Mountain communities in Central Italy: A genetic insight

Sile

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Ethnic group
North Alpine Italian
Y-DNA haplogroup
T1a2 -Z19945..Jura
mtDNA haplogroup
H95a1 ..Pannoni
I think Maciano has already seen this paper , but not the others

https://www.researchgate.net/public...ommunities_in_Central_Italy_A_genetic_insight

Objectives Analysis of human genetic variation in mountain communities can shed light on the peopling of mountainous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstructing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy.Methods The communities were selected for their geographic isolation, attested biodemographic stability, and documented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable segments (HVS-I and HVS-II) of the mtDNA D-loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y-chromosome SNPs in 237 male individuals.ResultsFor both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool.Conclusions The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwithstanding this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe-wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence. Am. J. Hum. Biol., 2015. © 2015 Wiley Periodicals, Inc.

Paper is 18 months old
 
Thank you Sile, I was not aware about this paper. There are some high percentages for T, G2a and I1.
 
R1b 24% - typical for Italy.

J2a and G2a more than 10%, that's pretty interesting (Etruscans?)


E1b (17-18%), high percent even for Italy.

6% of J2b2 M241 - connection with Balkans during the history?

I1 13%

I2a Dinaric lower than 1%, same as R1a (1.27%).

T is quite common for Central Italy according to Eupedia maps, 5,49%.


There are few G1, J1, Q.
 
Could it be that some also came with Bulgar/Avar horsemen? They settled in Molise in the 7th century and was reported by Paul the Deacon in the 8th century and he said "[FONT=&quot]although they speak Latin, they have not forgotten the use of their own language." M[/FONT]y family is from Molise near Bojano they have found in early medieval graves several warriors buried with their horses alongside their Lombard hosts.
 
There is a broad range of R1b percentages in Italy, with many areas in the north and Tuscany having 50% and over so I don't see how 24% can be "typical for Italy".
http://www.eupedia.com/europe/Haplogroup_R1b_Y-DNA.shtml

Also, for R1b as for J2a and the other uniparental markers, there is wide variation in the frequencies in these villages, typical of highly drifted areas, so averages are not very informative.

TABLE 2. The number of individuals and haplogroup frequencies in percentage (in brackets) of Y chromosome in the samples from the seven villages
Ydna of mountain communities in Central Italy.jpg

Click on the above to enlarge.

The chart illustrates the difficulties with these kinds of studies. It's of course very interesting to get data on such isolated communities. Given that my father's family was located there for six hundred or more years, I certainly wish that Cavalli-Sforza would release all the samples he took in the northern Emilian Apennines.

That doesn't mean that uniparental markers from such isolated communities are necessarily very informative about even the uniparental modern distribution in the general area. Interpretation in terms of the genetic past is also problematical.

From the paper:
""Intrapopulation genetic indices based on Y chromosome profiles are reported in Table 4. The Y chromosome gene diversity in these seven villages, because of their relative isolation, is lower than that found in other Italian and Mediterranean samples."

The other major problem with this paper, the lack of subclade resolution, is rather inexplicable in a paper that's only about eighteen months old. What kind of E1b1b is present here? What kind of G2a is present? What kind of R1b? The migrations of various subclades have been tied to very different areas and time periods. Without this kind of resolution I'm perplexed as to how anyone is supposed to tie these samples to any particular ancient group.


For example, the area in question, which is between Lazio and the Abruzzi, has Neolithic roots, and Italic roots as well.

". Indeed, archeological evidence indicates that the region has been inhabited since at least the Neolithic period, as attested by human remains found in the Mora Cavorso cave near Jenne and dating to 6,405 6 35 BP (L3504), 1r calibrated 5,472–5,314 BC (Rolfo et al., 2009). During the Pre-Roman period, the area between Latium and Abruzzi was inhabited by ancient Italic peoples belonging to Osco-Umbrian or Sabellian populations."

It would be tempting to think perhaps this indicates there was a lot of E1b1b in Neolithic Italian populations, but what if it's E-M81? Even if we assume the R1b is from the Italics, and not from other men from other migrations who moved up into these areas, what kind of R1b is it?

The mtDna, although mostly unremarkable, does have some higher concentrations of U2d, ROa, and HV, but again it's extremely variable. U2d is present in only one village. Most of the HV is from one village. ROa, at least, is in three villages. This is founder effect writ large. Plus, without whole mtDna analysis, the type that was done for mtDna U6, for example, how are we supposed to discern when it arrived and precisely from where? As I pointed out on another thread, ROa has been in Europe for a long time, as has HV.

Isolated areas like mountain and island villages throw up lots of "rare" mtDna. I don't know how valuable it is for drawing huge generalities.

