Italy DNA Project

Palindromic Testing for ht35 Haplotypes

2007-12-11T16:35:00.000-08:00

I've written before about my suspicions that a significant portion of the R1b1c in Italy may be an "eastern" variant of R1b1c called ht35.

In short summary, the notion is that R1b1c originally arose in eastern Europe (perhaps Anatolia) and subsequently spread west into western Europe. The western spread of R1b1c is predominately marked by a TaqI 49a,f RFLP haplotype known as ht15 whereas in eastern Europe both ht15 and ht35 are found. We have very limited data about ht35, though Cinnioglu et al. contains some STR haplotype from which we can infer that R1b1c with DYS393=12 and DYS461=11 are more likely to be ht35 than ht15. About 30% of the R1b1c in the Italy DNA Project fits this profile.

One problem is that the TaqI 49a,f test is not commercially available. It would be nice to find a proxy, therefore, and so I am proposing a hopeful experiment. Because the TaqI test fragments are in the Yq11 region, there is a chance that extended testing of STRs in this region (i.e. the FTDNA Panel 5 Palindromic Pack) might reveal interesting and useful haplotype data.

To that end, I propose to test several DYS393=12 and DYS461=11 members of the Italy DNA Project for the Palindromic panel of markers. To the best of my knowledge, no one with that haploype has yet undertaken the full Panel 5 test.

I have set up a ChipIn to help fund this testing. People who are interested in furthering this particular goal can "chip in" some money to fund the testing. I have set the goal so that I can fully test at least two people for the entire panel. If the goal is not met, I'll use all the funds on the palindromic markers most likely (in my judgement) to provide a useful result. If more money than the goal is raised, I'll test additional haplotypes.

What a difference a year makes. Part Two.

2007-09-04T12:23:00.001-07:00

Here is a chart showing the mtDNA haplogroup breakdown of the current Italy DNA Project participants. We now have a total of 116 mtDNA results fo.

Haplogroup	Count of Haplogroups in Italy DNA Project	Frequency of Haplogroups in Italy DNA Project
H	50	43%
HV	2	2%
J	5	4%
J1	3	3%
J2	3	3%
K	7	6%
L	2	2%
M	1	1%
N1a	1	1%
N1b	1	1%
T	5	4%
T1	2	2%
T2	6	5%
T3	1	1%
T5	2	2%
U1a	4	3%
U2	1	1%
U3	4	3%
U4	2	2%
U5	3	3%
U6	1	1%
U7	2	2%
V	1	1%
W	2	2%
X	3	3%

What a difference a year makes

2007-09-04T11:16:00.000-07:00

What a difference a year makes.

Less than a year ago, the Italy DNA Project had 100 members. Over the past week, we have surpassed the 300 member mark. As I've done when we passed milestones in the past I wanted to take a minute to update folks on the current Y-DNA and mtDNA haplogroup breakdowns.

Here's the current version of the Y-DNA assignments, based on 207 Y-DNA members:

Haplogroup	Calculated Frequency of Haplogroups in Italy DNA Project
E3b1a	11.6%
E3b1b	1.4%
E3b1c	0.5%
G2	8.7%
I1a	2.9%
I1b*	1.0%
I1b1	1.4%
I1b2	2.9%
J1	4.3%
J2a	15.9%
J2b	1.9%
K2	3.9%
L	1.0%
Q	1.0%
R1a	2.9%
R1b1b	1.0%
R1b1c	34.3%
R1b1c6	0.5%
R1b1c9	1.0%
R1b1c10	1.4%
R2	0.5%

You can see that the classification scheme I used has changed a little since the last update, to favor more precise classification. In many cases, the precise classification scheme has depended on individual analysis and some estimation but I think the overall presenation is very accurate. One case where more testing is probably necessary is in the case of R1b1c. The levels of R1b1c9 and R1b1c10 are probably too low, since few members have tested the crucial S-series SNPs offered by Ethnoancestry.

Near Eastern Origin of Etruscans

2007-04-03T09:05:00.000-07:00

The New York Times has published a very decent summary of several recent studies on the genetic origin of the Etruscans. Several recent papers, including one using mtDNA from cattle breeds, have presented evidence that supports a Near Eastern origin for the people that became known as Etruscans.

mtDNA Haplogroup U3

2007-03-21T10:26:00.000-07:00

Because of the tremendous genetic diversity in Italy, our project sometimes accumulates a group of folks that would be hard to find elsewhere.

One example is the proportion of mtDNA haplogroup U3 in our project. At nearly 5% of our mtDNA results, U3 is nearly ten times as heavily represented in our project as in mitosearch, for example. Because U3 is not very well studied, I was asked by one of our members to look into it. Here's some of what I found.

Haplogroup U3 is a subclade of haplogroup U, and can be distinguished by two commonly reported markers: 16343G (in HVR1) and 150T (in HVR2). In addition, there are two coding region markers (14139G and 15454C) which seperate U3 from other subclades of U.

Moreover, there are two common subclades of U3. U3a is defined by seven coding region markers and and by the HVR1 marker 16390A. U3b is defined by four different coding region markers (and the absence of 16390A, of course). U3a almost always has the HVR1 marker 16519C as well.

By convention HVR1 results are sometimes reported without the 16000 prefix, so U3b usually has HVR1 results of simply 343G and U3a usually has 343G, 390A, and 519C.

U3 is found at the highest frequency among populations around the Black Sea (e.g Bulgaria and Georgia), but is found throughout Europe. It most likely spread from the Caucusas as part of Neolithic expansion into Europe along the Danube River basin, as the map on the right suggests (click here for a printable version).

U3 (especially U3b) is also found at very high levels among some European Roma populations, likely due to a particularly strong founder effect. U3 is also found throughout the Near East and in North Africa.

So why is U3 disproportionately common in Italy, especially in Sicily? One possibility is that the Neolithic expansion that brought U3 into Europe was particularly successful in Italy. Another possibility is that U3, especially U3b, came to Italy with the Roma people in historic times. Additionally, U3 was likely present among many other peoples that had contact with Italy over the millenia (Phonecians, Byzantines, etc.). Perhaps, with more research and further testing, a more accurate picture of U3 will be forthcoming.

R1b in Italy

2007-01-28T15:07:00.000-08:00

In Italy, the most common y-haplogroup is R1b. It accounts for 35% of the members of the Italy DNA Project and about 40% of the total Italian population.

