Europe and the Po Valley.[18][19][20] The direction or origin of the gene flow is difficult to assess however. This Early Bronze Age phenomenon may explain why L2 as a percentage of U152 is highest in north-east Italy and makes up a larger amount of U152 outside of Italy.

While mtDNA haplogroup H in Europe was likely established by the Mid Neolithic (~4000 BC), a substantial genetic contribution from subsequent pan-European cultures such as the Bell Beakers in the Late Neolithic (~2800 BC) may have contributed to its high modern day frequency.[21] The relationship between U152, Bell Beakers and mtDNA haplogroup H needs to be studied further. It is noteworthy that H1 is a North-East centered group that spreads southwards along the Apennines and H3 highlights the same North West – South East pattern observed for Y-chromosomes.


Perhaps the answer will come from the subclades above R-U152, i.e. from the node R1b1* to R-L51 I spoke about also in another thread about the Morley spreadsheet.
About hg. H it is a long struggle. By the 105 1KGP (I am publishing here also in my Rathna's assessment) at least in Tuscany it seems that there are so many H1, many other H and many H* but only one H3. Anyway perhaps you know I think having demonstrating that Italy had R0a (and R0a'b) and HV from at least the Paglicci people, i.e. from before the LGM. We will see if those HV died and others came from elsewhere as Jean Manco said or if all these subclades were born here in Italy.

Jean M
07-24-2013, 07:56 AM
Richard - Your link is broken. This one works: http://r1b.org/?page_id=242

Rathna
07-24-2013, 08:25 AM
Only one H3 amongst the 105 Tuscans of the 1KGP, even though it is an H3*:

NA20809
A263G 310insC A750G A1438G G1719A A4769G G4924A T6776C A8860G A15326G T16519C

with two autonomous mutations in the CR: G1719A and G4924A.

Rathna
07-24-2013, 09:34 AM
While mtDNA haplogroup H in Europe was likely established by the Mid Neolithic (~4000 BC), a substantial genetic contribution from subsequent pan-European cultures such as the Bell Beakers in the Late Neolithic (~2800 BC) may have contributed to its high modern day frequency.[21] The relationship between U152, Bell Beakers and mtDNA haplogroup H needs to be studied further. It is noteworthy that H1 is a North-East centered group that spreads southwards along the Apennines and H3 highlights the same North West – South East pattern observed for Y-chromosomes.


The mutation G4924A found in the Tuscan H3* is so rare that the fact that it is found in H3b3

JQ703291 Behar Haplogroup [H3b3] 07-APR-2012
A263G 309.1C 309.2C 315.1C A750G A1438G A2581G A4769G C4850T G4924A T6776C A8860G A12397G A15326G G16129A T16519C
and probably this is the person
" Mitosearch: AEA28
Mutations
HVR1 HVR2
1. 16129A 00263G
2. 16519C 00309.1C
3. 00309.2C
4. 00315.1C

Haplogroup: H3b
Tested with: Family Tree DNA
Contact person: LaRee Funston Contact this user

Most distant known maternal ancestor on the direct female line
First Name: Alice
Last Name: Cole
Year Born: 1591
Year Died: 1636
Country of Origin: Wiltshire, England"

should make us think that the Tuscan sample is the ancestor of these H3b3 in heteroplasmy. These samples come from the Isles, then, even though H3 is born very likely in the Cantabrian Refugium and expanded from there, a little percentage of it was present by ancient times also in Italy and expanded Northwards with many other haplogroups.
Mitosearch 4GCHV has an Italian contact person (Jim Donati), but we don't know the owner and his origin.

R.Rocca
07-25-2013, 12:23 PM
For possible geneflow, we have ceramics of the mid-Danubian Wieselburg-Culture in NE Italy and Polada lakes dwelling building techniques that are the same as those found in Lake Constance which borders Switzerland, Germany and Austria and is the close to the source of the Rhine.

