New autosomal analysis of Iberia

Angela

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Clare Bycroft1, Ceres Fernandez-Rozadilla2, Clara Ruiz-Ponte2, Inés Quintela-García2,3, Ángel Carracedo2,3, Peter Donnelly1,4†, Simon Myers4,1†‡

"Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula"

https://www.biorxiv.org/content/biorxiv/early/2018/03/12/250191.full.pdf

"Genetic differences within or between human populations (population structure) has been studied using a variety of approaches over many years1-5. Recently there has been an increasing focus on studying genetic differentiation at fine geographic scales, such as within countries6-8. Identifying such structure allows the study of recent population history, and identifies the potential for confounding in association studies, particularly when testing rare, often recently arisen variants9. The Iberian Peninsula is linguistically diverse, has a complex demographic history, and is unique among European regions in having a centuries-long period of Muslim rule10.Previous genetic studies of Spain have examined either a small fraction of the genome12-14 or only a few Spanish regions15,16. Thus, the overall pattern of fine-scale population structure within Spain remains uncharacterised. Here we analysegenome-wide genotyping array data for 1,413 Spanish individuals sampled from all regions of Spain. We identify extensive fine-scale structure, down to unprecedented scales, smaller than 10 Km in some places. We observe a major axis of genetic differentiation that runs from east to west of the peninsula. In contrast, we observeremarkable genetic similarity in the north-south direction, and evidence of historical north-south population movement. Finally, without making particular prior assumptions about source populations, we show that modern Spanish people have regionally varying fractions of ancestry from a group most similar to modern north Moroccans. The north African ancestry results from an admixture event, which wedate to 860 - 1120 CE, corresponding to the early half of Muslim rule. Our results indicate that it is possible to discern clear genetic impacts of the Muslim conquest and population movements associated with the subsequent Reconquista."

They're using people with all four grandparents from the same region, so all the results are reflecting the clusters from around 1900, when there might have already been some modern internal migration.

"Overall, the major axis of genetic differentiation runs from east to west, while conversely there is remarkable genetic similarity on the north-south direction. In a complementary analysis that included Portugal, although fewer SNPs (Methods), Portuguese individuals co-clustered with individuals in Galicia (Supplementary Figure 1a), showing that this pattern extends across the whole Iberian Peninsula. Indeed, rather than solely reflecting modern-day political boundaries, the broad-scale genetic structure of the region is strikingly similar to the linguistic frontiers present in the Iberian Peninsula around 1300 CE (Figure 1c)."

I'm not so sure about part of the above. It seems to me that the north to south "general" similarity reflects the Reconquista.

"For all six Iberian clusters the largest contribution comes from France (63 - 91%), with smaller contributions that relate to present-day Italian (5 - 17%) and Irish (2 - 5%) groups. With the exception of the Basque cluster, these three donor groups dominate, and contributeproportionally similar amounts throughout Iberia, so probably represent ancient ancestry components rather than recent migration. In contrast, north Moroccan ancestry shows strong regional variation (Figure 3c, Methods). See Supplementary Information for a fuller discussion of the ancestry profiles."

"To distinguish between possible scenarios that could produce these patterns, we applied the GLOBETROTTER method20 to each of our six clusters (Methods). GLOBETROTTER infers dates of admixture and the make-up of the source populations, and tests whether admixture patterns are consistent with a simple mixing of two groups at a single time in the past, compared to more complex alternative models. GLOBETROTTER found strong evidence (p < 0.01) of admixture for all six clusters (Methods; Table S3a in Supplementary Information). For all six clusters, an extremely similar event was inferred (Figure 3b), in a tight time-range of 860 - 1120 CE, and with similar source groups, present in varying proportions (4 -10% for the minor group). The major source was inferred to contain almost exclusively European donor groups, and the minor source is made up of mainly north west African donor groups, including Western Sahara, and to a lesser extent west Africans (YRI), consistent with the overall ancestry profiles. The ‘Portugal-Andalucia’ cluster shows the greatest YRI contribution, and also shows some evidence of a second admixture date, with a more recent event involving only sub-SaharanAfrican-likeand European-like source groups (see Supplementary Information for a fuller discussion; Supplementary Figure 6). This indicates a recent pulse of subSaharanAfrican DNA, independent of the north African component."