As you can see in the map on the left, it is found at notably higher frequencies in northern Italy than in the south. The regions with the highest concentration are Emilia-Romagna, Lombardia, and Le Marche. The regions with the lowest concentration are Sardegna, Campania, Calabria, and Sicilia.

The regions with the highest concentrations correspond roughly with the area of early Celtic influence and with the territory of the Cisalpine Gaul, and it is thus quite likely that the high frequency of R1b in these northern regions of Italy is due in part to migratory inflows from Celtic areas of Europe. R1b is the dominant haplogroup in northwest Europe, reaching 90% of the population in many areas.

Another explanation is that the modern populations of northern Italy preserve traces of earlier Italian populations (e.g. Etruscans), though this seems less likely to me.

The Etruscans are thought to have been tied to the Veneti, and R1b is present at comparatively low levels in Croat and Slovenian populations (the most direct descendants of the Veneti). On the other hand, R1a is relatively frequent in Balkan areas and in northeastern Italy. You can see traces of this distribution in the haplogroup frequency map for R1a in Italy, on the right, and an incursion of R1b from the Alps would be consistent with the drop in frequency of R1a in the Emilia-Romagna and Marche.

The steep north-south cline of R1b is probably also due in part to migratory inflows from Mediterranean, which resulted in haplgroups E3b and J2 diluting the frequency of R1b in southern Italy.

This can be seen in the map on the left, in which the combined frequency of haplogroups E3b and J2 is shown. E3b and J2 have complex histories, and a full treatment of them is beyond the scope of this discussion. Suffice it to say that southern Italy, Liguria, and Lazio demonstrate a significant impact from the eastern Mediterranean. If there was pre-Neolithic R1b in southern Italy in significant numbers, those numbers are greatly reduced today.

Haplogroup R1b is far from homogenous, however. In recent years professional and amateur geneticists have achieved a much more nuanced understanding of this group.

First, two distinct subclades of R1b have been widely observed and both are represented in the Italy DNA Project. R1b1b is most often found in Central Asia and R1b1c is most often found in Europe. Within R1b1c there are several further subdivisions recoginized in the current ISOGG tree, with the most common ones being R1b1c6, R1b1c7, R1b1c9, and R1b1c10.

R1b1c9 and R1b1c10 are defined by the SNPs S21 and S28, respectively, and both have been observed among our participants. Family Tree DNA does not currently test these two SNPs (EthnoAncestry does, along with some other important novel SNPs), but I expect they will soon. R1b1c9 and R1b1c10 are both associated with contiental Europe and the best thinking is that both originated from in the Balkans or Caucuses (though an Italian origin is, theoretically, possible as well).

R1b1c6 is most often observed in Iberia, while R1b1c7 is most often observed in Ireland. No members of the Italy DNA Project have been found to belong to either of these clades. For this reason, I am reluctant to encourage participants who are predicted to be R1b1c to undertake SNP tests until S21 and S28 (aka U106 AND U152) are included.

Few academic papers have studied the clades of R1b1c in any depth, and John McEwan and others have done an excellent job in collecting data from genealogists who have tested for these markers. I have created frequency maps based on McEwan's data, which show roughly the geographic associations of the four most common R1b1c clades.

One distinction that is potentially relevant to Italy involves a classification scheme that is different from the one used above. This is a bit arcane, but it involves the seperation of R1b1c into two different groups called ht15 and ht35. ht15 is found most in western Europe and ht35 is found most in eastern Europe and Asia. The ht15 and ht35 tests are not commercially available, and these types don't equate perfectly with the SNP-based trees that are currently used.

However one paper, by Cinnioglu et al., examined samples that were previously classified as ht35 for a number of SNPs and Y-STRs. It was found that ht35 contains an absurdly high proportion of DYS393=12. Interestingly, a quick glance at our project's results reveals that DYS393=12 is quite prevalent in Italy (especially southern Italy, as you'll see in a minute).

The vast majority of members of the common R1b1c clades have DYS393 values of 13. In Ireland, Scotland, France, and Germany the frequency of DYS393=13 among R1b folks is over 85%, whereas the frequenc of DYS393=12 is typically less than 6%.

In the Italy DNA Project, by contrast, the frequency of DYS393=12 is 28%: nearly five times as high as in western Europe.

Looking at Italy by region using a larger data set, as the map on the right does, it becomes immediately clear that the DYS393=12 phenomenon in Italy is largely a southern one. Frequencies are fairly high in regions like Puglia, Basilicata, Calabria, and Campania.

In the north of Italy, where R1b is most prevalent, the frequency of DYS393=12 drops to levels more typical of the rest of Europe. Again, this points to the importance of gene flow from Celtic regions to the population structure of northern Italy.

How does this compare with other places?

Well, the Cinnioglu paper found that DYS393=12 reached frequencies approaching 80% in Anatolia and nearly 70% in ht35 samples which were largely collected from the Balkans and Georgia.

I also did a survey of geographical projects at FTDNA and used that data (plus a little more) to create the DYS393=12 frequency map of Europe you see on the left.

I found high levels of DYS393=12 among the Polish project and the Czech project, which is consistent with the notion that high levels of DYS393=12 are associated with a variant of R1b that arose in the Balkans or in Eastern Europe. I also found high levels of DYS393=12 reported in the Dniester-Carpathian region (near Moldova) in a dissertation by Alexander Varzari.

Even among projects that have expressed a great interest in ht35, like the Border Reivers group, I found the overall frequency of DYS393=12 to be quite low and not statistically different from the rest of western Europe. The background levels of DYS393=12 across Europe (about 3-6%) could represent normal diversity within haplogroups that had DYS393=13 as the founder allele or small amounts of eastern R1b that has migrated west.

All in all, the study of R1b in Italy clearly suggests that this haplogroup is associated with both western (Iberian/Celtic) and eastern (Balkan/Asian) sources. It is significantly less clear whether there is a particularly "Italian" variant lurking in all this data.

Two Hundred Members!

2007-01-26T16:10:00.000-08:00

This week the Italy DNA Project hit a new milestone with the addition of our 200th participant. As I write this, the project has over 140 Y-DNA participants and 68 mtDNA participants! It seems like just yesterday that our participation reached 150.

I've been working on a lot of new research, and I hope to finish it up soon so I can share it. Let me say now, though, that the Italy DNA Project is one of most genetically diverse projects at Family Tree DNA. We have a tremendous variety of haplogroups represented, including some subclades not yet reported in any other group. Even within the most common European haplogroup, R1b1c, we have greater haplotype diversity than just any other project I've seen.

