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Thread: New population isolates identified in the eastern Italian Alps

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    3 out of 3 members found this post helpful.

    Thumbs up New population isolates identified in the eastern Italian Alps

    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.




    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.




    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.



    Here is the full article:

    Nature : Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
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    Quote Originally Posted by Maciamo View Post
    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.




    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.




    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.



    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
    Father's Mtdna H95a1
    Grandfather Mtdna T2b24
    Great Grandfather Mtdna T1a1e
    GMother paternal side YDna R1b-S8172
    Mother's YDna R1a-Z282

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    Amazing! I'd like to see these samples in Dodecad & Eurogenes :)

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    .Seems like some of them are pulling towards Sardinian, and Otzi lived close to that area, quite interesting thing.

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    Second part of Friuli/veneto isolates ....more mtDna ............see excel cahrt at bottom of link

    http://www.plosone.org/article/info:...l.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
    có che un pòpoło no 'l defende pi ła só łéngua el xe prónto par èser s'ciavo

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    1 out of 1 members found this post helpful.
    Quote Originally Posted by Sile View Post
    Second part of Friuli/veneto isolates ....more mtDna ............see excel cahrt at bottom of link

    http://www.plosone.org/article/info:...l.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

    K1 34
    H5 21
    U5 17
    U4 15
    H* 13
    T2 12
    H1 10
    J1 8
    T1 8
    U2 7
    HV0 5
    H2 4
    H6 4
    N1 4
    H3 3
    H4 3
    H20 3
    W 3
    H11 2
    H3 2
    U1 2
    V 2
    H8 1
    I5 1
    R2 1
    X 1




    The Ydna data is below from same site, but only problem is markers where short in number to test
    R1b 20
    E1b1b 16
    R1a 13
    I2b 8
    I1 6
    G2c 4
    J2b 4
    G2a 3
    I2a 2
    T1 1

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    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;

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    1 out of 1 members found this post helpful.
    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.
    Last edited by Maciamo; 04-12-13 at 13:38.

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    1 out of 1 members found this post helpful.
    @ 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:...l.pone.0056371

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    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.

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    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%...l.pone.0081704

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    2 out of 2 members found this post helpful.
    Quote Originally Posted by Angela View Post
    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%...l.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%...l.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;

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    Quote Originally Posted by Nobody1 View Post
    R1b in the Alps being of-course largely (exclusevly) U152 ;
    No surprises;
    Except for Gardena-valley which is a good amount R1b-L21 = 24.4% (12/49);
    Thats surprising;

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    Quote Originally Posted by Nobody1 View Post
    @ 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:...l.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?

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    1 out of 1 members found this post helpful.
    Quote Originally Posted by adamo View Post
    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)

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    Quote Originally Posted by Nobody1 View Post
    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%...l.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

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    I meant the Friuli-Venezia-Giulia region in general but good comment! : )

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    Quote Originally Posted by Sile View Post
    Thanks for link ..................
    Dont mention it;

    Quote Originally Posted by Sile View Post
    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;

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    Quote Originally Posted by Nobody1 View Post
    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

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    Quote Originally Posted by Sile View Post
    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;





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

    Quote Originally Posted by Sile View Post
    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;

    Quote Originally Posted by Sile View Post
    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;

    Quote Originally Posted by Sile View Post
    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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    Quote Originally Posted by Nobody1 View Post
    Welsch Tyrol is Welschtirol;
    Welsch means Romanic and Tyrol is the historical Alpine region of the County Tyrol (Bishopric Brixen and Bishopric Trent);

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

    The Historical Welschtirol corresponds with what the Italians bureaucracy now calls Provincia di Trento or Trentino;





    Historical Tyrol = NordTirol, SüdTirol, OstTirol, WelschTirol, Ladin-valleys and Vorlarlberg;
    im shocked that you have no clue about it;
    Always heard it as trentino or rovereto in history especially Rovereto in venetian archives

    http://tigen.tirolensis.info/wiki/Ty...etic_structure
    Then again above site places it with south tyrol for genetics