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Great find Angela thank you for this.

"We speculate that the pattern we see is driven by later internal migratory flows, such as between Portugal and Galicia, and this would also explain why Galicia and Portugal show indistinguishable ancestry sharing with non-Spanish groups more generally. Alternatively, it might be that these patterns reflect regional differences in patterns of settlement and integration with local peoples of north African immigrants themselves, or varying extents of the large-scale expulsion of Muslim people, which occurred post-Reconquista and especially in towns and cities"

I think this would the explanation on why Galicia has got quite a bit of E-M81 and a little bit of African admixture.

It's also interesting that Italy north and south have different genetics from each other but, Spain is the opposite in which north and south is similar.
 
Very interesting, it is good that studies are made of the Iberian Peninsula or also called Southwest of Europe, and not interpreted through studies conducted in other parts of Europe.
 
Sorry, wrong thread.
 
It's great to see a detailed autosomal analysis of Iberians. The east-west cline was apparent from the Y-haplogroups distribution, although the regions don't match exactly. This study confirms the distinct genetic identity of the Basques, Catalans and Galicians/Portuguese compared to the rest of the Spanish population. We already knew that from linguistics and Y-DNA, but it's good to have autosomal DNA further corroborating it.
 
The large contribution from France is interesting at 63%-91%. Might explain why I get such significant Iberian Peninsula scores on various ethnicity estimates.

The Italian contribution of 5%-17% is surprising as well. I thought it would be higher. Ancestry DNA seems to give people from the Iberian Peninsula higher amounts of Italian on their ethnicity estimates.
 
The large contribution from France is interesting at 63%-91%. Might explain why I get such significant Iberian Peninsula scores on various ethnicity estimates.

The Italian contribution of 5%-17% is surprising as well. I thought it would be higher. Ancestry DNA seems to give people from the Iberian Peninsula higher amounts of Italian on their ethnicity estimates.

What they call contribution from France is surely linked to ancient Celtic ancestry, and perhaps even Proto-Celtic.

The Italian contribution is very likely from the Romans, and in fact the 5-17% (or even up to 20%) corresponds to the levels of Italian admixture reported by Living DNA for individuals from Belgium, Switzerland or Austria, regions that had about the same amount of Roman colonies as Iberia. I expect to find higher Italian ancestry in parts of Iberia with higher R1b-U152 (and esp. Z56) like the Mediterranean coast (esp. Catalonia), Andalusia, central-south Portugal, and perhaps also Galicia, but much lower in the Basque country.
 
Great find Angela thank you for this.

"We speculate that the pattern we see is driven by later internal migratory flows, such as between Portugal and Galicia, and this would also explain why Galicia and Portugal show indistinguishable ancestry sharing with non-Spanish groups more generally. Alternatively, it might be that these patterns reflect regional differences in patterns of settlement and integration with local peoples of north African immigrants themselves, or varying extents of the large-scale expulsion of Muslim people, which occurred post-Reconquista and especially in towns and cities"

I think this would the explanation on why Galicia has got quite a bit of E-M81 and a little bit of African admixture.

It's also interesting that Italy north and south have different genetics from each other but, Spain is the opposite in which north and south is similar.

Yes, I think what they're saying is that the Iberian population was pretty homogenous from the Mesolithic through the Neolithic and even the Bronze Age. Geography has a lot to do with that. Contrary to what people speculated for a long time, and which I always contested, the Mediterranean is indeed a barrier to mass migration. Just navigating through the channel between North Africa and Sicily is very perilous. Ulysses tells us all about it. :) Also, the currents and winds in the Mediterranean flow in particular patterns so that travel between even two locales which are very close as the crow flies can be exceedingly difficult. It took very sophisticated navigation advances to counter that, and that happened much further on than the periods we're discussing.

So, access into the Iberian peninsula flowed mostly in one direction for a very long time, from Italy and then southern France via the sea in the Neolithic, with only minor migration coming from central Europe, and then probably only over the Pyrenees during the Bronze Age, although I'm not sure about that.

