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Thread: U152 in Sardinia - Francalacci et al. 2013

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    Senior Member Richard A. Rocca's Avatar
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    U152 in Sardinia - Francalacci et al. 2013

    The paper that contributed the 'PF' prefixed SNPs to the Geno 2.0 product has been published:

    Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny
    http://www.sciencemag.org/content/341/6145/565.abstract

    While the study is focused primarily on founders for I2a1 and Otzi's haplogoup G, there is some important information in the supplementary material for U152. Here is the information I was able to pull together:



    The headline grabber here is the real dominance of Z192 in Sardinia where it makes up 58.6% of all U152 lineages. Z192 had been found in 1000 Genomes samples from Tuscany and Mexico but in only one commercial sample thus far:

    Kit no. N8217 (FTDNA Kennedy Project), Michael Kennedy, b.c. 1817, Co. Kerry and d. 1862

    At the opposite end of the spectrum we have L2 and Z36 which make up only small percentages of both U152 and Sardinian males overall. It is difficult to see either in the context of large migrations from the peninsula. Z56 is slightly more frequent than L2 and it's Z144/Z145 subclade makes up the majority of Z56. Sardinian U152, where a single subclade is so dominant (Z192), contrasts with the completely diverse scenario in Tuscany, where no single subclade is found in dominant numbers over another. U152 frequency in Tuscany is also several times greater than in Sardinia based on 1000 Genomes data and that of the recent Boattini et al. study (see here: http://www.r1b.org/?page_id=242).
    Paternal: R1b-U152+ L2+ FGC10516+ FGC10536+ FGC10543+, Pietro Rocca, b. 1559, Agira, Sicily, Italy
    Maternal: Haplogroup H4a1, Maria Coto, b. ~1864, Asturias, Spain
    Mother's Paternal: J1c3d-YSC234/Z2329+ (YSC80-), Gerardo Caprio, b. 1879, Caposele, Avellino, Campania, Italy
    Father's Maternal: Haplogroup T2, Francisca Santa Cruz, b.1916, Garganchon, Burgos, Spain

    Avatar: Raetian bronze votive, Fritzens-Sanzeno Culture VI-V c. BC, Trentino-Alto Adige/Südtirol, Italy

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    Richard there were only 1200 Sardinians tested, the 1204 comes from the fact that they added 1-French Basque and 1-Northern Italian belonging to I2a1a, and 1-Tuscan, and 1-Corsican belonging to G2a. So when doing the percentages for Sardinia, it should be out of 1200, not 1204 (Not that it makes any difference, but well, my god forsaken OCD makes point that out )

    See here:

    Quote Originally Posted by Francalacci.et.al.2013

    To estimate points of divergence between Sardinian and continental clades, we sequenced two samples from the Basque Country and northern Italy, belonging to haplogroup I, and two, from Tuscany and Corsica, belonging to haplogroup G. We also analyzed the sequence of the so-called Iceman Ötzi (9), together with 133 publicly available European sequences from the 1000 Genomes Project database and those SNPs from the International Society of Genetic Genealogy (ISOGG) database detected outside Sardinia.

    The Basque individual separates from the basal position of the I2a1a branch that encompasses 11 Sardinian individuals. The northern Italian sample, instead, most likely reflecting the last step of I2a1 lineages before their arrival in Sardinia, is at the basal point of most of the remaining I2a1a samples (Fig. 2). Considering two other basal lineages encompassing only Sardinian samples, we can infer that when the I2a1a sub-haplogroup entered Sardinia, it had already differentiated into four founder lineages that then accumulated private Sardinian variability. Two other founder clades show similar divergence after entry into the island: one belonging to haplogroup R1b1c (xV35) (whose differentiation is identified contrasting the Sardinian data with the ISOGG and 1000 Genome data), and the other to haplogroup G2a2b-L166 (identified by divergence from a sequenced Corsican sample).

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    Thank you Richard ..
    very interesting.
    good work..

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    Senior Member Richard A. Rocca's Avatar
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    Quote Originally Posted by jeanL View Post
    Richard there were only 1200 Sardinians tested, the 1204 comes from the fact that they added 1-French Basque and 1-Northern Italian belonging to I2a1a, and 1-Tuscan, and 1-Corsican belonging to G2a. So when doing the percentages for Sardinia, it should be out of 1200, not 1204 (Not that it makes any difference, but well, my god forsaken OCD makes point that out )

    See here:
    Every bit of detail counts, so thanks for pointing that out. I corrected my table above.
    Paternal: R1b-U152+ L2+ FGC10516+ FGC10536+ FGC10543+, Pietro Rocca, b. 1559, Agira, Sicily, Italy
    Maternal: Haplogroup H4a1, Maria Coto, b. ~1864, Asturias, Spain
    Mother's Paternal: J1c3d-YSC234/Z2329+ (YSC80-), Gerardo Caprio, b. 1879, Caposele, Avellino, Campania, Italy
    Father's Maternal: Haplogroup T2, Francisca Santa Cruz, b.1916, Garganchon, Burgos, Spain

    Avatar: Raetian bronze votive, Fritzens-Sanzeno Culture VI-V c. BC, Trentino-Alto Adige/Südtirol, Italy

