U152 in Italy – Boattini et al. (2013)

By Richard Rocca

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.

U152_Only_Map

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.

Population Samples L2 as %
of U152
Study
Ukraine 43 100.0% Martinez-Cruz (2012)[7]
Hungary 192 85.7% Martinez-Cruz (2012)[7]
Great Britain 48 75.0% 1000 Genomes (2010)[8]
Brabant (Belgium/Netherlands) 948 67.3% Larmuseau (2013)[9]
Poland 643 66.7% Rebala (2012)[10]
Germany 349 58.6% Rebala (2012)[10]
Iberia 51 50.0% 1000 Genomes (2010)[8]
Italy – Peninsula 661 39.2% Boattini (2013)[1]
Italy – Sardinia 82 25.0% Boattini (2013)[1]
Italy – Sicily 141 20.0% Boattini (2013)[1]
Bugaria 100 33.3% Martinez-Cruz (2012)[7]
Slovakia 164 20.0% Rebala (2012)[10]
Table 2 – L2 as a percentage of U152

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).

Boattini_sPCA

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] 

Copper_Age_Dental_Traits_v002

Figure 2 – Dental traits of Copper Age Italian Populations

Copper_Age_Skulls_by_Region

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:

1. Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, et al. (2013) Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata. PLoS ONE 8(5): e65441. doi:10.1371/journal.pone.0065441

2. Myres NM, Rootsi S, Lin AA, Järve M, King RJ, Kutuev I, Cabrera V M, et al. (2011). A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe European Journal of Human Genetics, 19(1), 95–101.

3. Cruciani, F., Trombetta, B., Antonelli, C., Pascone, R., Valesini, G., Scalzi, V., Vona, G., Melegh, B., Zagradisnik, B., Assum, G., Efremov, G.D., Sellitto, D., Scozzari, R. (2010). Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106, and U152, Forensic Sci. Int. Genet.(2010), doi:10.1016/j.fsigen.2010.07.006

4. Busby, G. B. J., Brisighelli, F., Sánchez-Diz, P., Ramos-Luis, E., Martinez-Cadenas, C., Thomas, M. G., Bradley, D. G., et al. (2011). The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269 Proceedings of the Royal Society B: Biological Sciences.

5. Family Tree DNA. R-U152 and Subclades Research Project. Retrieved June 28, 2013, from http://www.familytreedna.com/public/R1b-U152/

6. Rocca, R.A., Magoon, G., Reynolds, D.F., Krahn, T., Tilroe, V.O., Boots, P.M.O., Grierson, A.J. Discovery of Western European R1b1a2 Y chromosome variants in 1000 Genomes project data: an online community approach, PLoS ONE 7 (2012) e41634.

7. Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, et al. (2012) Y-Chromosome Analysis in Individuals Bearing the Basarab Name of the First Dynasty of Wallachian Kings. PLoS ONE 7(7): e41803. doi:10.1371/journal.pone.0041803

8. The 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061–1073.

9. Larmuseau MHD, et al. (2013) Increasing phylogenetic resolution still informative for Y chromosomal studies on West-European populations, Forensic Sci. Int. Genet. (2013), http://dx.doi.org/10.1016/j.fsigen.2013.04.002]

10. Rebala K, Martinez-Cruz B, Tonjes A, Kovacs P, Stumvoll M, et al. (2012) Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. European Journal of Human Genetics advance online publication, 12 September 2012; doi:10.1038/ejhg.2012.190

11. Vargiu R, Cucina A, Coppa A. (2009) Italian populations during the Copper Age: assessment of biological affinities through morphological dental traits. Human Biology, 2009 Aug;81(4):479-93. doi: 10.3378/027.081.0406.

12. Rubini M, Zaio P, Mogliazza S (2011) L’Eneolitico nell’Italia centro-meridionale. Il fenomeno antropologico della facies del Gaudo. Atti della XLIII Riunione Scientifica: L’Eta del Rame in Italia. Istituto Italiano di Preistoria e Protostoria, pp. 409-414

13. Menk R (1979). Le phénomène campaniforme: structures biologiques et intégration historique. In: Menk R, Gallay A, editors. Anthropologie et archéologie: le cas des premiers âges des Métaux. Archs suisses d’anthrop gén (Genève) 43:259-284.

