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E_M81_I3A
03-15-2018, 07:48 PM
I am just reposting here some tables I posted in other threads as I think it is the first time we have a clear picture of mtDna L in the Iberian Peninsula based on rather large samples from all regions.

1) Spain

In July 2016, Ruth Barral-Arca et al, "Meta-Analysis of Mitochondrial DNA Variation in the Iberian Peninsula" (http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0159735) reported the below frequencies for Spain (S1/S2 Tables) :

https://image.ibb.co/gNDqCx/Spain_Mt_Dna.jpg (https://imgbb.com/)

And as we can see, if we exclude small samples, Galicia has the highest frequency of mtDna L at about 3% (16/548). If we consider that in that region, mtDna L comes from Berbers and is not linked to Slave Trade, it could mean, as Berbers have about 20% mtDna L, a NW African maternal contribution of about 15%. Note that if Berbers of the Middle Ages did not have such high frequency of L than modern Berbers it could mean an even more important contribution.


2) Portugal

For Continental Portugal, Ruth Barral-Arca et al reported an average of sub-Saharan mtDNA L lineages at 6.2% (88/1429).

But contrary to Spain, very likely some L are linked to Slave Trade.

Here is another table showing frequencies for mtDna L found (as well North African U6) in all Portuguese samples tested so far by different studies for different regions :

http://img15.hostingpics.net/pics/244543PortugalAfricanMtDna.jpg (http://www.hostingpics.net/viewer.php?id=244543PortugalAfricanMtDna.jpg)
Source:wikipedia

The mean frequency for mtDna L, typical for sub-Saharan populations (but also found on average at 20% in North Africans), reaches 6-7% in Portugal. Increasing frequencies are observed for northern Portugal (3.2%) through the center (7%) and to the south (12.5%, similar to Madeira). Azores frequency is similar to North Portugal.

Highest mtDna L frequency ever reported in Europe was found in South Portugal at 22% in Alcacer do Sal by Pereira et al 2010, Genetic Characterization of Uniparental Lineages in Populations from Southwest Iberia with Past Malaria Endemicity (http://www.ncbi.nlm.nih.gov/pubmed/20737604) in a sample of 50 non related individuals (11 different sequences : L1b1, L1c2, L2a, L2a1, L2a1a, L2b, L3d, L3d, L3e1a, L3e2, L3e2b). Here what the author writes about it :

"In Alcacer do Sal, the frequency of sub-Saharan mtDNA L lineages was the highest ever reported (22%) in Europe...The presence of Sub-Saharan maternal lineages in Alcacer do Sal is likely associated with the influx of African slaves between the 15th and 19th centuries"

"As for Alcacer do Sal, the exceptionally high frequency of L lineages (22%), two times greater than the frequency usually found in Portugal, is interesting... "

"Overall, the frequency of the sub-Saharan L types in Portugal is very high for the European context. Previous studies addressing this issue (Pereira et al., 2000) clearly demonstrated that this feature of the Portuguese maternal gene pool denotes the influx of African lineages that occurred during the Atlantic slave trade, a major modern human migration that lasted from the mid-15th century until the late-18th century. During this period, many enslaved Africans were brought to Portugal where, mainly in the south, they eventually composed more than 10% of the population (Lahon, 1999; Thomas, 1998)."

"In Alcacer do Sal, the remarkable sub-Saharan component denotes the demographic impact of African people whose presence in the region gained significance with the onset of the slave trade in the 15th century. By the 16th century, the whole Sado Basin, where Alcacer do Sal is located, had experienced an important African immigration as a way to compensate for the demographic deficit that accompanied the Portuguese Overseas Expansion. Later, in the 18th century, a new wave of slaves was recruited to Alcacer do Sal to work in salt production and rice cultivation, two important economic activities in the region (Cruz et al., 2001). Both activities are highly demanding in terms of need for labor and were carried out under an environment of endemic malaria that was eradicated only during middle 20th century. Hence, the immigration of African people into Alcacer do Sal might have intensified not only because of the demand for work but also because of their increased resistance to malarial infection; this intensification would explain why Alcacer do Sal has retained stronger signs of the forced African emigration than is observed elsewhere in Portugal. The African influence shapes the maternal and paternal pools of Alcacer do Sal differentially; this fact is widely documented in admixture events between Europeans and Africans. When such events involve the incorporation of African lineages in a prevailing European background, usually the maternal pool retains stronger signs of the assimilation of African lineages, as was indeed observed in Alcacer do Sal."