Of interest is the role of Rinaldone Culture in the spread of copper metallurgy to Italy and southern France. I'll have to dig up some of the information I have on that and post it.

Rathna
07-25-2013, 02:36 PM
For possible geneflow, we have ceramics of the mid-Danubian Wieselburg-Culture in NE Italy and Polada lakes dwelling building techniques that are the same as those found in Lake Constance which borders Switzerland, Germany and Austria and is the close to the source of the Rhine.

Of interest is the role of Rinaldone Culture in the spread of copper metallurgy to Italy and southern France. I'll have to dig up some of the information I have on that and post it.

Richard, about the pile dwellings I wrote a lot on Worldfamilies and perhaps eng.molgen:
1) the oldest findings were found on Lago di Varese 4500YBC
2) pile dwellings are found in Italy on the Apennines till Abruzzo
3) I hypothesized that they were born in the Adriatic before the submersion, otherwise we don't understand why they are build also on a rise

Of course archaeology is important, but also genetics. These Sardinian SNPs (PF) are full of surprises! Anyway I'll read carefully everything you'll publish upon the argument.

Claxon
07-25-2013, 11:25 PM
Richard, about the pile dwellings I wrote a lot on Worldfamilies and perhaps eng.molgen:
1) the oldest findings were found on Lago di Varese 4500YBC
2) pile dwellings are found in Italy on the Apennines till Abruzzo
3) I hypothesized that they were born in the Adriatic before the submersion, otherwise we don't understand why they are build also on a rise

Of course archaeology is important, but also genetics. These Sardinian SNPs (PF) are full of surprises! Anyway I'll read carefully everything you'll publish upon the argument.

Bearing in mind that one idea is that U-152 is La Tene, I would mention that some La Tene areas in Britain are Lake Dweller societies. In particular, I would mention the Lake Dweller village around Glastonbury Tor. I am sure many are aware of this area being the origin of many British Mythologies ( Arthur and Guenivere buried here... or at least a grave site mentioning them) Arthur of course, brings to mind the Lady of the Lake, perhaps a religion the Lake Dwellers would have found similar. It certainly brings to mind practices at La Tene, such as the throwing of swords into a lake.

Rich C
u152 pf 4363

Rathna
07-26-2013, 02:35 AM
Bearing in mind that one idea is that U-152 is La Tene, I would mention that some La Tene areas in Britain are Lake Dweller societies. In particular, I would mention the Lake Dweller village around Glastonbury Tor. I am sure many are aware of this area being the origin of many British Mythologies ( Arthur and Guenivere buried here... or at least a grave site mentioning them) Arthur of course, brings to mind the Lady of the Lake, perhaps a religion the Lake Dwellers would have found similar. It certainly brings to mind practices at La Tene, such as the throwing of swords into a lake.

Rich C
u152 pf 4363
Claxon, La Tene is the half of the first millennium BC, we are speaking of the half of the fifth millennium, and you are a PF-man too. On the Morley spreadsheet I am seeing: 24162, 28112, B1388.
Many matches with my K1a1b1e are arriving every day from the Isles, but the origin is in Italy. British have all the mutation 477C I haven't.

Claxon
07-26-2013, 11:47 AM
Claxon, La Tene is the half of the first millennium BC, we are speaking of the half of the fifth millennium, and you are a PF-man too. On the Morley spreadsheet I am seeing: 24162, 28112, B1388.
Many matches with my K1a1b1e are arriving every day from the Isles, but the origin is in Italy. British have all the mutation 477C I haven't.

Yes, I understand that. I should have mentioned that my linking of coincidental ideas did not really relate to the discussion at hand. As you know, my interests are very much along mythological lines... but I do know that science trumps mythology.
As an afterthought in my defense, mythology does relate to "folk memory" of events, which MAY have taken place centuries earlier. ( sword, lake) ( perhaps five millennia earlier) In other words, the La Tene artefacts found in the La Tene area, may reflect an understanding from much earlier times.

