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Angela
06-04-15, 23:01
I really missed this one, probably because the title is pretty non-descriptive of the actual topic. :)

Geneaological Relationships Between Early Medieval and Modern Inhabitants of Piedmont.
http://www.ncbi.nlm.nih.gov/pubmed/25635682

There's always been some uncertainty as to how much autosomal impact the "Langobardi" or Lombards (as a stand in for the Germanic tribes) had on Italy, even northern Italy. Based on the relative paucity of yDna "I1" and R1b U-106, which are usually held to be markers for such ancestry in the Roman and Early Medieval Periods, I've always thought there probably wasn't that much, other than perhaps at their point of greatest impact, which would have been in northeastern Italy where they first entered, then in Lombardia etc. My feeling has always been that the impact in my own area was probably minor, despite the fact that the castles that dot every hill were established by Lombards, and some old, unpublished results showed some yDna I, because it was probably more of an elite male migration that was washed out over succeeding generations and the hundreds of years that have passed.

The only way to get a good handle on all of this is, in my opinion, for someone to do some pretty sophisticated analyses of ancient remains, a la Reich and Lazaridis, of ancient mtDna, yDna, and autosomal Dna from Langobard remains, and then to compare them to modern Italian populations.


This isn't that study or analysis. Apparently, testing of Langobard remains is indeed going on across Italy, of which this is the first result, but they are only reporting on mtDna, which, given how homogenous a lot of European mtDna has been found to be, is the least helpful analysis as far as I'm concerned, and moreover the resolution is only at the level of the mitochondrial hypervariable region I (HVR-I).

Anyway, the mtDna signature of these 28 ancient samples was compared with the dna from three isolated contemporary populations in Piemonte, and also with that from a modern sample drawn from a large city, representing a control for the effects of recent immigration. The authors maintain that:

" the contemporary samples are genealogically independent from the medieval sample..., with one exception, Trino Vercellese, in which the evidence was compatible with persistence up to the present time of genetic features observed among this early medieval population. We conclude that it is possible, in general, to detect evidence of genealogical ties between medieval and specific modern populations. However, only seldom did mitochondrial DNA data allow us to reject with confidence either model tested, which indicates that broader analyses, based on larger assemblages of samples and genetic markers, are needed to understand in detail the effects of medieval migration."

That seems rather noncommittal to me, and certainly doesn't give us any percentages autosomally in terms of total impact.

I'm also unsure that the mtDna from these Lombard remains is necessarily a match for "original" Lombard dna. How do we know that it isn't mtDna picked up during their sojourns and travels? The only evidence the authors posit is that:

"In the Piedmont medieval sample, gene diversity (0.942) and Mean Number of Pairwise Differences (3.484) are similar to, but both lower than, the average found for the other 79 (ancient and contemporary) populations (mean 0.957 and 4.067 respectively, see S2 Table (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.s007)). Among other ancient populations, estimates of internal genetic variation appear close in the Etruscans (0.943; 2.966) [9 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref009)] and lower in Bronze-age Sardinians (0.830; 1.390) [8 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref008)], pre-Roman Iberians (gene diversity not given; 2.120) [51 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref051)] and in a Medieval sample from Tuscany (0.860; 1.971) [6 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref006)].Accordingly, we see no reason to suspect that the early medieval, or “Lombard” individuals may represent a heterogeneous assemblage of people of different origins, even considering their vicinity in space and time and their archaeological affinities, and from this point on we felt justified in treating them as a single population. FST distances place Lombards in the middle of the area in which most of the populations cluster, graphically represented in S3 Fig. (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.s003) by a MDS plot."



Is that enough?

This is the list of ancient mtDna which they found (Table 1, which also contains the GenBank accession numbers).
H (7)
H2b (3)
H24 (2)
H2a2b1
H6a1b1

J (4)
J2a2c

T2e (2)
T

I2a

U4
U2e1
U5a1b1e (2) i
U5a2a

I quickly scanned Jean Manco's list of ancient mtDna and some of these mtDna lineages do show up in Yamnaya and Corded Ware but then Italic Indo-Europeans might have carried the same lines, so how is one supposed to distinguish one from the other? Anyway, these are the ones I saw on her list: U2e1a, U5a1a1, U4, H2b, H6a1b, H, I, J and T.

Perhaps someone very versed in mtDna can provide us with some more insight after taking a look at it, particularly in light of where these mtDna subclades appear in ancient samples and in today's modern populations.

Oh, the reason that they might have been able to find the link with the one isolated town, and not to other villages where people also possess mainly native Piemontese surnames is this:

"The 75 samples from Trino Vercellese were collected in 1994 from individuals belonging to the Association “Partecipanza dei boschi”, whose members have been transmitting their membership from generation to generation since the Middle Ages, and therefore have been settled in the same archaeologically important area for at least 20–30 generations;"

I wonder if Cavalli Sforza still has the blood samples from the Apennines he used all those years ago? If not, it's time to go test those now elderly people.

Angela
07-04-15, 03:42
Oh, there is a table of all the mtDna from the modern Piemonte groups in the accompanying tables.

I looked up the town....lovely, but very rural

These are some pictures of the directors and officers of the organization. They certainly fit within northern Italian variation.

http://www.piemonteoggi.it/news/1022022015182243_ConferenzaStampaComunePartecipanz asituazionearborea.jpg
The man in the center is the president. I'm not sure whether the dark haired man on the right is from the organization.

