New population isolates identified in the eastern Italian Alps

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This is an amazing discovery in my eyes. 1310 DNA samples were collected from six geographically isolated villages of Friuli-Venezia Giulia and were genotyped at for 145,000 SNP's. According the the authors of the study, the observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns.

The six villages are Clauzetto, Erto, Illegio, Resia, San Martino del Carso and Sauris. According to the autosomal admixtures displayed in the chart below, the inhabitants of Resia (at the border of Austria and Slovenia) are particularly unique genetically. Clauzetto and San Martino del Carso are the closest of the six to the European mainstream.

ejhg2012229f1.jpg



The model-based mapping convergence with SPA (below) also shows that the villages lie clearly away from other European populations, except the Basques, who are positioned together with some samples of Resia and Sauris. The genotypes from Erto and Illegio are halfway between the Basques and the Sardinians.

Too bad that they didn't test Y-DNA as well, as I am convinced that these Alpine populations would have a lot of haplogroup I2 and G2a. The fact that Ötzi was found in the same region and that he was genetically closest to modern Sardinians would a priori indicate that the people of Resia, Sauris, Erto and Illegio are more closely related to Ötzi than other Europeans.

ejhg2012229f2.jpg



The runs of homozygosity (gROH) reveal that the population isolates of Friuli-Venezia Giulia are very homozygous, meaning that they received very little genetic contribution from the outside over the last millennia. The Jews, the Orcadians and the Finns are other well known populations with a similar level of homozygosity.

ejhg2012229f5.jpg


Here is the full article:

Nature : Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
 
This is an amazing discovery in my eyes. 1310 DNA samples were collected from six geographically isolated villages of Friuli-Venezia Giulia and were genotyped at for 145,000 SNP's. According the the authors of the study, the observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns.

The six villages are Clauzetto, Erto, Illegio, Resia, San Martino del Carso and Sauris. According to the autosomal admixtures displayed in the chart below, the inhabitants of Resia (at the border of Austria and Slovenia) are particularly unique genetically. Clauzetto and San Martino del Carso are the closest of the six to the European mainstream.

ejhg2012229f1.jpg



The model-based mapping convergence with SPA (below) also shows that the villages lie clearly away from other European populations, except the Basques, who are positioned together with some samples of Resia and Sauris. The genotypes from Erto and Illegio are halfway between the Basques and the Sardinians.

Too bad that they didn't test Y-DNA as well, as I am convinced that these Alpine populations would have a lot of haplogroup I2 and G2a. The fact that Ötzi was found in the same region and that he was genetically closest to modern Sardinians would a priori indicate that the people of Resia, Sauris, Erto and Illegio are more closely related to Ötzi than other Europeans.

ejhg2012229f2.jpg



The runs of homozygosity (gROH) reveal that the population isolates of Friuli-Venezia Giulia are very homozygous, meaning that they received very little genetic contribution from the outside over the last millennia. The Jews, the Orcadians and the Finns are other well known populations with a similar level of homozygosity.

ejhg2012229f5.jpg


Here is the full article:

Nature : Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

friulano language is a rhaeto-romance language and is connected with the swiss via western austria. otzi was a person from "rhaetic" lands.

Could the ancient Carni tribe ( modern friulani people ) who split the venetic people/areas in half around 500BC and had invaded from the west ( some say switzerland and some say closer to toulouse ), be similar to basques?
http://en.wikipedia.org/wiki/Carni
http://en.wikipedia.org/wiki/Carnia

or where they semetic people from mesopotamia
http://www.mek.oszk.hu/05100/05110/05110.pdf
 
Amazing! I'd like to see these samples in Dodecad & Eurogenes :)
 
.Seems like some of them are pulling towards Sardinian, and Otzi lived close to that area, quite interesting thing.
 
Second part of Friuli/veneto isolates ....more mtDna ............see excel cahrt at bottom of link

http://www.plosone.org/article/info:doi/10.1371/journal.pone.0056371

interesting comments from DnaTribes for same area
For instance, the Ostrogothic confederations of Ermanaric and Theodoric included Finns, Slavs, Heruli, Alans,

Huns, and Sarmatians. These tribal confederations (unlike territorial nation-states) joined multiple populations

during this period of change that reshaped European civilization.