I think there are two more u152 PF4363, making three Kipling, one Parker and myself ( Clarkson) As we are all quite close genetically, we are probably of one family name in a post surname time period. We are exploring the possibility we are descended from a Laurence Clarkson, the Ranter, who was quite active sexually in England in @ 1650. It would be great if we could find a Clarkson from Preston, Lancashire, ( his home) to test. He had a child with a Mary Middleton in Chelmsford in @ 1650, which is where my Clarkson family comes from.
Rc

Rathna
07-26-2013, 04:51 PM
Only one H3 amongst the 105 Tuscans of the 1KGP, even though it is an H3*:

NA20809
A263G 310insC A750G A1438G G1719A A4769G G4924A T6776C A8860G A15326G T16519C

with two autonomous mutations in the CR: G1719A and G4924A.

Actually the second H3 there is in the Tuscan 1KGP and seems Italian in its origin, even though other solutions may not be excluded for its presence not only in the Isles but also in Iberia:

H3k*
NA20520
T152C A263G A750G A1438G A4769G T6776C T8602C A8860G A14687G A15326G T16519C

R.Rocca
07-26-2013, 05:02 PM
Claxon, La Tene is the half of the first millennium BC, we are speaking of the half of the fifth millennium, and you are a PF-man too. On the Morley spreadsheet I am seeing: 24162, 28112, B1388.
Many matches with my K1a1b1e are arriving every day from the Isles, but the origin is in Italy. British have all the mutation 477C I haven't.

Just a refresh...the Claxon/Kipling U152+PF4363+ is different than the Sardinian PF4363 which was found in Sardinian haplogroup I. Thomas added the reference to U152 after the Claxon/Kipling/Parker cluster all tested positive.

Rathna
07-26-2013, 06:34 PM
Just a refresh...the Claxon/Kipling U152+PF4363+ is different than the Sardinian PF4363 which was found in Sardinian haplogroup I. Thomas added the reference to U152 after the Claxon/Kipling/Parker cluster all tested positive.

Of course I always ask if the SNP has been found in the same haplogroup, otherwise the things change. I have seen that the other rare subclades of U152* have SNPs others than PF.

R.Rocca
07-27-2013, 12:35 PM
Of course I always ask if the SNP has been found in the same haplogroup, otherwise the things change. I have seen that the other rare subclades of U152* have SNPs others than PF.

The most important SNP for U152* is Z193. It likely makes up a large amount of Sardinian U152*. However, it is in an area that is tough to create primers for, so I don't know if we'll know more about it until full genome sequencing becomes the standard.

Rathna
07-27-2013, 01:10 PM
The most important SNP for U152* is Z193. It likely makes up a large amount of Sardinian U152*. However, it is in an area that is tough to create primers for, so I don't know if we'll know more about it until full genome sequencing becomes the standard.

If I remember well some discussions of the past, it seemed ancestral to Z192 and Z194 found in Tuscans in 1KGP, or am I wrong?

P.S. The same probably for Z2104. Any news?

R.Rocca
07-27-2013, 01:39 PM
If I remember well some discussions of the past, it seemed ancestral to Z192 and Z194 found in Tuscans in 1KGP, or am I wrong?

The Tuscany samples were Z194+ which is two levels down from Z193 (in between was Z192).


P.S. The same probably for Z2104. Any news?

For the Z2103/Z2105 branches under L23, I designed a primer for an SNP that is between Z2103/Z2105 and Z2110. We'll see how quickly it can be made available as there seems to be a slowdown in FTDNA lab activity in July-August, which I assume is related to vacations.

Rathna
07-27-2013, 03:25 PM
From the Morley spreadsheet we can see that Z2110 (CTS7822) is parallel to Z2103/Z2105, then these Z SNPs from Z2103 to Z2110 for R-L23 subclades aren't always linked and all the others shall be put to their place.
The most interesting SNP, I think, is PF 7580 of Carnevali, i.e. to see if it is the ancestor of L584, then between Z2103/Z2105 and L584.