For example, among R1b1c in Europe, the most common value for DYS393 is 13. In fact, in many projects DY393=13 is present in over 90% of all R1b1c haplotypes. By contrast, in the Italy DNA Project DYS393=13 is present in just 64% of all R1b1c haplotypes. We have far more DYS393=12 than other projects and far more DYS393=15 than other projects.

This could reflect the persistence of some ancient forms of R1b1c, remaining in Italy from the Upper Paleolithic age, or it could reflect the multiple migrations into Italy over the millenia from Balkan or Asian sources (which are not generally well reprsented in FTDNA projects). My bet is on a combination of both factors.

Regardless, the testing our participants are involved in is exciting and the results will almost certainly help shape the future of population genetics.

So, thank you everyone.

The Cimbri in Northern Italy

2006-11-30T10:50:00.000-08:00

The Cimbri were a Germanic and/or Celtic tribe that attacked the Roman Empire, but were defeated in 101 BC at the Battle of Vercellae. Some accounts suggest that the Cimbri, including women and children, all perished. Others suggest that some of the Cimbri fled to the surrounding country and that their descendants survive in Italy today.

A forthcoming paper by Anders Borglum, et al. (2006), No signature of Y chromosomal resemblance between possible descendants of the Cimbri in Denmark and Northern Italy concludes that the Cimbri in Italy today are genetically distinct from Cimbri living in Himmerland or Denmark.

From the abstract:

Two European populations are believed to be related to the ancient Germanic tribe Cimbri: one living in Northern Italy, the other living in Jutland, Denmark. The people called Cimbri are documented in the ancient Roman historical record. Arriving from the far north their movements can be tracked from successive battles with the Romans. The Cimbri finally entered Italy from the northeast and were defeated at Vercellae (present day Vercelli) in 101 BC by Gaius Marius and his professional legions. Classical sources from the first centuries AD relate the homeland of the Cimbri to the coasts around the Elb estuary (northern Germany) or specifically towards the north (Himmerland in northern Jutland). In the alpine parts of Veneto, northeast of the historical battlefield, local traditions dating back to late medieval time, identify a local population as Cimbri living in Terra dei Cimbri. They are considered the descendents of the Germanic combatants that fled the battlefield at Vercelli. As the defeated Cimbri that possibly fled to the mountains of Northern Italy most likely would have been male (warriors), the present study investigated the possible Y chromosomal diversity of the two present populations using microsatellite markers and single nucleotide polymorphisms. While Cimbri from Himmerland resembled their geographical neighbors from Denmark for the Y-chromosome markers, Cimbri from Italy were significantly differentiated both from Cimbri from Himmerland and from Danes. Therefore, we were not able to show any biological relationship for uniparentally transmitted markers.

The authors looked at both SNP and STR data, and found no relationship between the populations. While it is not possible to dismiss the chance that some limited genetic ties exist, no large scale y-chromosome similarities were found.

Haplogroup R2

2006-11-30T08:04:00.001-08:00

At the moment, one of the least common y-chromosome haplogroups in the Italy DNA Project is haplogroup R2.

This haplogroup has been in the spotlight a little bit recently, due to a paper by Sengupta et al. (2006) entitled Polarity and Temporality of High Resolution Y-chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. Sengupta proposes an Indian origin for haplogroup R2 (along with F* and L1). R2 is found with high frequency throughout South Asia and with diminishing frequency to the west.

Haplogroup R2 is exceedingly rare in Europe, with one notable exception: the Sinte or Sinti. The Sinti are a historically nomadic people, often considered to be a subgroup of the Roma. It is estimated that there are 120,00 to 150,2000 Roma, Sinti, and Caminanti people in Italy. The Sinti populations tend to be genetic isolates, and R2 frequencies as high as 53% have been observed among them.

Recently, an outbreak of measles was found to be clustered among Roma and Sinti Italian populations.

R2 is also found among non-Roma Indian populations, of course, as well as Central Asians (Pakistanis, Kurds, Caucasians, etc) so there are several possible paths that R2 could have taken on its way to Italy.

Our project also has two members in haplogroup L, which is also found in India but is almost never observed among the Sinti or the Roma.

Haplogroup J2a1 Origins in Greece?

2006-11-21T06:43:00.000-08:00

I have been slow to link to Dienekes Anthropology Blog, largely because some of religious and racial views that occassionally crop up there. Nonetheless, Dienekes does a great job of keeping up with the science of genetic and anthropological research in the Mediterranean and elsewhere and I read his blog regularly.

A post entitled Did haplogroup J2a1 originate in Greece?, from December 2005, is a great example of the kind of blogging he does and is relevant to many of the participants in our project. An extract:

However, it could be argued that mobility within the Byzantine and Ottoman Empires may have introduced J2a1 from Anatolia to the Balkans. However, this does not explain the high diversity of J2a1 in Romania and Italy which were little if at all affected by Anatolian populations.Moreover the idea that J2a1 originated in Greece also explains the coastal distribution of J2 in the Mediterranean, observed by Di Giacomo et al.. It is well-known that Greek colonization was especially maritime.

Read the whole thing here.

mtDNA 15497 G/A Polymorphism

2006-11-20T15:18:00.000-08:00

A recent paper from Liquori et al., The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy, looked at

whether the 15497 G/A mtDNA polymorphism (G251S) in the cytochrome b subunit of respiratory complex III, which has been associated with obesity-related variables and lipid metabolism in a Japanese population, is associated with severe obesity also in adult Caucasians from southern Italy.

15497 is a SNP that would be revealed in a full mtDNA sequence, not the more common HVR1 or HVR2 tests done for genealogical purposes. The G>A mutation had been associated with severe obesity, but his study found very weak support for a relationship.

The Liquori study concluded:

The mtDNA 15497 G/A polymorphism in cytochrome b was present in 0.6% obese subjects, two females whose lipid parameters and BMI were similar to those of the overall group. Therefore, this mutation may appear to contribute in rare instances to severe obesity but does not explain the majority of cases in our population. A more extensive genetic haplogroup characterization is required to identify associations to obesity in Caucasians.

What do we know about R1b1b?

2006-11-17T07:11:00.000-08:00

One of the interesting things about a project like the Italy DNA Project is that we occasionally turn up some interesting data. Because of Italy's geographic and historical position, we occasionally find haplotypes and/or haplogroups that are not common in Europe as a whole. Many of these likely result from gene flow from Eastern Europe, the Middle East and Central Asia in both historical and prehistoric times. The existence of two R1b1b, one from Lazio and one from Sicilia, in our project is an example of this phenomenon.