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    Senior Member Richard A. Rocca's Avatar
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    Quote Originally Posted by Bolgeris View Post
    Thank you Richard ..
    very interesting.
    good work..
    Giuseppe, unfortunately for me there were no L2+ Z367- Z49- samples

    Maybe when we get some samples from the peninsula it will help me out.
    Paternal: R1b-U152+ L2+ FGC10516+ FGC10536+ FGC10543+, Pietro Rocca, b. 1559, Agira, Sicily, Italy
    Maternal: Haplogroup H4a1, Maria Coto, b. ~1864, Asturias, Spain
    Mother's Paternal: J1c3d-YSC234/Z2329+ (YSC80-), Gerardo Caprio, b. 1879, Caposele, Avellino, Campania, Italy
    Father's Maternal: Haplogroup T2, Francisca Santa Cruz, b.1916, Garganchon, Burgos, Spain

    Avatar: Raetian bronze votive, Fritzens-Sanzeno Culture VI-V c. BC, Trentino-Alto Adige/Südtirol, Italy

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    Senior Member Solothurn's Avatar
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    Thanks Rich

    In the 'U152+ L2- Z36- Z56- Z192-' group, there are:

    23407934 C>G 23119461 G>A


    Are these mutations 'new'?
    Last edited by Solothurn; 08-04-2013 at 09:58 PM.

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    Quote Originally Posted by Solothurn View Post
    Thanks Rich

    In the 'U152+ L2- Z36- Z56- Z192-' group, there are:

    23407934 C>G 23119461 G>A


    Are these mutations 'new'?
    23407934 is "sort of" new (a.k.a. CTS11993) in that it had previously been found in a single 1000 Genomes U152* sample from Tuscany. CTS11993 is not available for test via Geno 2.0 nor FTDNA.

    23119461 is new.
    Paternal: R1b-U152+ L2+ FGC10516+ FGC10536+ FGC10543+, Pietro Rocca, b. 1559, Agira, Sicily, Italy
    Maternal: Haplogroup H4a1, Maria Coto, b. ~1864, Asturias, Spain
    Mother's Paternal: J1c3d-YSC234/Z2329+ (YSC80-), Gerardo Caprio, b. 1879, Caposele, Avellino, Campania, Italy
    Father's Maternal: Haplogroup T2, Francisca Santa Cruz, b.1916, Garganchon, Burgos, Spain

    Avatar: Raetian bronze votive, Fritzens-Sanzeno Culture VI-V c. BC, Trentino-Alto Adige/Südtirol, Italy

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    Senior Member alan's Avatar
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    Rich, how does this new data sit with your archaeological interpretations? I just dont have the subclade knowledge to think it through.

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    Senior Member Solothurn's Avatar
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    Thanks Rich

    So do you think they ever will become available for us to test?


    Quote Originally Posted by Richard A. Rocca View Post
    23407934 is "sort of" new (a.k.a. CTS11993) in that it had previously been found in a single 1000 Genomes U152* sample from Tuscany. CTS11993 is not available for test via Geno 2.0 nor FTDNA.

    23119461 is new.

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    Senior Member Richard A. Rocca's Avatar
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    Quote Originally Posted by alan View Post
    Rich, how does this new data sit with your archaeological interpretations? I just dont have the subclade knowledge to think it through.
    This much we know:

    1. Sardinia is heavily concentrated with Bell Beaker material when compared to most of peninsular Italy.
    2. Sardinia also has a heavy concentration of statue-menhirs. They are very similar to those found in Liguria and the Alps.
    3. Archaic Sardinian was a non-IE language, and based on place names, has recently been linked to Basque. It is difficult to not see an I2a1-M26 connection here.
    4. Sardinia has the lowest R1b frequency in Western Europe, but most of it is P312 instead of Z2103/Z2105.

    So my assumptions are:

    1. DF27 may have been brought by small amounts of Bell Beaker people from Southern France via Tuscany.
    2. While the traditions of Bell Beaker caught on, it does not seem like their genetics nor their presumed-IE language did.
    3. Z192 might be a founder affect carried over from a U152* male somewhere close to Sardinia/Tuscany during the Copper Age or even with Bell Beaker itself.
    4. The absence of major continental U152 sub-lineages like L2 and Z36 points to their trickling in after Bell Beakers. I had mentioned previously that L2 might be related in Italy to the Early Bronze Age Polada Culture which has a heavy Central European influence. A small amount of Polada Culture material has been found in Sardinia.
    Paternal: R1b-U152+ L2+ FGC10516+ FGC10536+ FGC10543+, Pietro Rocca, b. 1559, Agira, Sicily, Italy
    Maternal: Haplogroup H4a1, Maria Coto, b. ~1864, Asturias, Spain
    Mother's Paternal: J1c3d-YSC234/Z2329+ (YSC80-), Gerardo Caprio, b. 1879, Caposele, Avellino, Campania, Italy
    Father's Maternal: Haplogroup T2, Francisca Santa Cruz, b.1916, Garganchon, Burgos, Spain

    Avatar: Raetian bronze votive, Fritzens-Sanzeno Culture VI-V c. BC, Trentino-Alto Adige/Südtirol, Italy

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