There isn't much on U2d. This old paper links it to "medieval migrations of nomadic tribes from the Caucasus and eastern Europe to central Europe."
http://www.bioone.org/doi/10.3378/1...d=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed&

I don't know what they mean by that. Are they talking about groups like the Huns, or the Germanic tribes in general? Does anyone have access to the full paper? It is interesting that there's more U5a than there is U4d (15 versus 10) in these villages, and there's 8 U5b as well.

This is the U2d information from Maciamo's page here:
"

  • [*=left]U2d : found in Europe and Central Asia

    • [*=left]U2d1 : found in Central Asia
      [*=left]U2d2 : found in the Balkans and Central Asia
      [*=left]U2d3 : found in the Caucasus

This is what I found about Jenne, the town with all the U2d.

"Nel 1079 circa, Ildemondo dei Conti, comandante di una pattuglia di normanni e di longobardi assediò Jenne ove impose la resa l'invasore, Ildemondo si riappropriò così di Jenne."

There's nothing else of note I could find, except what the paper mentions, which is the ties to Italic tribes. There's nothing about any settlements of medieval tribes from eastern Europe or the Caucasus.
 
Last edited:
More Italian mtDNA has been needed for a while. This study tested many mtDNA SNPs, it isn't low quaility like their Y DNA testing. Once I had the data from this study I'll have over 600 samples from Italy.

Edit: BTW, because these are mountain communities their mtDNA/Y DNA is probably riddled with founder effects. I can already see their mtDNA is.
 
Thank you Sile, I was not aware about this paper. There are some high percentages for T, G2a and I1.

Yes there are high percentages ..............most of the sites now sit in the national park

The T looks like only from the L162 line ...................could be sabine/sabellic people ..............who are a mystery on when they arrived in Italy ( it was before the Romans though )
 
R1b 24% - typical for Italy.

J2a and G2a more than 10%, that's pretty interesting (Etruscans?)


E1b (17-18%), high percent even for Italy.

6% of J2b2 M241 - connection with Balkans during the history?

I1 13%

I2a Dinaric lower than 1%, same as R1a (1.27%).

T is quite common for Central Italy according to Eupedia maps, 5,49%.


There are few G1, J1, Q.


The brackets in table 2 indicate the percentages .............how did you work out your percentages ?
 
More Italian mtDNA has been needed for a while. This study tested many mtDNA SNPs, it isn't low quaility like their Y DNA testing. Once I had the data from this study I'll have over 600 samples from Italy.

Edit: BTW, because these are mountain communities their mtDNA/Y DNA is probably riddled with founder effects. I can already see their mtDNA is.

the mtdna of the paper was commenced in 2010 ...........see original mtdna part below

https://www.researchgate.net/public...ariation_in_an_isolated_area_of_Central_Italy

more info might be in this part for mtdna
 
Looks like your memory is failing, Sile. You posted the same study two years ago and I made a detailed analysis of it.
 
Well, considering it's so bad maybe it's a good thing if everyone forgets about it. :)

You did a great job on that paper, Maciamo. Someone should send the authors a copy. They need the constructive criticism.
 
Old study now
 
Looks like your memory is failing, Sile. You posted the same study two years ago and I made a detailed analysis of it.

there is more in depth information from their mtdna side in their paper on post#9 ................have you looked at that one?
 
Almost all Eupedia maps show 30-10% of R1b Starting from central Italy, and into the South. So yes, for these regions, it is typical.
 
Precision of language matters. The statement was that 24% R1b is typical for Italy.

A reader might take from that phrase that 24% R1b is typical for Italy as a whole, which of course is incorrect.

The correct, clear, phraseology would be that 24% R1b is typical of some areas in Italy.


Bottom line, though, such a bad study really doesn't deserve this much attention once, much less twice.
 
There is a broad range of R1b percentages in Italy, with many areas in the north and Tuscany having 50% and over so I don't see how 24% can be "typical for Italy".
http://www.eupedia.com/europe/Haplogroup_R1b_Y-DNA.shtml

Also, for R1b as for J2a and the other uniparental markers, there is wide variation in the frequencies in these villages, typical of highly drifted areas, so averages are not very informative.

TABLE 2. The number of individuals and haplogroup frequencies in percentage (in brackets) of Y chromosome in the samples from the seven villages
View attachment 8413

Click on the above to enlarge.

The chart illustrates the difficulties with these kinds of studies. It's of course very interesting to get data on such isolated communities. Given that my father's family was located there for six hundred or more years, I certainly wish that Cavalli-Sforza would release all the samples he took in the northern Emilian Apennines.

That doesn't mean that uniparental markers from such isolated communities are necessarily very informative about even the uniparental modern distribution in the general area. Interpretation in terms of the genetic past is also problematical.