R1b1b is a subclade of haplogroup R1b1, the most common haplogroup in Europe. Haplogroup R1b1 is defined by SNPs M343 and P25 (although P25 is not particularly reliable, as it is prone to back mutation), and contains four subclades:

R1b1a, defined by the SNP M18
R1b1b, defined by the SNP M73
R1b1c, defined by the SNP M269
R1b1d, defined by the SNP M335

The vast majority of R1b males in Europe are in subclade R1b1c (M269+), but the Italy DNA Project has two members (one confirmed and one pending confirmation) in subclade R1b1b (M73+). R1b1b is very rare in Europe (in fact, as far as I know these two Italians are the only M73+ samples discovered in Europe to date), but much more common in Central Asia.

M73 refers to the deletion of 2 basepairs (GT) at nucleotide position 260 on Y-chromosome locus G65537. The SNP was apparently discovered by P.J. Oefner and the first examples were reported in a paper by Underhill et al. (2000). Subsequent examples have been reported in papers by Cinnioglu et al. (2004) and Sengupta et al. (2006).

The Underhill paper reported six samples from Central Asia/Siberia. The Cinnioglu paper reported four samples from Turkey. The Sengupta paper reported ten samples from China, one from Japan, and eight samples from Pakistan. Combined with the two Italian samples from our project, we have identified a grand total of 31.

The six Underhill samples were never haplotyped (not publicly, anyway), but the Cinnioglu and Sengupta samples have all been haplotyped at 10 loci (DYS19, DYS388, DYS390, DYS391, DYS392, DYS393, DYS389I, DYS389II, DYS439, and DYSA7.2).

However, I believe (based on personal correspondence with a reliable source) that at least two of the samples identified as M73+ in the Sengupta paper are not actually R1b1b.

Additionally two of the M73+ in the Cinnioglu paper (haplotypes 442 and 443) have interesting values for DYS390. These two samples have DYS390=19, which is far below the reported value for this marker in any other published R1b samples. DYS390 is a multi-segment locus, and in rare cases the normally invariant flanking segments (DYS390.1, DYS390.2, and DYS390.3) mutate or suffer a deletion (partial or comple). The phenomenon was described by Peter Forster in an excellent 1998 paper, Phylogenetic Resolution of Complex Mutational Features at Y-STR DYS390 in Aboriginal Australians and Papuans.

I have excluded the Japanese sample from my analysis, but am including the remainder at the present time. Haplotype data for the 24 samples in this study are available here.

One of the two Italian samples has been haplotyped at 25 loci and the other haplotyped at 37 loci, but testing is still in progress. Neither has been tested for DYSA7.2 (a.k.a. DYS461) yet. When both samples are done, each will be haplotyped at 38 loci including all ten loci for which the Cinnioglu and Sengupta samples were tested.

Based on the results we have accumulated (i.e. nine common markers for 21 M73+ samples), it looks like the age of the R1b1b subclade is approximately 10,00 to 12,500 years. I made that estimate based on the pairwise genetic distance of the samples and an effective mutation rate (0.00069) from Zhivotovsky (2oo4), but such an estimate should be considered with caution at this stage of the investigation.

Given the distribution of samples, it seems probable that R1b1b arose in Central Asia (possibly near Kazakhstan, Kyrgyzstan, or Uzbekistan which were along the Silk Road connecting China, Turkey, and Italy) and then spread east and west from there.

Based on the limited haplotype data we currently have, there appear to be two distinct branches within R1b1b. The Italian, Anatolian, and Pakistani samples cluster into one branch, while the Chinese samples cluster into another. You can view a preliminary phylogenetic tree showing these clusters. I excluded the Japanese sample from the Sengupta paper, mentioned earlier, but included all the Chinese samples since it is not yet clear which of them is suspect. The reader should be aware that because our sample size is so small, one or two mistaken inclusions/exclusions could have a dramatic impact on the shape of the phylogenetic tree.

At this point, there is no clear defining modal for the group. The modal values for the few samples we have collected are similar to the Atlantic Modal Haplotype (AMH), with one weak exception: DYS393. The R1b1b samples tend to have slightly higher values (e.g. 14) at DYS393 than the AMH variety of R1b1c which has a modal of 13. But this marker is highly variable in both R1b1b and R1b1c, so DYS393 is not predictive for R1b1b.

Our hope is that more complete haplotyping of the existing samples combined with more systematic sampling of Central Asian populations (of the kind being done by the National Geographic Genographic Project) will allow us to refine our understanding of haplogroup R1b1b.

A Little Housekeeping

2006-11-16T15:39:00.000-08:00

Over the weekend, I refined the subgrouping on the Y-DNA results page.

I added a grouping for R1b1c and split the grouping for J2 into J2a and J2b. This makes the size of each grouping much more manageable.

In a few cases I was able to rely on SNP testing to provide the new groupings, but in some cases I had to rely on my own judgement. Some results could not be reliably subgrouped, so there are still some cases of J2 and R1b1. If you have some reason to suspect that I have grouped your result erroneously, please email me.

Early Ethnic Italy

2006-11-08T20:40:00.000-08:00

Last night I was Googling around and I found a really cool map of early Italy on the National Geographic website. If you click the link at the bottom of the page, you can download a higher resolution version as a PDF.

Oh, it is not too late to order Genographic Project public participation kits as holiday gifts for your friends and family.

150th Member

2006-11-06T06:38:00.000-08:00

Over the weekend, we reached 150 participants!

We currently have 106 Y-DNA participants and 56 mtDNA participants.

Population Structure in the Mediterranean

2006-11-03T06:44:00.000-08:00

A paper by Capelli et al. entitled "Population Structure in the Mediterranean Basin: A Y Chromosome Perspective" was published in March by the Annals of Human Genetics.

The authors identified four population clusters in the Mediterranean: North Africa, Arab, Central-East, and West. The Italian and Sicilian samples in the study fall into the Central-East Mediterranean cluster.

The conclusions are a little arcane, but the study found "limited genetic contribution of North African population" to the Italian and Sicilian samples, and also found that the Iberian (Spanish, French, etc) samples were distinct from those in the Central-East cluster. From page 217:

Of interest is the genetic separation that West Mediterranean samples from Iberia display vs. Central and East Mediterranean samples, as shown in this study by Y chromosome SNPs and STRs analyses and by autosomal data (Rosenberg et al. 2002). Investigation of the mtDNA distribution of genetic variation instead seems to support a more homogeneous situation for European Mediterranean populations. Higher female than male gene flow across populations and/or difference in population sizes of breeding individuals between the two genders have been suggested as possible explanations for this observation (Seielstad et al. 1998; Dupanloup et al. 2003).