So very likely many of these L lineages were introduced in Portugal by Slave Trade and some by the Moors.

E_M81_I3A
03-17-2018, 07:53 PM
And just to add a large sample (n=750) from Andalucia from a study by Hernandez et al. 2015 that was not reported by Ruth Barral-Arca et 2016.

So for Andalucia it gives now a frequency of mtDna L =52/2003 = 2.60 % based on a BIG sample.

Although the absolute value of observed L frequency is low, it reveals a considerable North West African female contribution, if we keep in mind that haplogroup L is found at moderate frequency in North West Africa itself and virtually absent in the rest of Europe. Indeed, because the frequency in North West Africa is about 20% the estimated minimum input is 13% in Andalucia (minimum because as said previously Berbers of the Middle Ages very likely had less L than Modern Berbers as it increased during Islamic Slave Trade).

Also worth to mention that the vast majority of these L sequences are very unlikely to be prehistoric because so far only one L has been found out of more than 300 ancient samples from Iberia (0.3%). See for example The maternal genetic make-up of the Iberian Peninsula between the Neolithic and the Early Bronze Age (2017) (https://www.nature.com/articles/s41598-017-15480-9). : "The present study, based on 213 new and 125 published mtDNA data of prehistoric Iberian individuals...". Only one L (and no U6...) out of more than 300.

sweuro
03-18-2018, 12:44 AM
In Iberia we know it's of NW Africa origin (mostly) but how would you explain the presence of mtDNA L in other parts of Europe (except for South Italy) ?


Slovaks n = 2/207 0.97% Malyarchuk et al.2006

Czechs n = 1/279 0.36% Malyarchuk et al., 2008

German-Danish n = 1/161 0.62% Richards et al. 1996
Germany n = 1/335 0.30% Achilli et al 2007
Germany n = 4/333 1.20% Pliss et al. 2005

Albania n = 1/42 2.38% Belledi et al. 2000
Bosnia n=1/144 0.70% Achilli et al 2007
Bulgaria n=1/141 0.71% Achilli et al 2007
Balkans n= 1/556 0.18% Regueiro et al. 2012 + King et al. 2011


Poland n = 1/542 0.20% Achilli et al 2007
Poland n = 1/436 0.22% Malyarchuk et al., 2002
Poles n = 1/849 0.12% Malyarchuk et al., 2008


British n=1/100 1.00% Piercy et al. 1993
England n = 2/335 0.60% Achilli et al 2007
England n = 1/142 0.70% Helgason et al., 2001
Great Britain n = 1/114 0.90 % García et al. 2011
Scotland n = 1/891 0.10 % García et al. 2011


Finnish n = 1/50 2.00% Sajantila et al. 1995
Finland n = 1/121 0.83% Achilli et al 2007
Finns n = 3/580 0.52% Pliss et al. 2005


Norway n = 1/74 1.40% Passarino et al 2002
Norwegians n = 2/397 0.50% Pliss et al. 2005


Russia n = 2/683 0.29% Malyarchuk et al. 2008


France n = 1/332 0.30% Achilli et al 2007
France n = 5/692 0.72% Richards et al. 2007
France n = 3/433 0.69% García et al. 2011
France n = 2/320 0.63% Pliss et al. 2005
France 1.40% Gónzalez et al. 2003


Switzerland n=1/228 0.44% Achilli et al 2007


Crete, Greece n= 2/202 0.99% Achilli et al 2007


Italy n = 8/411 1.94% Plaza et al. 2003, Romano et al. 2003

NW Italy n = 100 2.00% Brisighelli et al. 2012

Sardinian n = 2/69 2.90% Di Rienzo and Wilson 1991
Sardinia n =2/370 0.54% Achilli et al 2007