From the paper:
""Intrapopulation genetic indices based on Y chromosome profiles are reported in Table 4. The Y chromosome gene diversity in these seven villages, because of their relative isolation, is lower than that found in other Italian and Mediterranean samples."

The other major problem with this paper, the lack of subclade resolution, is rather inexplicable in a paper that's only about eighteen months old. What kind of E1b1b is present here? What kind of G2a is present? What kind of R1b? The migrations of various subclades have been tied to very different areas and time periods. Without this kind of resolution I'm perplexed as to how anyone is supposed to tie these samples to any particular ancient group.


For example, the area in question, which is between Lazio and the Abruzzi, has Neolithic roots, and Italic roots as well.

". Indeed, archeological evidence indicates that the region has been inhabited since at least the Neolithic period, as attested by human remains found in the Mora Cavorso cave near Jenne and dating to 6,405 6 35 BP (L3504), 1r calibrated 5,472–5,314 BC (Rolfo et al., 2009). During the Pre-Roman period, the area between Latium and Abruzzi was inhabited by ancient Italic peoples belonging to Osco-Umbrian or Sabellian populations."

It would be tempting to think perhaps this indicates there was a lot of E1b1b in Neolithic Italian populations, but what if it's E-M81? Even if we assume the R1b is from the Italics, and not from other men from other migrations who moved up into these areas, what kind of R1b is it?

The mtDna, although mostly unremarkable, does have some higher concentrations of U2d, ROa, and HV, but again it's extremely variable. U2d is present in only one village. Most of the HV is from one village. ROa, at least, is in three villages. This is founder effect writ large. Plus, without whole mtDna analysis, the type that was done for mtDna U6, for example, how are we supposed to discern when it arrived and precisely from where? As I pointed out on another thread, ROa has been in Europe for a long time, as has HV.

Isolated areas like mountain and island villages throw up lots of "rare" mtDna. I don't know how valuable it is for drawing huge generalities.

There isn't much on U2d. This old paper links it to "medieval migrations of nomadic tribes from the Caucasus and eastern Europe to central Europe."
http://www.bioone.org/doi/10.3378/1...d=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed&

I don't know what they mean by that. Are they talking about groups like the Huns, or the Germanic tribes in general? Does anyone have access to the full paper? It is interesting that there's more U5a than there is U4d (15 versus 10) in these villages, and there's 8 U5b as well.

This is the U2d information from Maciamo's page here:
"

  • [*=left]U2d : found in Europe and Central Asia

    • [*=left]U2d1 : found in Central Asia
      [*=left]U2d2 : found in the Balkans and Central Asia
      [*=left]U2d3 : found in the Caucasus

This is what I found about Jenne, the town with all the U2d.

"Nel 1079 circa, Ildemondo dei Conti, comandante di una pattuglia di normanni e di longobardi assediò Jenne ove impose la resa l'invasore, Ildemondo si riappropriò così di Jenne."

There's nothing else of note I could find, except what the paper mentions, which is the ties to Italic tribes. There's nothing about any settlements of medieval tribes from eastern Europe or the Caucasus.

Agree - too small samples to conclude, poor Y-haplos depth - drifts - I don't know where are the studied places, if they are far one from another, i 'll look at it - but in remote mountainous places, if they are not too largely spred, a global mean can reflect the initial situation before local drifts in micro-regions (valleys and so on)?
 
Agree - too small samples to conclude, poor Y-haplos depth - drifts - I don't know where are the studied places, if they are far one from another, i 'll look at it - but in remote mountainous places, if they are not too largely spred, a global mean can reflect the initial situation before local drifts in micro-regions (valleys and so on)?

With a list of values like these perhaps the median, which is 32%, would be better? That would certainly be more in keeping with values on the edge of southern Italy, as is the case here.

Even then, I'm not sure it necessarily follows, Moesan. So much is down to chance. Were all the villages settled at the same time, from the same exact area? Were the people who chose to go into the mountains necessarily representative, in terms of uniparental markers, of that area? Autosomally, they probably were, but uniparental markers can vary widely. Then, so much depends on fertility rates, who dies and when. MtDna U4d is in one village, but there are ten people carrying it. Perhaps that original woman's line got lucky.

Ed. I did try to check into the history of these villages, but even Italian sources don't have much. Except for one village which was taken over by some Norman knights, I couldn't find anything after the Roman era. So, I don't know if the founding populations were from the Neolithic-Italici populations of that time, or whether other groups had moved in and no good land being left, retreated into the mountains.
 
That's where my family is from! This thread is interesting.
 
^ Davef, are you the same mix as I am? Half Italian, than quarter, quarter the other stuff?
 

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