The authors also concluded that a combination of Neolithic migration, Phoenician and Greek expansion, and Arab conquest played an important role in the genetic structure of the Central and Eastern Mediterranean basin.

Of course we know that genetic influences from more northern populations (Celts, Lombards, etc) are detectable as well, but examining that was beyond the scope of this particular study.

What's With The Ads?

2006-11-02T10:45:00.000-08:00

We are experimenting with the addition of advertisements on the blog. You'll notice them on the right side of the page, at the bottom of the sidebar.

This space was empty before, so I thought I'd try to get some use out of it. I intend to limit the ads to relevant (I hope) products at Amazon.com and text ads from Google. So far, I've not been happy with the Google ads so there are none now but don't be surprised if they show up at some point.

If the ads generate any revenue, that money will flow to the Italy DNA Project's General Fund. The General Fund, in turn, will be used (and can ONLY be used) to subsidize tests and upgrades for project members at Family Tree DNA. I expect the Fund will be used to help folks who have genealogical hurdles that DNA could help them clear but who lack the means to pay for the proper tests. Also, the Fund will be used to pay for tests that are of limited genealogical benefit to the participant but of broad interest to the larger genetic community.

[DNA-ANTHROGENEALOGY]

2006-10-31T16:25:00.000-08:00

If you are not already a member of the DNA-ANTHROGENEALOGY Yahoo! group, then I encourage you to check it out. It is very informative, with spirited discussion.

A recent thread involving the genetic makeup of Italy has provided some especially good reading. I don't think anyone will mind if I quote a little bit of it here:

I am going to speak from the perspective of a little remote mountain town called Montemurro in the Province of Potenza. This is in the Val d'Agri on the southern mainland. You do not get there by accident. It is the village of my grandfather's birth, but most importantly I hope to demonstrate the ethnic diversity found here in the example that if it is this diverse in such a remote and rural area, then imagine the implications for the coastal regions and larger cities and towns.

The village itself was rumored to have been founded by Saracens in the 9th century or so. It is definitely known that the Saracens destroyed the neighboring former Roman town of Grumentum in the 10th century and that the people of Grumentum relocated to Montemurro. Let me pause here for just a moment to explain the ethnic composition of Grumentum, which became the root stock of the village of Montemurro. Grumentum was founded in the 3rd century BC by the Romans. We might assume that the local population constituted at least some of the inhabitants. They were Lucani, also known as Lykoi from Anatolia. They had come to Italy in about 1300 BC and settled in the region of Lucania to which they later gave their name.

That bit was written by Dale J. J. Leppard, but the whole discussion is well worth reading.

Peer Review and SNP discovery

2006-10-31T16:15:00.000-08:00

Yesterday, I encouraged folks who have a haplotype that resembles what I am calling "Eastern I1" and/or who have tested P38+ but are negative for downstream SNPs to engage Ethnoancestry to test EA's proprietary S23 and S31 SNPs. And I stand by that encouragement.

I failed, however, to mention that while these SNPs have been reviewed by ISOGG they have NOT been published or subjected to scientific peer review. Today, I was reminded of this fact by email.

Peer review is an important step in the scientific process, and anyone who undertakes a novel test like these S-series SNPs should be aware that they are ahead of the scientific community. The risk of being in this position is that these tests, which are not inexpensive, could be proven later to be a complete waste because they do not demonstrate what they purport to demonstrate.

As I said, I still hope that at least a few more folks have S23 and S31 tested but I want those folks to know that they are guinnea pigs. I don't mind being at the bleeding edge, and I know that many of the folks I correspond with don't either. It is important that we all remember that the bleeding edge is where we are.

Eastern I1* and R1b1b

2006-10-30T21:09:00.000-08:00

One of the benefits of a project geographic project like this one is that occasionally we stumble across an interesting haplotype or two.

As I write this, we have just over 90 Italian y-chromosomes in the in Italy DNA Project. This is larger than many academic samples and our data is generally much more complete: all of our y-DNA participants have at least 12 STR markers and most have 25 or more. Nearly half the y-DNA participants have been genotyped for haplogroup.

Out of this data are emerging a couple of particularly novel haplotypes that we are studying.

One is a novel type of R1b1b, exhibited by kit numbers 39685 and 67866 (JSKGT and 7MARF at ySearch). These two folks have a distinctive profile of DYS447=22 and DYS449=32, which I have not observed in any other R1b participant in any public database.

Another is a group from Haplogroup I that test positive for M170, M258, P19, and P38 but negative for other I SNPs. Thus, according to the current ISOGG Y-SNP Tree, they are either I*, I1*, I1b*, or I1b2*. None of these are very common, and some are completely unobserved.

Unfortunately, Family Tree DNA does not offer advanced SNPs to further diagnose their haplogroup assignment so I am hopeful that they will engage Ethnoancestry to test the relevant S-series SNP tests and especially S31.

These "upstream" I haplotypes are an interest to Ken Nordvedt, I know, and seem to reflect a strong Eastern European origin. The group has a clear modal (ysearch ID 8V4MA) but enough diversity that STR-based "rules of thumb" are not yet apparent.

As we learn more about these and other haplotypes we will go into more detail here. Needless to say, however, that we are already starting to realize some of the benefits of a rapidly-growing geographical project and that network-effect benefits are starting to accrue.

Diagnostic Markers in Haplogroup G

2006-10-27T07:01:00.000-07:00

We have a number of participants, some recently joined, that are in y-DNA haplogroup G or G2. I encourage these folks to check out an article by Phillip G. Goff and T. Whit Athey entitled "Diagnostic Y-STR Markers in Haplogroup G".

They found that four uncommonly tested markers (DYS425, DYS446, DYS452, and DYF399S1) can be successfully used to diagnose haplogroup G or its subgroups.

These are all available from Family Tree DNA as advanced tests, though DYS425 is part of the DYF371 test and DYF399S1 is part of the DYF399X test

Are Italians underrepresented in DNA testing?

2006-10-26T11:46:00.000-07:00

Are Americans of Italian descent underrepresented in genealogical DNA testing? I think the answer is yes.

To derive this conclusion, I examined ySearch, the largest public-access y-DNA database. As of today (26 October 2006), it contained a total of 33,570 records. Only 282 of those records identify someone from Italy as their most distant ancestor: less than 0.9%.