    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;
    Incest in remote Alpine communities is and always was a reality;

    And take a look at File S1 for all the Hg's listed;



    Their amongst it;
    Especially K-M9 in Primiero-valley and I1 in Lissinia;
    ok, i will re-read

    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;
    Yes raetic, carni, venetic and nori where entwined in valleys, but the point is they must have been similar and only migration via the danube river area in the north would have introduced "foreign markers", like IMO the E marker

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    I've had a closer look at the Y-DNA data for each community, and found something potentially very interesting. The Cimbrians of Luserna are almost purely R1b (92%) apart from 2 T samples (8%). More importantly 21 of the 23 R1b samples were M269*. I know that the Cimbrian language is a dialect of Bavarian, and that those Cimbrians are thought to have arrived around the 11th-12th century. Nevertheless, nobody is sure of their origin, and if by any chance they could really be descended from the Cimmerians, like it was claimed for the ancient Cimbri of Denmark, then it would be quite amazing.

    The Cimmerians lived in the North Caucasus and Pontic Steppe from circa 1300 to 800 BCE, then were displaced by the Scythians. Numerous hypotheses have been made about their possible descendants, notably the Cimbri of Jutland and the Franks, via the Sicambri. As and Indo-European people from the Black Sea region the Cimmerians could be either R1b or R1a. I believe that there is a higher chance that the Cimmerians were R1a, since in my chronology most R1b had left the Pontic Steppe by 2000 BCE. But they might have been the last predominantly R1b tribe to leave after all. If that is the case and the Cimmerians descend from those R1b who did not invade the Balkans, then go up the Danube to Central Europe then Western Europe, they would not belong to typical European subclades, but to a much older branch like M269 or L23.

    The fact that we find a genetic isolate in the Alps whose name happens to be close to the Cimmerians and who belongs almost exclusively to R1b-M269 is an evidence in favour of this hypothesis (although a bit of a stretch).

    R1b-M269 or L23 has been found at a low frequency (1-5%) in all Germanic populations, and is also the main R1b variety among Slavic and Balkanic people. The question is why is it present at all in Germanic populations, if the Proto-Celto-Germanic R1b was L11 and that L11 expanded dramatically from a tiny male population. If M269/L23 lineages had been with them they should also have expanded as spectacularly. So there is a good chance that the two lineages didn't expand together. In that case a later absorption of M269 or L23 people (perhaps the Cimmerians) by Germanic people would explain the low but consistent level of M269/L23 among Germanic people. The presence of M269/L23 in Italy can be attributed to the Greeks and Etruscans, and its presence of among Celtic population would be attributed to both Roman and Germanic invasions.

    Unfortunately there is no mtDNA sample from Luserna.


    Those Alpine valleys really have mind-boggling diversity of haplogroups. Sappada is quite clearly an Neolithic time-capsule with 63% of E-V13, 10.5% of G2a and 8% of J2a, which is mirrored on the mtDNA side by 44% of K1 and 5% of N1.

    Timau is no less odd, with 56.5% of R1a, 30.5% of J2b, 13% of I1 and nothing else. Its maternal lineages have high levels of U2 (6.5%) and U4 (11%) that usually correspond to R1a.

    The Fassa Valley has remarkably high percentages of J1 (15%) and T (23.5%).

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    1 out of 1 members found this post helpful.
    I remember in the previous study of genetic isolates from Friul-Venezia Giula that some of them plotted with Basques, or even further away, that may have to do with being 80-90% R1b in some of these samples ??




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    0 out of 1 members found this post helpful.
    I'm surprised at how high the J2b and e-v13 frequencies are in the area; may there have been a Greek presence? The high R1a in Timau could be explained easily due to this region's proximity to parts of Austria and Slovenia.

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    Also the Fassa valley isn't too far from the Stilfs northern italy/Bavaria region where there is 23% hg T.

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