19
The Veneti might have been involved in importing steppe-Urartian horse breeds from the Pannonian Sigynnians

(possibly related to Iron Age Scythians). See Europe Before History by Kristiansen and Larsson, pp. 226-227
 
Second part of Friuli/veneto isolates ....more mtDna ............see excel cahrt at bottom of link

http://www.plosone.org/article/info:doi/10.1371/journal.pone.0056371

interesting comments from DnaTribes for same area
For instance, the Ostrogothic confederations of Ermanaric and Theodoric included Finns, Slavs, Heruli, Alans,

Huns, and Sarmatians. These tribal confederations (unlike territorial nation-states) joined multiple populations

during this period of change that reshaped European civilization.

19
The Veneti might have been involved in importing steppe-Urartian horse breeds from the Pannonian Sigynnians

(possibly related to Iron Age Scythians). See Europe Before History by Kristiansen and Larsson, pp. 226-227

The Mtdna breakdown combined as per link (as per spreadsheet ( attached )) for these Veneto and friuli

K134
H521
U517
U415
H*13
T212
H110
J18
T18
U27
HV05
H24
H64
N14
H33
H43
H203
W3
H112
H32
U12
V2
H81
I51
R21
X1




The Ydna data is below from same site, but only problem is markers where short in number to test
R1b20
E1b1b16
R1a13
I2b8
I16
G2c4
J2b4
G2a3
I2a2
T11
 
Great find Sile!
Should have mentioned that those isolate communities are all German (Bavarian) isolates;
The only thing that strikes me is the 27.0% [13/48] U5 in Sauris and the 43.3% [25/59] K1 in Sappada;
 
Thanks for the info, Sile.

The Y-DNA sample size is small (n=77), but it is nevertheless surprising to find nearly 21% of E1b1b and 5.2% of Levantine G2c among a population that otherwise looks quite Bavarian, Swiss German or Tyrolian (26% of R1b, 16.9% of R1a, 10.4% of I2b, 7.8% of I1). Like in the Harz mountains of central Germany, R1b is fairly low compared to R1a and especially I2b.

The way I see it is that the high E1b1b, the G2c and perhaps half of the G2a, J2b and T1 could be a remnant of Neolithic farmers. If we cut that out, we get approximately 38% of R1b, 24.5% of R1a, 15% of I2b and 11.5% of I1. This gets much closer the frequencies observed in East Germany, especially around the Harz. If the Alans, Sarmatians and Slavs also settled in the region alongside Goths it would easily explain the high frequency of R1a. The high I2b was probably inherited from the Mesolithic population who survived better in mountainous areas, like in other parts of the Alps and in the Harz.


The four locations for the mtDNA samples are too tiny to be looked at separately. Altogether (n=193) the percentage of K1 (17.6%) remains impressive.
 
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@ Sile

I think you have a false Y-DNA assessment;
Its not 77 samples its 88 samples;

81 samples are clearly defined:
21 R1b
14 R1a
24 E1b1b
7 I1
7 I2b1
2 G2a
6 J2b

the other 7 samples are not conclusive due to the few markers;
but the samples you claim to be G2c can equally be I1 and more likely so;

Overall its crazy how these three close proximity Alpine towns have their very own Y-DNA Hgs and epicenters which the other town is lacking and vice-versa;
Sappada E1b1b (prob. all E-V13) Sauris I2b1 and Timau R1a;

mtDNA Hg's on the other hand are clearly presented in the study at File S1
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0056371
 
Yes; I've also noticed that extreme northeastern italy has a particularly high frequency of mtdna K females; somewhere near 20-25%. The Veneto/ Friuli-Venezia-Giulia regions bordering Slovenia in particular have unnaturally inflated frequencies when comparing to the rest of the italian peninsula.
 