According to an analysis of the 2000 U.S. census, approximately 5.6% of Americans identified themselves as having Italian ancestry.

That is quite a gap, and can probably best be explained by an disproportionately high level of interest in genealogy on the part of folks from the British Isles.

EDIT: Ken Nordvedt pointed out that the Sorenson Molecular Genealogy Foundation y-chromosome database contains a much higher proportion of Italian samples: about 2.1%. It is speculated that the SMGF makes an effort to include a diverse array of ancestrys.

Of course I'd like to see more Italian-Americans undertake an interest in genealogy, but the main point is that those who DO take genealogical tests should not be surprised to find that their closest genetic matches are not Italian but English, Scottish, Irish, etc. Because those groups are overrepresented in the databases relative to Italians (or anyone of Mediterranean origin, actually), sheer chance is bound to produce a number of near matches.

Which DNA Test to Order?

2006-10-26T08:51:00.000-07:00

One of the first decisions that someone new to genetic genealogy must make is which DNA test to order.

If you are primarily interested in your maternal line, then I have no problem recommending the basic mtDNA test from Family Tree DNA. It will provide a determination of your ancestral haplogroup, and a complete sequencing of the HVR1 region for a cost of $129. Even if you are lucky enough to find an exact HVR1 match, it will take a fair amount of serendipity to connect the matching family to your own. An HVR2 or full sequence upgrade is always available, and might be the first choice for those of unlimited means, but these tests are (in my opinion) best for the truly hardcore amateur geneticists.

If yo are primarily interested in your paternal line, the choice is a little tougher. However, I feel confident in strongly encouraging EVERYONE to order the 37-marker test right at the start. This test has the highest average mutation rate per marker and, and $189 per test, the lowest cost per expected mutation.

What I mean by this is that the combination of markers included in the 37-marker test is quite likely to produce at least one (and maybe two) differences between a pair of men who share a common ancestor from the early 1800s and to do so at the lowest possible cost. Since most Italian civil records are quite complete back to around 1810, conventional genealogical research should often be able to illuminate any relationship more recent than that. Since the purpose of DNA testing is to confirm a suspected relationship, you want a test with enough resolution to do so within about six or eight generations. The 37-marker test is the cheapest test that can do that.

And, if the 37 marker test reveals a close relationship, there are a couple of a la carte markers (DYS413, DYS445, DYS452, etc) than can be added to the basic panel for additional clarity for less than the cost of the 67-marker upgrade. Plus, the 37-marker test is quite robust when it comes to predicting haplogroups which is a valuable side-benefit.

Anyone wishing to join the Italy DNA Project can do so by following this link and ordering the Y-DNA37 test.

100th Member

2006-10-22T08:28:00.000-07:00

The Italy DNA Project is pleased to welcome it's 100th member!

We are excited that the project continues to grow, and that Italy's tremendous diversity is beginning to show through in the haplotypes of our members.

I'll remind you that you can always view the most recent project data at our FTDNA home page: http://www.familytreedna.com/public/Italy/index.aspx.

And anyone wishing to join the project can do so by following this link .

Advanced DNA Tests

2006-10-09T13:00:00.000-07:00

Family Tree DNA has now made some new advanced DNA tests available to existing customers. Soon, new customers will be able to order them, too.

You will now see two options when you go to the "Order Tests" section on your personal page. The "Standard" option will offer the Y-DNA and mtDNA tests that FTDNA have previously offered. For all of typical genealogy group members the Standard section is the one for them. The "Advanced" option will offer these new tests which leads into three different areas.

Expanded Y-STR offerings. These new offerings are y-DNA markers that differ from the markers included in FTDNA's standard panels.
Autosomal STR offerings. Autosomal tests can be used, with some interpretation, to provide information about your ancestors' geographical location and in evaluating close family relationships (paternity, maternity, siblingship, etc.).
X-chromosome STR offerings. Currently useful for close family testing, but possibly helpful in intermediate-term (a couple generations) testing as well.

I won't say much about the autosomal or X-STR tests, because at the moment those tests don't play a role in the Italy DNA project. And I should say that, although the new Y-STR tests are not particularly expensive (they are sold a la carte and in panels), if you have not yet upgraded to the 37 marker tests then you should do that before ordering any advanced tests. The 37 marker panel is a great value and is very helpful in helping answer both genalogical and anthropological questions.

Still, some folks in the Italy DNA Project might be interested in some of the new Y-STR markers. They can help clarify your relation to other folks who are a close match at 37 markers and they can sometimes provide insight into your deep ancestry.

Folks in haplogroup E3b might consider looking at DYS413. This marker is highly mutative, and can be used to segregate E3b into some of its subgroups. Folks in haplogroup J2 might consider both DYS413 and DYS446 for the same reason. Folks in R1b might look at DYS413, DYS463, DYS464x, and Y-GATA-A10.

Also, some markers offered by Sorenson labs (e.g. SMGF, Relative Genetics, and DNA Heritage) are now offered as part of these new advanced tests. Ordering these markers can bring your FTDNA results into full compatibility with relatives who tested at these other labs. The markers that accomplish this are: DYS441, DYS444, DYS445, DYS446, DYS461, DYS462, DYS463, DYS635 (aka Y-GATA-C4), Y-GATA-A10, & Y-GGAAT-1BO7.

Y-DNA Haplogroup Update

2006-09-24T08:45:00.000-07:00

The Italy DNA Project now has fifty y-DNA members, so I thought this would be a good time to update the haplogroup frequency data for the project. Here's the current version:

Haplogroup	Estimated Frequency of Haplogroups in Italian Population	Calculated Frequency of Haplogroups in Italy DNA Project
E3b1	12%	20%
E3b3	3%	0%
G2	6%	6%
I1a	2%	4%
I1b	1%	8%
I1c	2%	0%
J1	2%	4%
J2	25%	34%
K	3%	0%
L	1%	4%
Q3	1%	0%
R1a1	2%	2%
R1b	40%	18%

I have highlighted the haplogroups where we are still seeing what I consider to be a significant difference between our group and my best analysis of the overall Italian population. Our sample size is still small, though, so just a handful of participants can skew the numbers high or low.

Still, I suspect that our sample is biased towards southern Italy (due to the patterns of emigration to the U.S. from Italy in the late 1800's and early 1900's) which accounts for the dearth of R1b and the abundance of E3b and J2. But even then, the frequency of these haplogroups in our project is higher than some estimates for southern Italy itself.