14. Lee E J, et al. (2012). Emerging genetic patterns of the European neolithic: Perspectives from a late neolithic bell beaker burial site in Germany, American Journal of Physical Anthropology, 148 (4), 571–579.

15. Nicolis F (2001) Some observations on the cultural setting of the Bell Beakers of northern Italy. In: Nicolis F (ed.) Bell Beakers Today. Pottery, people, culture and symbols in prehistoric Europe. International Colloquium Riva del Garda (Trento, Italy), 11–16 May 1998 (Trento 2001). pp 207–227.

16. Lemercier O, Leonini V, Tramoni P, Furestier R (2007). Campaniformes insulaires et continentaux de France et d’Italie méditerranéennes: Relations et échanges entre Corse, Sardaigne, Toscane et Midi français dans la seconde moitié du troisième millénaire avant notre ère, in: D’Anna A, Cesari J, Ogel L,Vaquer J (Dir.) – Corse et Sardaigne préhistoriques : Relations et échanges dans le contexte méditerranéen, Actes du 128e congrès national des sociétés historiques et scientifiques, Bastia, 2003, Coédition Association des chercheurs en sciences humaines – domaine corse / CTHS.

17. Barfield L (1971), Northern Italy Before Rome. Ancient Peoples and Places, Vol. 76. London: Thames and Hudson, 1971. pp.74-75

18. Peroni R (2004) L’ Italia alle soglie della storia. Biblioteca Universale Laterza, Bari-Roma, 1996, p.60

19. Marzatico F, Tecchiati U (2001) The Bronze Age in trentino and Alto Adige/SudTirol. Preistoria Alpina v.34, Museo Tridentino di Scienze Naturali, 1998. p.28

20. Marzatico F, (2004) 150 years of Lake-Dwelling Research in Northern Italy. In: Menotti F (ed.) Living on the Lake in Prehistoric Europe: 150 Years of Lake-Dwelling Research. London: Routledge, 2004.  pp.89-91

21. Brotherton P, Haak W, Templeton J, et al. (2013) Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications, Article number: 1764 doi:10.1038/ncomms2656. Received 20 September 2012 Accepted 27 February 2013 Published 23 April 2013

4 thoughts on “U152 in Italy – Boattini et al. (2013)

  1. Ashton says:

    So the most current and up to date research finds that the majority of modern Italian DNA structure was established between the Paleolithic and Bronze Age, correct? Therefore, this would indicate that most of Italy’s DNA pre-dates either the Phoenician or Greek contacts, right?

  2. havelin says:

    Kind of completely DESTROYS the eupedia / allistair moffat fables, presumptions and long-winded assertions that English U-152 is attributable to “ROMANS” or Italian settlers, since the vast majority are L2 yet Italian pennisula L2 is among the lowest of any european population.

    Couple that with the L2 dominancee among non-italic impacted populations like Ukraine and Poland who are in the heartland of the original Continental Celtic tribes, and its a fairly conclusive refutation to the opportunists who tried to label English and Brit Isles L2-heavy U-152 as being of “Roman” or Italic origin.

    Truly devastating to that position actually, although I dont expect the folks whose claims have been overturned to concede the point!

  3. havelin says:

    There is no possible way to establish that. Its a opinion. Everyone has one.
    Given Sardinian results + the Penninsular Hg G results + ‘Otzi’, it looks primarily to me that AMONG the earliest settlers of the Italian Pennisula – if not the earliest – are Hg G males without any possible argument.

    Everything else is impacted by millenia of populations movements that were in some cases forced, in some cases famine related or voluntary, and affected by a scale of enslavement of vast tribes probably never before seen in history from such varied european populations transported to what is modern Italy.

    The population centers of Roman Italy were described as populated by every tribe the Romans had conquered traded or allied with.

    The one truly valuable finding is that “Roman” U-152 is significantly lower than other euro populations in L2, and this is fairly devastating to a lot of theories that relate to Brit Isles results from sources who attempted to pass this off as a legacy of roman settlers or legions.

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