Once in Iberia there are no obstacles to flow between populations, in contrast to the case in Italy, which is an exceedingly mountainous country. Italy can also be accessed more easily by sea from the Aegean and Greece because of those sea and wind currents and because the civilizations to the east were more sophisticated in terms navigation at a much earlier time. Also, crossing the Adriatic is not very difficult. At certain places and seasons, you can see the Balkans from Italy, and there are even in places certain small islands to provide staging positions. I once read an article about farmers literally being able to drive their cattle across, although I can't now find it.

Geography or location is destiny in many ways.

They seem to be saying that the east/west cline is because of differing absorption of North African admixture, and Jewish admixture as well, although they don't mention it. They're speculating, of course, but I suppose it's possible that the expulsion was more draconian in the eastern regions, or that the Moorish rank and file were settled more extensively towards the east.

The case of the Belmonte Jews, who fled to very rural areas in the western portions of Iberia, might be informative. Other groups of not only Jews but people with North African ancestry might have totally lost their sense of Jewish or Moorish identity and dispersed into the general population.

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https://en.wikipedia.org/wiki/History_of_the_Jews_in_Belmonte

I'm not saying it definitely happened, but I suppose it's possible.

I'd add, though, that while perhaps the span of 3% to 10% North African ancestry might be correct, I'm not sure I'd rely completely on Hellenthal's program for detecting the date of the admixture. Like all such programs I think it conflates all the gene flows and sort of "pins" it to the most recent such event. I don't think, in other words that all the "E" and "J" lineages arrived with the Moors. I think it's more complicated than that.
 
What they call contribution from France is surely linked to ancient Celtic ancestry, and perhaps even Proto-Celtic.

The Italian contribution is very likely from the Romans, and in fact the 5-17% (or even up to 20%) corresponds to the levels of Italian admixture reported by Living DNA for individuals from Belgium, Switzerland or Austria, regions that had about the same amount of Roman colonies as Iberia. I expect to find higher Italian ancestry in parts of Iberia with higher R1b-U152 (and esp. Z56) like the Mediterranean coast (esp. Catalonia), Andalusia, central-south Portugal, and perhaps also Galicia, but much lower in the Basque country.

Not to side track this topic but to address your Living DNA/Roman influence I feel my scores are quite interesting.

My mom is French Canadian and should have Roman influences from her Poitou/Aunis ancestors. My dad is Wallonia Belgian and should have some Roman influence as well. However, I received 0% from Central or Northern Italy on Living DNA.

In Cautious Mode I received 63% Great Britain and Ireland which matches my 63% Northwestern on DNA Land. So it corresponds most likely to a Celtic/Germanic mix. I also received 13% North Yorkshire which matches my 13% Scandinavian on Ancestry. 14% was assigned to northwestern related and 22% was european unassigned.

In Standard Mode the 14% Northwestern related became France so it probably represents some Celtic/Basque like mix. The other 22% was still unassigned.

In Complete Mode the 22% became 9.5% Iberian, 8.3% Southern Italy, and 4.1% Balkan. If there is a Roman influence it is more Roman Empire than Romans from central Italy.
 
If I remember correctly, Morocco had Phoenician colonization, it belonged to the Roman Empire and there must have been colonies, it had Germanic invasions, I believe that many expulsions of Moriscos that were really Iberians ended up in Morocco, my question as an amateur is, how do these genetic contributions of Phoenicians, Romans, Germans, Iberians of which really are own contributions of North Africa in Iberica genetics?
 
Not to side track this topic but to address your Living DNA/Roman influence I feel my scores are quite interesting.

My mom is French Canadian and should have Roman influences from her Poitou/Aunis ancestors. My dad is Wallonia Belgian and should have some Roman influence as well. However, I received 0% from Central or Northern Italy on Living DNA.

In Cautious Mode I received 63% Great Britain and Ireland which matches my 63% Northwestern on DNA Land. So it corresponds most likely to a Celtic/Germanic mix. I also received 13% North Yorkshire which matches my 13% Scandinavian on Ancestry. 14% was assigned to northwestern related and 22% was european unassigned.

