October 27, 2009

mtDNA in southern Italy

Ann Hum Biol. 2009 Oct 25. [Epub ahead of print]

Human mitochondrial DNA variation in Southern Italy

Ottoni C, Martinez-Labarga C, Vitelli L, Scano G, Fabrini E, Contini I, Biondi G, Rickards O.

Background: Since prehistoric times Southern Italy has been a cultural crossroads of the Mediterranean basin. Genetic data on the peoples of Basilicata and Calabria are scarce and, particularly, no records on mtDNA variability have been published. Aim: In this study mtDNA haplotypes of populations from Basilicata, Calabria and Sicily are compared with those of other Italian and Mediterranean populations, so as to investigate their genetic relationships. Subjects and methods: A total of 341 individuals was analysed for mtDNA in order to provide their classification into haplogroups. Multivariate analysis was used to compare the studied populations with other Mediterranean samples; median-joining network analysis was applied to observe the relationship between the major lineages of the Southern Italians. Results: The haplogroup distribution in the Southern Italian samples falls within the typical pattern of mtDNA variability of Western Eurasia. The comparison with other Mediterranean countries showed a substantial homogeneity of the area, which is probably related to the historic contact through the Mediterranean Sea. Conclusion: The mtDNA analysis demonstrated that Southern Italy displays a typical pattern of Mediterranean basin variability, even though it appears plausible that Southern Italy was less affected by the effects of the Late Glacial Maximum, which reduced genetic diversity in Europe.



  1. We must read the paper, but what does it mean this? That Italy has very ancient mtDNA dated from before LGM?
    My daughter, from a Sicilian mother, is K1c1*. They say it is a Jewish mitochondrial, and actually, though she is "Italian", she has some background in Eastern Europe (she has nothing of Middle Eastern, like other Ashkenazi Jews), between Poland and Ukraine, and this makes us think really to a Jewish mitochondrial, migrated through Italy to East Europe and become Eastern European in some part of the autosomal.
    Or must we think that K1c1* is, like my K1a1b1, ancient Italian, before LGM?

  2. I suspect that Gioiello is being ironic.
    Or maybe he and his daughter are Jewish.
    Or what are you trying to say, Gioiello?
    In any case, yes, there is a very good probability that genes radiated from Italy instead of that land being only the receptacle of recent African genes via Greece and Tunisia.
    Probably the only reason why Med people look white today.

  3. I wasn’t ironic: I am always trying for truth and you know that mtDNA K is a large part of Ashkenazi Jews and they are thinking I have Jewish ancestry, though I have Tuscan ancestors documented from at least 1 thousand years.
    But probably you are sarcastic affirming that Italians are Africans. Perhaps they will become if ships continue to arrive.

  4. African lineages are quite low in this study :
    Calabria :1/48 = 2%
    Sicily : 3/75 = 4%
    Basilicata : 2/92= 2.2%

    similar to what was found in Latium (3%) and Tuscany

  5. What do you mean for "African lineage"? Some YDNA A/B or mtDNA L?
    Or some YDNA E that perhaps is in Italy from thousands of years?

  6. yes mtdna L but I think there is a little mistake in their table with Calabria and Sicily (N are in fact respectively 95 and 154 and not 48 and 75) so % are less

    "The haplogroup distribution in the Basilicata, Calabria and Sicily samples fell within the
    typical pattern of mtDNA variability of Western Eurasia, with very little influence of Asian
    and African lineages. As described in other European samples (Richards et al. 2000;
    Achilli et al. 2004), sequences belonging to the super-haplogroup H were the most frequent
    (frequency range: 34–36%). Many haplogroups of extra-European origin were found in our
    samples: haplogroups M/M1, which are widespread in Eastern Africa and Eastern Eurasia
    (Quintana-Murci et al. 1999), were found in Calabria (1%) and Sicily (1%);