Autosomal marker classification of Europeans

2006-09-15T13:02:00.000-07:00

A recent article in PLoS Genetics, a peer-reviewed open-access journal, entitled "European Population Substructure: Clustering of Norther and Southern Populations" by Michael F. Seldin et al. found that it is possible to accuratedly segregate Europeans into northern and southern populations using a battery of autosomal single nucleatoid polymorphisms (SNPs).

Unlike the directly inherited y-chromosome and mtDNA tests that we use in the project, this project looked at autosomal DNA which is received from both the mother and father. Autosomal DNA is useful at assigning you to a population group (Asian, African, European, etc) but not to a particular family.

This paper is of note in part because Italian and Spanish samples essentially define the southern European genotype. 84 of the 86 Italian participants were classed as "southern", with participants from norther Italy generally more likely to have a greater "northern European" component than participants from southern Italy.

Click here to read the article. Here's the abstract:

Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans.
Under a variety of conditions and tests, there is a consistent and reproducible distinction between “northern” and “southern” European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the “southern” population; and most northern, western, eastern, and central Europeans have >90% in the “northern” population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed >85% membership in the “southern” population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies.

GENOMA - Molecular Genetics Laboratory

2006-09-13T08:43:00.000-07:00

It's been a little quiet the last few weeks. There have been few new results in the project, and no new relevant academic papers have caught my attention.

However, I have found a lab in Italy that can perform y-STR and mtDNA tests so I thought I'd mention it here.

Genoma is located in Rome, and offers a pretty wide array of genetic testing services. Many are medical or paternity-related, but they do offer a 17 loci y-chromosome STR test as well as HVR1 and HVR2 mtDNA testing. An Italian facility might be helpful if you intend to test Italian relatives: some Europeans are reluctant to send DNA to American labs.

The Y-STR test that Genoma offers is the Applied Biosystems AmpF/STR Yfiler kit, and Genoma charges 200 euros (about $254) per sample. The Yfiler kit is often used in academic studies and examines the following loci: DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS 635 (aka Y GATA C4), and Y GATA H4. There are no commercial labs in the U.S. that offer all 17 loci, but the FamilyTree DNA 37-marker test and the Relative Genetics 43-marker test each overlap the Genoma test at 16 loci.

The Genoma 17 loci test offers what I would call moderate discriminatory capacity: somewhat better than a basic 12-marker tests but, because it omits some highly variable markers (e.g. DYS449 and DYS464a/b/c/d) it is notably less discriminatory than the 25-, 26, 37-, or 43-marker tests that are most popular in the U.S. I calculated the average mutation rate of the 17 loci Genoma panel to be about 0.0030.

For reference, I had eleven perfect 12-marker matches in ySearch and five perfect 17-marker matches. That's a notable improvement, but still a lot of false positives.

So, you get a $250 test with Genoma yields somewhat better discriminatory capacity than a $100 test with FTDNA or the Genographic Project BUT you have an Italian lab to work with. For some situations, that might not be a bad tradeoff.

I don't have all the details of the mtDNA tests yet, but I do know that the cost is the same (200 euros) and you'd get HVR1 and HVR2 results.

If you know of other Italian genetics labs that offer competitive services, please let me know via the comments link below or by emailing me (dna@vizachero.com).

Trisavo or Trisavolo?

2006-08-28T06:57:00.000-07:00

My first posting on the naming convention for Italian ancestors has been corrected, thanks to a great catch by Francesco.

I had confounded the Italian words avo and avolo, which are synonymous and mean grandfather. Of course, nonno mean grandfather. When multiplicative prefix is attached to any of these roots (avo, avolo, nonno), the number of generations is extended. Thus, avo means grandfather, bisavo means great grandfather, trisavo means great great grandfather, etc.

Avo is derived from the Latin word avus and avolo is derived from the Latin diminutive of avus, avulus. Interestingly, the English uncle derives from the same root via the intermediate Latin word avunculus (maternal uncle).

Technically, bisavo, bisavolo, and bisnonno are all correct and proper words. However, the frequency of usage seems to vary by degree to ancestry. In practice, bisavo and bisnonno seem to be much more commonly used than bisavolo whereas trisavolo seems to be much more common than trisavo or trisnonno.

A further complication comes from the fact that in the plural, which is the example I originally provided, the -avi form seems to be written into Italian law where bisavolo is used instead of bisavo or bisnonno.

I know I've made this more confusing than I meant to, but the long and short of it is that different Italians will probably use slightly different (but correct) words for their ancestors. But the most popular constructions seem to be:

il padre (i genitori)
il nonno (i nonni)
il bisnonno (i bisnonni)
il trisavolo (i trisavi)
il quartavolo (i quartavi)
il quintavolo (i quintavi)

Haplogroup H Project

2006-08-27T17:46:00.000-07:00

We have quite a few Italian members of mtDNA haplogroup H, which should not be a surprise given how widespread this haplogroup is across Europe.

Rebekah Canada is doing a great job making sense of this group with The H mtDNA Haplogroup Project. If your maternal line is in this group, or if you are simply curious, I highly recommend visiting her site.

And you can join that project while still remaining a member of this one.

Great Great Great Grandparents

2006-08-25T08:29:00.000-07:00

Really interesting information relevant to the Italy DNA project has been lacking this week, so I put together a little chart that is at least tangentially relevant to the project.

Here is a list of the English and Italian names for several generations of direct ancestors. I presented the Italian in the masculine plural, but you can convert the names to the feminine and/or singular pretty easily by substituting the appropriate ending. I nonni becomes il nonno (for grandfather) or la nonna (for grandmother).

The singular form of "great great grandparents" is trisavo or trisava, but it seems to be more common to use the synonymous trisavolo or trisavola when referring to only one grandparent. The plural of trisavolo would be trisavoli. (Thanks to Francesco for pointing out an earlier error).

I'll admit to having concocted the last formation, although I think the construction would be understood by an Italian genealogist. I didn't want my settimavola Maria Simeone (born in 1683 in Villa Santa Lucia) to be left out.

Degree of Relation	English	Italian
1st	Parents	I genitori
2nd	Grandparents	I nonni
3rd	Great Grandparents	I bisnonni
4th	GG Grandparents	I trisavi
5th	3G Grandparents	I quartavi
6th	4G Grandparents	I quintavi
7th	5G Grandparents	I sestavi
8th	6G Grandparents	I settimavi

mtDNA Analysis in Sardinia

2006-08-16T15:42:00.000-07:00

A new academic paper by Cristina Farumene et al., entitled High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates, undertakes a novel look at the the mitochondrial DNA of three villages (Talana, Urzulei, and Perdasdefogu) in the Ogliastra region of Sardinia.