Here he is again...he looks like my father's family...
http://www.tgvercelli.it/processed/TTUXT-20140115-155121-EJOBUMDSCF6432.JPG
http://www.lastampa.it/rf/image_lowres/Pub/p3/2013/04/08/Vercelli/Foto/TYPED-39392-PARTECIPANZA_1.JPG

http://www.piemonteoggi.it/news/verc_SINDACO.jpg

http://www.fabbio.it/cgi-bin/foto/568/Ugo-Cavallera-500.jpg

Fire Haired14
07-04-15, 05:48
Interesting. I'll definitely read this paper. I'm most interested in the modern mtDNA. I'm almost finished going through over 2,500 HV1(and sleceted CR-SNPs) sequences from SouthWest Asia. They're totally differnt from Neolithic Europeans, many of their lineages split a gazillion years ago in the Balkans or Middle East. SouthWest Asians though share a lot of lineages(outside of typical EHG stuff) with Yamna.

Sile
07-04-15, 08:30
while on italian studies...............maybe someone can get this below.....I cannot get access to it.

Forensic Sci Int Genet. 2015 Mar;15:56-63. doi: 10.1016/j.fsigen.2014.10.008. Epub 2014 Oct 14.
Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.
Robino C1, Ralf A2, Pasino S3, De Marchi MR3, Ballantyne KN4, Barbaro A5, Bini C6, Carnevali E7, Casarino L8, Di Gaetano C9, Fabbri M10, Ferri G11, Giardina E12, Gonzalez A13, Matullo G9, Nutini AL14, Onofri V15, Piccinini A16, Piglionica M17, Ponzano E18, Previderè C19, Resta N20, Scarnicci F21, Seidita G22, Sorçaburu-Cigliero S23, Turrina S24, Verzeletti A25, Kayser M2.
Author information
Abstract

Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.

Angela
07-04-15, 14:54
while on italian studies...............maybe someone can get this below.....I cannot get access to it.

Forensic Sci Int Genet. 2015 Mar;15:56-63. doi: 10.1016/j.fsigen.2014.10.008. Epub 2014 Oct 14.
Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.
Robino C1, Ralf A2, Pasino S3, De Marchi MR3, Ballantyne KN4, Barbaro A5, Bini C6, Carnevali E7, Casarino L8, Di Gaetano C9, Fabbri M10, Ferri G11, Giardina E12, Gonzalez A13, Matullo G9, Nutini AL14, Onofri V15, Piccinini A16, Piglionica M17, Ponzano E18, Previderè C19, Resta N20, Scarnicci F21, Seidita G22, Sorçaburu-Cigliero S23, Turrina S24, Verzeletti A25, Kayser M2.
Author information
Abstract

Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.

Interesting study. I'll see if I can get it for you. If I have any luck, I'll start a thread for it.

Sile
07-04-15, 20:34
Interesting study. I'll see if I can get it for you. If I have any luck, I'll start a thread for it.

thanks
Hope you can

Pax Augusta
30-04-15, 17:58
I'm also unsure that the mtDna from these Lombard remains is necessarily a match for "original" Lombard dna. How do we know that it isn't mtDna picked up during their sojourns and travels? The only evidence the authors posit is that:

"In the Piedmont medieval sample, gene diversity (0.942) and Mean Number of Pairwise Differences (3.484) are similar to, but both lower than, the average found for the other 79 (ancient and contemporary) populations (mean 0.957 and 4.067 respectively, see S2 Table (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.s007)). Among other ancient populations, estimates of internal genetic variation appear close in the Etruscans (0.943; 2.966) [9 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref009)] and lower in Bronze-age Sardinians (0.830; 1.390) [8 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref008)], pre-Roman Iberians (gene diversity not given; 2.120) [51 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref051)] and in a Medieval sample from Tuscany (0.860; 1.971) [6 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref006)].Accordingly, we see no reason to suspect that the early medieval, or €œLombard€ individuals may represent a heterogeneous assemblage of people of different origins, even considering their vicinity in space and time and their archaeological affinities, and from this point on we felt justified in treating them as a single population. FST distances place Lombards in the middle of the area in which most of the populations cluster, graphically represented in S3 Fig. (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.s003) by a MDS plot."



"Among other ancient populations, estimates of internal genetic variation appear close in the Etruscans (0.943; 2.966) [9 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref009)] and lower in Bronze-age Sardinians (0.830; 1.390) [8 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref008)], pre-Roman Iberians (gene diversity not given; 2.120) [51 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref051)] and in a Medieval sample from Tuscany (0.860; 1.971) [6 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312042/#pone.0116801.ref006)].A"


Angela, are they saying that this Piedmont medieval sample is closer to Etruscans? Or just the opposite?

http://i.imgur.com/jiwWkDc.jpg

Angela
30-04-15, 20:13
@Pax Augusta: I don't think they're saying either.

It seems to me that their logic is that ""In the Piedmont medieval sample, gene diversity (0.942) and Mean Number of Pairwise Differences (3.484) are similar to, but both lower than, the average found for the other 79 (ancient and contemporary) populations (mean 0.957 and 4.067 respectively..."

So, because there's slightly less diversity than the average found for the other 79, that means the Langobard sample is a "pure" maternal group, or at least that's their contention.

They then point out that the Etruscans had a similar level of diversity in their mtDna in comparison to the Langobardi, but that genetic diversity was even lower, i.e. so less evidence of "admixture" in Bronze Age Sardinians, pre Roman Iberians, and a medieval Tuscan sample.

Some of it doesn't make much intuitive sense to me, and given how few samples we have, I wouldn't hang my hat on these conclusions.

Anyway, that's how I read it; perhaps other people would interpret it differently.