Bolgeris
07-27-2013, 07:43 PM
Ciao,
What would you think if L20 + in Italy was a residue of colonization Lombard?
Benevento and L'Aquila are secluded mountain provinces in southern Italy .. and to me it seems that L20 + may be of Lombard origin?!?
I remember the duchy of Benevento..
http://en.wikipedia.org/wiki/Duchy_of_Benevento

Rathna
07-28-2013, 12:42 AM
Ciao,
What would you think if L20 + in Italy was a residue of colonization Lombard?
Benevento and L'Aquila are secluded mountain provinces in southern Italy .. and to me it seems that L20 + may be of Lombard origin?!?
I remember the duchy of Benevento..
http://en.wikipedia.org/wiki/Duchy_of_Benevento

I don' know if you ever read some postings of mine about R-L11. English Ballard ask my help in a reasearch he was doing about his origin. We have exchanged many letters on his account on Facebook, which isn't of public domain. After a very deep research on documents of archive, it seems that his family descends from the Bellardi of Lucca and that the family was of Langobard origin. He finds the closest to him at 37 markers in Iocco from Abruzzo and links with others in many countries which seem of Langobard or Germann origin, so he concludes that R-L11, so rare in Italy, is just of Langobard origin, and this is the only subclades rare in Italy in spite of my theory of the Italian Refugium.
Then I say yes, it is possible that rare haplogroups are linked to single peoples, where they survived. Of course not only R-L11, but perhaps R-L20 and why not your R-M228.
But I am trying to search the haplotypes which remained in Italy before what I think the migration to North from the Italian Refugium. There is a R-U106 with a PF mutation which could be one of these samples. You understand that my theory is based now upon the most ancient subclades of hg R with all their PF SNPs; R-V88 with 23 PF SNPs plus 2, R1b1, R-M269 of Mangino, the R-M269 Jewish clade with 3 PF SNPs, this Z193 named by Rocca etc.
I think that migrations out and to Italy have happened many times from prehistory, and he will be clever who will be able to demonstrate this.
I think that my theory of an Italian Refugium is stronger than ever now.

Rathna
07-28-2013, 01:33 AM
The Tuscany samples were Z194+ which is two levels down from Z193 (in between was Z192).


But don't forget that Tuscan Y tested in 1KGP were 51 and Sardinian clones were 10,000.
Imagine if I could test 10,000 Manginos (Mancinis) from Tuscany!

R.Rocca
07-28-2013, 12:01 PM
But don't forget that Tuscan Y tested in 1KGP were 51 and Sardinian clones were 10,000.
Imagine if I could test 10,000 Manginos (Mancinis) from Tuscany!

It was "only" 1035 men tested in Sardinia. I wish it had been 1K insular samples however. As you know islands are very prone to founder affects.

Rathna
07-28-2013, 12:17 PM
It was "only" 1035 men tested in Sardinia. I wish it had been 1K insular samples however. As you know islands are very prone to founder affects.

Perhaps 10,000 were the SNPs found, anyway 20 times more. Not a little.

Probably to "founder effect".

Diana
07-29-2013, 10:26 PM
Hello, have been having a great summer here and took some time off finally!!

So, still nothing really conclusive on Z56, Z144/Z145/Z146 correct?

Barellalee
03-29-2014, 11:19 PM
So, as it stands, it doesn't appear that subsequent invasions, like the Phoenicians, Carthaginians, Romans, etc., had a substantial impact on Sardinia's genetic composition? Likewise, it appears that Neolithic and Metal Ages had more profound effects on South Italy than either Greeks or Phoenicians? Given the peculiarities of Sardinia's case, and how most studies insist on it being one of the most genetically separate places in Europe, it would seem that they retained most of their autochthonous and pre-colonial heritage. I shouldn't think the noteworthy percentages of R1b on Sardinia should be representative of foreign invasions necessarily, as R1b would have been more likely an early arrival/"native" as in the case of the Italian Peninsula.