    haplogroups L1/L3e, which are typical of South-Saharan Africa (Salas et al. 2002) were found in Calabria (1%), Sicily (2%) and Basilicata (2%);

    haplogroup R was found in Basilicata (4%) and R0a
    in Calabria (1%) and Basilicata (2%). In particular, haplotype R-16278 matched with two
    HVS-I sequences from Turkey (Comas et al. 1996); haplogroup N1b, which is frequent in
    the Middle East, was present in Calabria (3%) and Sicily (2%); haplogroup U6a, typical of
    Northern Africa (Salas et al. 2002; Olivieri et al. 2006), was found in Sicily (1%) and
    Basilicata (1%). The presence of these lineages is probably due to Southern Italy’s central
    position in the Mediterranean basin, which facilitated the introduction of foreign lineages"

  7. I thank you for this extract, being a fee-payment paper. We should do a deep exam, as:
    1) R0a is very ancient in Italy: in Tuscany we have a R0a so ancient that it is different from every other in the world;
    2) N1b is so ancient in Italy that I have supposed it is in Italy from at least the Italian refugium of the Younger Dryas and probably the Near Eastern one can having come from here, specifically that diffused among Jews;
    3)also M/M1 can be very ancient too in Italy and we are discussing on another thread if African L3 is derived from an Eurasian M;
    4) then only a deep exam should answer if these haplogroups are of recent or ancient (very ancient) presence in Italy.

  8. Actually, I was agreeing with the Italian peninsula being a probable and logical genetic radiation center at some point in time. It is quite possible that the similarity (when there is any) of other Med populations to Europeans (Greeks, ME, N.Africans)is due mostly to this "radiation". Otherwise Greeks might be classified as balcanic Iraqis.
    As for Jews, I find it likely that they originated (linguistically and gentically) near the Red Sea or in Africa and then found their way north, absorbing a few genes along the way.
    I do not know if they appreciate their southern origin very much.

  9. Jews, the Ashkenazim and Sephardim, are mostly European. Their haplogroups are mostly derived from European converts. Too much is made of the Y chromosome J1, J2. These haplogroups originated in the Middle East, the other side of the Mediterranean Sea from Europe. many thousands of years ago. No big deal. All haplogroup families barring some recent subclades found in Europe have Asian origins barring the Haplogroup E which is African no matter where its descendants formed in North Africa, sub Saharan Africa, Middle East or Anatolia/SE Europe. What you have to remember is frequency of a haplogroup means nothing, genetic diversity is the key to origin point. Mitochrondrial haplogroup K in Jews is probably from the Italian "colony" of Jews, mostly Jewish converts, who formed in Italy then moved elsewhere in Europe. Mitochrondrial haplogroup U is so ancient that it probably occurred in Africa among the pre human hominids. Sort of the mitochrondrial equivalent of the Rhesus blood factor found in monkeys and humans.

    There is too much obsession about the supposed origins of various Europeans which none of you can prove no matter how many SNPs or haplogroups you check. All European and Asian mtDNA haplogroups stem from L3 which by my standards is African originated. M and N are just its daughters formed in the Middle East and in India. The important thing is when they formed, in the case of mtDNA U5a, Cheddar Man's haplogroup, it can only be dated to the start of the Holocene. Similarly NE Europe only became habitable for the Finns, Estonians and other bears of U5a 10 kya, so the haplogroup cannot have a long tenure in Europe. I am mtDNA V if you are interested.

  10. Ponto : "Mitochrondrial haplogroup K in Jews is probably from the Italian "colony" of Jews, mostly Jewish converts, who formed in Italy then moved elsewhere in Europe."

    ötzi the iceman, the 3,300 BC mummy found in a glacier at the fronteer between Italy and Austria was mtDNA hg K1.

  11. 5300 YBP isn't the time of origin of hg. K, but having found a K1*, different from the today ones, is indicative of a presence of it in Italy in that time. Until we'll find similar haplogroup elsewhere in that time or before we can think that Italy was its origin.


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