Sicily n= 1/106 0.94% Cali et al. 2001
Sicily n = 2/105 1.90% Achilli et al 2007
Sicily n = 3/465 0.65% Plaza et al. 2003, Romano et al. 2003
South Italy n = 2/313 0.64% Boattini et al. 2013 + Stefania Sarno et al. 2014

Tuscany n= 6/322 1.86% Achilli et al 2007
Marche (Italy) n=8/813 0.98% Achilli et al 2007
Latium(Italy) n=4/138 2.90% Achilli et al 2007
Murlo (Italy) n = 1/86 1.16% Achilli et al 2007
Volterra (Italy) n = 3/114 2.63% Achilli et al 2007
Casentino (Italy) n = 2/122 1.64% Achilli et al 2007
Campania n = 3/313 0.32% Achilli et al 2007

GailT
03-20-2018, 02:06 AM
In Iberia we know it's of NW Africa origin (mostly) but how would you explain the presence of mtDNA L in other parts of Europe (except for South Italy)?

You would need to evaluate the full sequnce results for each sample to see if it might indicate a recent or more ancient migration from Africa.

vettor
04-20-2018, 10:33 PM
my first cousin mtdna R0 matches heavily with a female on Gedmatch who is L2a5 mtdna


L2a5 person results below
K13 Oracle ref data revised 21 Nov 2013

Admix Results (sorted):

# Population Percent
1 North_Atlantic 30.11
2 West_Med 22.27
3 East_Med 17.49
4 Baltic 8.27
5 West_Asian 7.67
6 Red_Sea 6.14
7 Northeast_African 3.90
8 Sub-Saharan 2.40
9 South_Asian 1.34


Finished reading population data. 204 populations found.
13 components mode.

--------------------------------

Least-squares method.

Using 1 population approximation:
1 North_Italian @ 8.084217
2 Tuscan @ 9.477249
3 Spanish_Extremadura @ 11.645799
4 Portuguese @ 12.069461
5 Spanish_Galicia @ 13.270027
6 Spanish_Murcia @ 13.291708
7 Spanish_Andalucia @ 13.476062
8 Spanish_Castilla_Y_Leon @ 14.383817
9 Spanish_Valencia @ 14.963557
10 West_Sicilian @ 15.108747
11 Spanish_Cataluna @ 15.203463
12 Spanish_Castilla_La_Mancha @ 15.273188
13 Italian_Abruzzo @ 15.578332
14 Greek_Thessaly @ 17.148172
15 Spanish_Cantabria @ 17.661657
16 French @ 18.397268
17 Spanish_Aragon @ 18.650606
18 Romanian @ 19.329809
19 East_Sicilian @ 19.755785
20 Bulgarian @ 20.044807

Using 2 populations approximation:
1 50% Italian_Abruzzo +50% Spanish_Galicia @ 5.199593


Using 3 populations approximation:
1 50% Spanish_Castilla_Y_Leon +25% Spanish_Galicia +25% Syrian @ 2.986956

Is L2a5 common in spain/iberia?


my cousin R0 mtdna results below
K13 Oracle ref data revised 21 Nov 2013

Admix Results (sorted):

# Population Percent
1 North_Atlantic 32.54
2 West_Med 23.09
3 East_Med 22.28
4 Baltic 13.62
5 West_Asian 5.44
6 Red_Sea 1.92


Finished reading population data. 204 populations found.
13 components mode.

--------------------------------

Least-squares method.