In Standard Mode the 14% Northwestern related became France so it probably represents some Celtic/Basque like mix. The other 22% was still unassigned.

In Complete Mode the 22% became 9.5% Iberian, 8.3% Southern Italy, and 4.1% Balkan. If there is a Roman influence it is more Roman Empire than Romans from central Italy.

I always use the complete mode for Living DNA comparisons. I have never seen any Walloon results from Living DNA with 0% of Italian. The lowest was 2% for someone who was half Flemish. The others had between 10% and 20%.

In about 10 Walloon samples I have seen, half had no Iberian admixture at all. Three had a bit of Basque (1 to 3%) and only one had 2.5% of Iberian. So I think that your Iberian comes mostly from your mother's side (Poitou is a region that scored higher Iberian than the French average in 23andMe too).
 
If I remember correctly, Morocco had Phoenician colonization, it belonged to the Roman Empire and there must have been colonies, it had Germanic invasions, I believe that many expulsions of Moriscos that were really Iberians ended up in Morocco, my question as an amateur is, how do these genetic contributions of Phoenicians, Romans, Germans, Iberians of which really are own contributions of North Africa in Iberica genetics?

They mention that by other analyses, the strongest resemblance is to western Sahara populations, not coastal communities that might have absorbed Iberian Moriscos or Jews fleeing to North Africa.
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I do think it's interesting that the earliest date of admixture is in the Basque and more northern regions, because after only one to two hundred years the Moors were indeed pushed south.

I agree with you in general though, Ros, in that I think some of this gene flow may be eastern Mediterranean, not necessarily all North African. As I said above, I'm no big fan of Hellenthal's dating algorithm. If I'm interpreting this correctly, you can tell because the date of admixture for the southern regions is later, and that would make no sense, since the flow went south to north. It would make sense if they're only picking up the date of the last admixture event, however.

I also think that the yDna shows what may be post early Bronze Age gene flow from the east, not from North Africa. In fact, post early Bronze Age gene flow from the east into Europe, and not just southern Europe, seems to be rather ubiquitous.

So, yes, I think the Phoenicians, but perhaps also others might have had some impact. They're relying too much on that algorithm, in my opinion, and I think there are issues with it.

However, in terms of the Neolithic, about which it was posited that some of that "North African" like ancestry might have entered Iberia during that time, I think this data indicates it was probably not the case. It's more recent than that, if not all during the early Middle Ages.

They also don't factor in that some of the extra Yoruba related gene flow in the west, specifically Portugal, has already been shown to be related to reverse migration from the New World.
 
I always use the complete mode for Living DNA comparisons. I have never seen any Walloon results from Living DNA with 0% of Italian. The lowest was 2% for someone who was half Flemish. The others had between 10% and 20%.

In about 10 Walloon samples I have seen, half had no Iberian admixture at all. Three had a bit of Basque (1 to 3%) and only one had 2.5% of Iberian. So I think that your Iberian comes mostly from your mother's side (Poitou is a region that scored higher Iberian than the French average in 23andMe too).

I was just curious about what you think the Roman influence would be in my case (if any at all) since I scored 0% Tuscany or Central Italy? When you say your Wallonia samples scored “Italian” are you including the north, central, and south or just Tuscany? I remember reading in the past you thought Living DNA Tuscany percentages in northwestern Europeans might be a good proxy for Roman influence.


To get back on topic I’m still confused about the similarities between southwestern France and the Iberian Peninsula. Is it a Basque like similarity since Basques get 100% Iberian on Ancestry and 23andMe? I get 25% Iberian on some calculators but only 4-8% Basque on other calculators so it’s not a direct correlation for me. Is it a Proto-Celtic like similarity? Is it a pre Indo European type similarity? Or maybe a combination of all of these above?
 
What they call contribution from France is surely linked to ancient Celtic ancestry, and perhaps even Proto-Celtic.