Just saw the following December 2, 2013 study by the same group...haven't yet gotten around to reading it...
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081704

Just as i thought
All (Every Single One) of the E1b1b in Sappada is E-V13;

Coia et al 2013 - File S1
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081704

Combining the 63.1% E-V13 with the 43.3% K1 = Neolithic hotspot;

Sauris I2 being all I2-M223 and the R1b in the Alps being of-course majority U152 (S28/S139) ;
And not a single G2c - as expected;
No surprises;
 
@ Sile

I think you have a false Y-DNA assessment;
Its not 77 samples its 88 samples;

81 samples are clearly defined:
21 R1b
14 R1a
24 E1b1b
7 I1
7 I2b1
2 G2a
6 J2b

the other 7 samples are not conclusive due to the few markers;
but the samples you claim to be G2c can equally be I1 and more likely so;

Overall its crazy how these three close proximity Alpine towns have their very own Y-DNA Hgs and epicenters which the other town is lacking and vice-versa;
Sappada E1b1b (prob. all E-V13) Sauris I2b1 and Timau R1a;

mtDNA Hg's on the other hand are clearly presented in the study at File S1
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0056371

thanks

I noted that the Ydna had not enough markers to actually tell ( i used athey and ypredictor as best as i could) ..............what did you use.

Did I miss a sheet?
 
Yes; I've also noticed that extreme northeastern italy has a particularly high frequency of mtdna K females; somewhere near 20-25%. The Veneto/ Friuli-Venezia-Giulia regions bordering Slovenia in particular have unnaturally inflated frequencies when comparing to the rest of the italian peninsula.

The border of the 3 towns is with Austria and not slovenia. In Italy its noted as ladini and carnico persone ( ladins and carni people)
 
Just as i thought
All (Every Single One) of the E1b1b in Sappada is E-V13;

Coia et al 2013 - File S1
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081704

Combining the 63.1% E-V13 with the 43.3% K1 = Neolithic hotspot;

Sauris I2 being all I2-M223 and the R1b in the Alps being of-course majority U152 (S28/S139) ;
And not a single G2c - as expected;
No surprises;

Thanks for link ..................

From your link I see Primiero ........I have documented ancestors from Siror which is part of Primiero ( a frazioni ie suburb ) on your link . ........When I was in Italy that area spoke 100% venetian.

In regards to your neolithic hotspot ..........clearly they did not come by sea and most people say about K
 
I meant the Friuli-Venezia-Giulia region in general but good comment! : )
 
Thanks for link ..................

Dont mention it;

From your link I see Primiero ........I have documented ancestors from Siror which is part of Primiero ( a frazioni ie suburb ) on your link . ........When I was in Italy that area spoke 100% venetian.

Sounds fantastic;

Adige-valley [56 samples] is Rovereto and Trento which is the Venetian part of Welsch Tyrol;

Fiemme-valley [41 samples] is Venetian part of Welsch Tyrol;

Primiero-valley [41 samples] is Venetian part of Welsch Tyrol;

Fersina-valley [25 samples] is the German (Fersental) part of Welsch Tyrol;

Cimbrians (Luserna/Lissinia) [total 49 samples] is the German isolates of Welsch Tyrol;

Giudicarie-valley [51 samples] is the Lombard part of Welsch Tyrol;

Non-valley [48 samples] is Lombard/Ladiner part of Welsch Tyrol;

Sole-valley [66 samples] is Lombard/Ladiner part of Welsch Tyrol;

Badia/Fassa/Gardena [total 142 samples] all Ladiner valleys of South & Welsch Tyrol;

Timau/Sappada/Sauris [91 samples] all German isolate valleys in the Karnian Alps;


Ladiners are heavy in R1b-U152 L2+
23.9% of the 142 samples are L2+ alone (U152 total = 26.0% 142 samples)
37 samples are R1b-U152 with 34 L2+ & 3 U152* (91.8% of all U152 in Ladiners is L2)

Ladiners in Gardena are also heavy in R1b-L21;
 
Dont mention it;



Sounds fantastic;

Adidge-valley [56 samples] is Rovereto and Trento which is the Venetian part of Welsch Tyrol;