Using 1 population approximation:
1 North_Italian @ 4.618108
2 Tuscan @ 8.044857
3 Portuguese @ 11.483897
4 Spanish_Extremadura @ 12.231057
5 Spanish_Murcia @ 12.656609
6 Spanish_Valencia @ 12.809158
7 Spanish_Cataluna @ 13.374216
8 Spanish_Galicia @ 13.377862
9 Spanish_Andalucia @ 13.398174
10 Spanish_Castilla_Y_Leon @ 13.869735
11 Spanish_Castilla_La_Mancha @ 15.124769
12 West_Sicilian @ 15.771432
13 Greek_Thessaly @ 15.829866
14 Italian_Abruzzo @ 16.340574
15 Romanian @ 16.555750
16 French @ 16.558861
17 Spanish_Cantabria @ 17.015686
18 Bulgarian @ 17.291128
19 Spanish_Aragon @ 17.980345
20 Serbian @ 18.172825

Using 2 populations approximation:
1 50% Greek_Thessaly +50% Spanish_Valencia @ 4.163081


Using 3 populations approximation:
1 50% Ashkenazi +25% French_Basque +25% West_German @ 3.803848

martinchaide
04-29-2019, 10:54 AM
In Iberia we know it's of NW Africa origin (mostly) but how would you explain the presence of mtDNA L in other parts of Europe (except for South Italy) ?


Slovaks n = 2/207 0.97% Malyarchuk et al.2006

Czechs n = 1/279 0.36% Malyarchuk et al., 2008

German-Danish n = 1/161 0.62% Richards et al. 1996
Germany n = 1/335 0.30% Achilli et al 2007
Germany n = 4/333 1.20% Pliss et al. 2005

Albania n = 1/42 2.38% Belledi et al. 2000
Bosnia n=1/144 0.70% Achilli et al 2007
Bulgaria n=1/141 0.71% Achilli et al 2007
Balkans n= 1/556 0.18% Regueiro et al. 2012 + King et al. 2011


Poland n = 1/542 0.20% Achilli et al 2007
Poland n = 1/436 0.22% Malyarchuk et al., 2002
Poles n = 1/849 0.12% Malyarchuk et al., 2008


British n=1/100 1.00% Piercy et al. 1993
England n = 2/335 0.60% Achilli et al 2007
England n = 1/142 0.70% Helgason et al., 2001
Great Britain n = 1/114 0.90 % García et al. 2011
Scotland n = 1/891 0.10 % García et al. 2011


Finnish n = 1/50 2.00% Sajantila et al. 1995
Finland n = 1/121 0.83% Achilli et al 2007
Finns n = 3/580 0.52% Pliss et al. 2005


Norway n = 1/74 1.40% Passarino et al 2002
Norwegians n = 2/397 0.50% Pliss et al. 2005


Russia n = 2/683 0.29% Malyarchuk et al. 2008


France n = 1/332 0.30% Achilli et al 2007
France n = 5/692 0.72% Richards et al. 2007
France n = 3/433 0.69% García et al. 2011
France n = 2/320 0.63% Pliss et al. 2005
France 1.40% Gónzalez et al. 2003


Switzerland n=1/228 0.44% Achilli et al 2007


Crete, Greece n= 2/202 0.99% Achilli et al 2007


Italy n = 8/411 1.94% Plaza et al. 2003, Romano et al. 2003

NW Italy n = 100 2.00% Brisighelli et al. 2012

Sardinian n = 2/69 2.90% Di Rienzo and Wilson 1991
Sardinia n =2/370 0.54% Achilli et al 2007

Sicily n= 1/106 0.94% Cali et al. 2001
Sicily n = 2/105 1.90% Achilli et al 2007
Sicily n = 3/465 0.65% Plaza et al. 2003, Romano et al. 2003
South Italy n = 2/313 0.64% Boattini et al. 2013 + Stefania Sarno et al. 2014

Tuscany n= 6/322 1.86% Achilli et al 2007
Marche (Italy) n=8/813 0.98% Achilli et al 2007
Latium(Italy) n=4/138 2.90% Achilli et al 2007
Murlo (Italy) n = 1/86 1.16% Achilli et al 2007
Volterra (Italy) n = 3/114 2.63% Achilli et al 2007
Casentino (Italy) n = 2/122 1.64% Achilli et al 2007
Campania n = 3/313 0.32% Achilli et al 2007

except of Italy, the overall percentages are bellow 1%, so you can assume it is of prehistoric origin