The Italian contribution is very likely from the Romans, and in fact the 5-17% (or even up to 20%) corresponds to the levels of Italian admixture reported by Living DNA for individuals from Belgium, Switzerland or Austria, regions that had about the same amount of Roman colonies as Iberia. I expect to find higher Italian ancestry in parts of Iberia with higher R1b-U152 (and esp. Z56) like the Mediterranean coast (esp. Catalonia), Andalusia, central-south Portugal, and perhaps also Galicia, but much lower in the Basque country.

and are you sure that it isn't just neolithic genome, maybe even parts of the additional west asian admixture that was brought during late neolithic, that is labeled as italian because its highest frequency nowadays is in italy? i mean 20% in belgium after around 1500 years is massive.
 
Spain is just as "Neolithic", if not as West Asian, as Italy, but Iberian isn't picked up, so I don't see how that can be it.
 
I agree with you in general though, Ros, in that I think some of this gene flow may be eastern Mediterranean, not necessarily all North African

So, yes, I think the Phoenicians, but perhaps also others might have had some impact. They're relying too much on that algorithm, in my opinion, and I think there are issues with it.

However, in terms of the Neolithic, about which it was posited that some of that "North African" like ancestry might have entered Iberia during that time, I think this data indicates it was probably not the case. It's more recent than that, if not all during the early Middle Ages.
Yep that makes sense since they stuck around eastern Spain since they have less north African on average. But western Iberia is more North African shown on the paper but it can be misleading.
They seem to be saying that the east/west cline is because of differing absorption of North African admixture, and Jewish admixture as well, although they don't mention it. They're speculating, of course, but I suppose it's possible that the expulsion was more draconian in the eastern regions, or that the Moorish rank and file were settled more extensively towards the east.
The case of the Belmonte Jews, who fled to very rural areas in the western portions of Iberia, might be informative. Other groups of not only Jews but people with North African ancestry might have totally lost their sense of Jewish or Moorish identity and dispersed into the general population.

I'm not saying it definitely happened, but I suppose it's possible.


I'd add, though, that while perhaps the span of 3% to 10% North African ancestry might be correct, I'm not sure I'd rely completely on Hellenthal's program for detecting the date of the admixture. Like all such programs I think it conflates all the gene flows and sort of "pins" it to the most recent such event. I don't think, in other words that all the "E" and "J" lineages arrived with the Moors. I think it's more complicated than that
That can be a possibility since in the average admixture in Iberia has shown this. In ancestry I got 3% north African so it is possible on what your saying what i do understand is that eastern Spain there was a lot more conflicts around that time in which can explain the lower % from them. I do agree on the bold text since DNA tests have shown that.

Lastly Spain is the closest country to Africa so yeah it's possible for a easier ride then Italy to get there
 
It's also interesting that Italy north and south have different genetics from each other but, Spain is the opposite in which north and south is similar.
This is due to the Reconquista and the repopulation policy. Eache of the conquered areas was occupied by Christians from the north in exchange for farmland and certain privileges. That´s why genetics is similar.
Once in Iberia there are no obstacles to flow between populations, in contrast to the case in Italy, which is an exceedingly mountainous country. Italy can also be accessed more easily by sea from the Aegean and Greece because of those sea and wind currents and because the civilizations to the east were more sophisticated in terms navigation at a much earlier time. ow find it.
Spain is the second most mountainous country in Europe, after Switzerland. It has a totally uneven and complex orography with many reliefs, including its mountainous systems. That orography has influenced the creation of separate societies. However, as I said before, it was the Reconquista and the Repopulation that made genetic similarity possible.
 
.It's also interesting that Italy north and south have different genetics from each other but, Spain is the opposite in which north and south is similar.
This is due to the Reconquista and the repopulation policy. Eache of the conquered areas was occupied by Christians from the north in exchange for farmland and certain privileges. That´s why genetics is similar.
Once in Iberia there are no obstacles to flow between populations, in contrast to the case in Italy, which is an exceedingly mountainous country. Italy can also be accessed more easily by sea from the Aegean and Greece because of those sea and wind currents and because the civilizations to the east were more sophisticated in terms navigation at a much earlier time. ow find it.
Spain is the second most mountainous country in Europe, after Switzerland. It has a totally uneven and complex orography with many reliefs, including its mountainous systems. That orography has influenced the creation of separate societies. However, as I said before, it was the Reconquista and the Repopulation that made genetic similarity possible.
 

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