Fiemme-valley [41 samples] is Venetian part of Welsch Tyrol;

Primiero-valley [41 samples] is Venetian part of Welsch Tyrol;

Fersina-valley [25 samples] is the German (Fersental) part of Welsch Tyrol;

Cimbrians (Luserna/Lissinia) [total 49 samples] is the German isolates of Welsch Tyrol;

Giudicarie-valley [51 samples] is the Lombard part of Welsch Tyrol;

Non-valley [48 samples] is Lombard/Ladiner part of Welsch Tyrol;

Sole-valley [66 samples] is Lombard/Ladiner part of Welsch Tyrol;

Badia/Fassa/Gardena [total 142 samples] all Ladiner valleys of South & Welsch Tyrol;

Timau/Sappada/Sauris [91 samples] all German isolate valleys in the Karnian Alps;


Ladiners are heavy in R1b-U152 L2+
23.9% of the 142 samples are L2+ alone (U152 total = 26.0% 142 samples)
37 samples are R1b-U152 with 34 L2+ & 3 U152* (91.8% of all U152 in Ladiners is L2)

Ladiners in Gardena are also heavy in R1b-L21;

What is Welsch_tyrol ?

The article states
The average genetic distances from other populations (Fst=0.097; see Table S6) is less than one third compared to Luserna, while HD is close to the highest values of our dataset (0.978±0.019; Table S6). The prevalent haplogroup, R1b-M269*, accounts for only one third of the total, the rest represented by different lineages (G-M201, I1-M253, M410-J2A and K-M9), which are associated with twenty-three different surnames

I see G, I1 and K stated for ydna.

Ladins are ancient raetic and carni people that learnt the Latin language from the Romans
 
What is Welsch_tyrol ?

Welsch Tyrol is Welschtirol;
Welsch means Romanic and Tyrol is the historical Alpine region of the County Tyrol + Bishopric Brixen & Trent

So it means the Romanic part of Tyrol i.e. Romanic Tyrol;

Historical Welschtirol corresponds with what the Italian bureaucracy now calls Provincia di Trento/Trentino;

images
Tirolkarte.jpg


1350057397_D-5618-marling-tiroler-platzl.jpg


Historical Tyrol = NordTirol, SüdTirol, OstTirol, WelschTirol, Ladin-valleys and Vorarlberg;
im shocked that you have no clue about it;

The article states
The average genetic distances from other populations (Fst=0.097; see Table S6) is less than one third compared to Luserna, while HD is close to the highest values of our dataset (0.978±0.019; Table S6). The prevalent haplogroup, R1b-M269*, accounts for only one third of the total, the rest represented by different lineages (G-M201, I1-M253, M410-J2A and K-M9), which are associated with twenty-three different surnames

from the same passage of the article;
Luserna is genetically very distant from all the other Alpine populations (average Fst=0.328; see Table S6) and shows a strikingly low intra-population diversity (0.483±0.119). Paternal lineages are represented mostly by the R1b-M269* (frequency of 84%), with six different STR haplotypes associated with only one founder surname......Your text......Luserna was founded by few families which moved from Lavarone, the first known Cimbrian settlement in the territory of Trentino [44]. This could have led to a strong founder effect in this community, a hypothesis supported by a previous study of mtDNA polymorphisms 40]. Moreover, Luserna is located on a high plateau (1,333 m a.s.l.) and is quite isolated from the surrounding areas.

The founder surname in Luserna is Nicolussi;
Almost all are called by this surname and its the most common Cimbrian surname;
Incest in remote Alpine communities is and always was a reality;

I see G, I1 and K stated for ydna.

Their amongst it;
Especially K-M9 in Primiero-valley and I1 in Lissinia;
And take a look at File S1 for all the Hg's listed;

Ladins are ancient raetic and carni people that learnt the Latin language from the Romans

Doesnt tell me anything;
Because Raeti are not a Homogenous tribe but an endonym for a host of tribes;
Keeping in mind that even Indo-European Venetic was amongst the Raeti and many Raeti were also described as Ligurian;
 

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