They reconstructed genealogical records of the towns, then undertook mtDNA samples of the living descendants of identified maternal "founders". Essentially, this amounts to an mtDNA snapshot of the towns in the 17th century. From the article's abstract:

For mitochondrial phylogenetic analysis, the best result comes from complete sequences. We therefore decided to sequenced the entire mtDNA (coding and D-loop regions) of 63 individuals selected in three small Ogliastra villages, an isolated area of eastern Sardinia: Talana, Urzulei and Perdasdefogu. We studied at least one individual for each of the most frequent maternal genealogical lineages belonging to haplogroups H, V, J, K, T, U and X. We found in our 63 samples, 172 and 69 sequence changes in the coding and in the D-loop region respectively. Thirteen out of 172 sequence changes in the coding region are novel. It is our hypothesis that some of them are characteristic of the Ogliastra region and/or Sardinia.
We reconstructed the phylogenetic network of the 63 complete mtDNA sequences for the three villages. We also drew a network including a large number of European sequences and calculated various indices of genetic diversity in Ogliastra. It appears that these small populations remained extremely isolated and genetically differentiated compared to other European populations. We also identified in our samples a never previously described subhaplogroup, U5b3, that seems peculiar to the Ogliastra region.

The paper is interesting, but of primary note for us is the high representation (more than 50%) of Haplogroup H. Two of the villages also had a lot of Haplogroup U (20-30%), but Perdasdefogu had almost none. On the other hand, Perdasdefogu had a good amount of K (19%) whereas the other two villages had none. And none of the villages had the level of Haplogroup T that we have in the Italy DNA Project.

Calabria Project results

2006-08-09T09:34:00.000-07:00

We are not the only Italian DNA project around. There are a number of regional and provincial projects (I put a list near the bottom of our project's homepage), and the Calabria DNA Project has just posted some new results.

Haplogroup K and Parkinson's disease

2006-08-07T11:00:00.000-07:00

From a paper by D. Ghezzi et al.

It has been proposed that European mitochondrial DNA (mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD). We evaluated the distribution of the different mtDNA haplogroups in a large cohort of 620 Italian patients with adult-onset (>50, <65>50year old males. In spite of the common 10398G SNP, haplogroups J and K belong to widely diverging mitochondrial clades, a consideration that may explain the different results obtained for the two haplogroups in our cohorts. Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD.

European Journal of Human Genetics (2005) 13, 748–752. doi:10.1038/sj.ejhg.5201425 Published online 13 April 2005

Y chromosome haplotypes in Central-South Italy

2006-08-04T12:09:00.000-07:00

An upcoming release of population data in Forensic Science International may be worth a look.

The abstract:

One hundred and fifty individuals have been sampled across Central-South Italy and genotyped for Y chromosome STRs by PowerPlex® Y system. Comparison with previous Italian databases revealed that majority of Y chromosome variation still need to be sampled. Identification of locus duplications, distribution of genetic variation and firstly identified alleles point to the necessity of more focused sampling strategies for reference databases.

I'll post more if it looks interesting after I've seen the whole article.

Etimologico, anyone?

2006-08-01T15:14:00.000-07:00

The link to DNA is quite tangential, but even genetic genealogy must fall back on traditional research methods eventually, and this handy online etymological dictionary is very handy.

How Much R1b?

2006-07-26T18:17:00.000-07:00

One of the outstanding questions from the halplogroup frequency estimation I did yesterday concerns the frequency of R1b.

Today I revisited the estimate, using the data from the Giacomo paper and a table of regional populations.

Now there are couple of limitations to this analysis. First, Giacomo didn't specifically measure R1b: he reports P*(x R1a). P is the parent of haplogroups Q and R, and so P is actually measuring the frequency of "true" P, Q, R1b, and R2. Undifferentiated P is fairly rare in Europe, but it exists in small amounts along with Q (except Q3, which is largely associated with Native American populations) and R2. Thus, the reported frequency of P*(xR1a) actually overstates the frequency of R1b by a little bit.

The second problem is that Giacomo did not report all other haplogroups, though I think he got all the major ones. Still, this will also cause the R1b proxy to skew a little high.

Anyway, using his data I estimated the P*(xR1a) frequency for each region and then took a weighted average using the regional population as the weight. I got a weighted frequency of about 45%, which means that (given the caveats above) I think the frequency of R1b in Italy is maybe 40-42%, or not far off the estimate I made yesterday.

Haplogroup L

2006-07-26T15:03:00.000-07:00

One of the project's members is a confirmed member of Y-Haplogroup L, which is fairly uncommon in Italy and is most often associated with the Indian subcontinent.

Our member has collected some interesting information about his haplogroup. Worth a read.

Haplogroups of Italy

2006-07-25T17:42:00.000-07:00

Using a variety of sources (cited below), I have compiled an estimate of Y-DNA haplogroup frequencies in Italy. Because the sources examined different haplogroups (often with a variety of nomenclature systems) in different geographies within Italy, some extrapolation and adjustments were necessary.

Still, I think having these estimates compiled in one location will be useful to the participants in the Italy DNA Project. For reference, I have compiled the observed frequency of each haplogroup for our project's current participants.

Haplogroup	Estimated Frequency of Haplogroups in Italian Population	Calculated Frequency of Haplogroups in Italy DNA Project
E3b1	12%	14.5%
E3b3	3%	0%
G2	6%	7.5%
I1a	2%	5.0%
I1b	1%	12.0%
I1c	2%	0%
J1	2%	2.5%
J2	25%	31.5%
K	3%	0%
L	1%	2.5%
Q3	1%	0%
R1a1	2%	2.5%
R1b	40%	22.0%

F. Cruciani et al., "Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa", American Journal of Human Genetics, 74(5): 1014-1022.

F. Di Giacomo et al., "Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects." Molecular Phylogenetics and Evolution, 28(3): 387-395.

M. Pericic et al., "High-resolution phylogenetic analysis of southeastern Europe traces major episodes of paternal gene flow among Slavic populations", Molecular Biology and Evolution, 2005 Oct;22(10):1964-75.

S. Rootsi et al., "Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe", American Journal of Human Genetics 75(1): 128-37.

Z. Rosser et al., "Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language", American Journal of Human Genetics, 67(6): 1526-1543.

O. Semino et al., "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective", Science, 290(5494): 1155-1159.

O. Semino et al., "Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area", American Journal of Human Genetics, 74(5): 1023-0134.