Genetic history of the Iberian Peninsula
Encyclopedia
The ancestry of modern Iberians (Spanish and Portuguese) is consistent with the geographical situation of the Iberian Peninsula
in the south-west of Europe: there are strong connections with both Mediterranean Europe
and Atlantic Europe
.
, the Italians, the Irish
, the British
, the Germans
, and the Swiss
.
A 2007 European-wide study including Spanish Basques and Valencian Spaniards, found Iberian populations to cluster the furthest from other continental groups, implying that Iberia holds the most ancient European ancestry. In this study, the most prominent genetic stratification in Europe was found to run from the north to the south-east, while another important axis of differentiation runs east-west across the continent. It also found, despite the differences, that all Europeans are closely related.
A controversial study, published in January 2010, claimed that Europeans (including Spaniards and Portuguese) are of a nearly equal combination of the European hunter gatherers of the earlier Paleolithic
period and more recent Neolithic
period ancestry from the Near East, that likely came from Anatolia
. After initially focusing upon E1b1b as a Neolithic marker, the study looked at the male Y haplogroup R1b1b, which is much more common in Western Europe
. Mark Jobling said: "We focused on the commonest Y-chromosome lineage in Europe, carried by about 110 million men, it follows a gradient from south-east to north-west, reaching almost 100% frequency in Ireland. We looked at how the lineage is distributed, how diverse it is in different parts of Europe, and how old it is." The results suggested that the lineage R1b1b2 (R-M269)
, like E1b1b or J
lineages, spread together with farming from the Near East. Dr Patricia Balaresque added: "In total, this means that more than 80% of European Y chromosomes descend from incoming farmers. In contrast, most maternal genetic lineages seem to descend from hunter-gatherers. To us, this suggests a reproductive advantage for farming males over indigenous hunter-gatherer males during the switch from hunting and gathering, to farming". Previous Y-chromosome and mtDNA analysis had suggested Paleolithic
ancestry among populations in the Iberian Peninsula and that Iberia may have played a role in the re-population of western Europe after the last glaciation. Although this methodology does not provide strong inferences on genetic population structure, it is useful in tracing parts of the routes of migration in the populating of Europe. Both Y-chromosome haplogroup R1b
and mitochondrial haplogroup H, reach frequencies above 60% in most of Iberia
, R1b peaking at 90% in the Basque region. This shows an ancestral bond between Iberia and the rest of western Europe
, and in particular with Atlantic Europe
, which share high frequencies of these haplogroups. R1b1b2, the most common western European haplogroup, arose 4,000 to 8,000 years ago in southwest Asia and later spread to Europe.
However, a study by Laura Morelli et al. found the assumptions and conclusions flawed and demonstrated that cultural, not demic, diffusion was the main means by which agriculture was spread in Europe in the Neolithic period: "A recent network analysis of the R-M269 Y chromosome lineage has purportedly corroborated Neolithic expansion from Anatolia, the site of diffusion of agriculture. However, the data are still controversial and the analyses so far performed are prone to a number of biases. In the present study we show that the addition of a single marker, DYSA7.2, dramatically changes the shape of the R-M269 network into a topology showing a clear Western-Eastern dichotomy not consistent with a radial diffusion of people from the Middle East. We have also assessed other Y-chromosome haplogroups proposed to be markers of the Neolithic diffusion of farmers and compared their intra-lineage variation—defined by short tandem repeats (STRs)—in Anatolia and in Sardinia, the only Western population where these lineages are present at appreciable frequencies and where there is substantial archaeological and genetic evidence of pre-Neolithic human occupation. The data indicate that Sardinia does not contain a subset of the variability present in Anatolia and that the shared variability between these populations is best explained by an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool. Overall, these results are consistent with the cultural diffusion and do not support the demic model of agriculture diffusion.
According to one study, the main components in the European genomes appear to derive from ancestors whose features were similar to those of modern Basques and Near Easterners, with average values greater than 35% for both these parental populations, regardless of whether or not molecular information is taken into account. The lowest degree of both Basque and Near Eastern admixture is found in Finland, whereas the highest values are, respectively, 80% ("Basque") in Spain and roughly 70% ("Near Eastern") in the Balkans.
Autosomal studies using a small number of classical genetic markers, supported by more recent analysis of Microsatellite data, have lent support for a large Neolithic
element in the European genome, supporting the demic diffusion
model from the ancient Near East
. This Neolithic component has also been detected at substantial levels in Spain, albeit at lower levels than in other European countries. Broad gradients across Europe, largely on South East/North West cline using a small number of classical genetic markers would thus link the populations of Western Europe (including Iberia) by a common "paleolithic" ancestry and those of eastern (and particularly south eastern) Europe by a common "neolithic" ancestry Haplogroup composition of the ancient Iberians was very similar to that found in the modern Iberian Peninsula populations, suggesting a long-term genetic continuity since pre-Roman times.
In January 2009, a study by Capelli et al. Spanish individuals found the total contribution of specific North African male haplotypes in Spain as 7.7%.
According to a widely publicized recent study (December 2008) published in the American Journal of Human Genetics
, 19.8 percent of modern Iberians (Spain + Portugal) have DNA reflecting Levantine (possibly Sephardic Jewish ancestry) and 10.6 percent having DNA reflecting Moorish ancestors. The study's speculation on Sephardic origin of the Levantine markers has been widely contested since it is likely that such markers also reflect other migrations from the Near East such as what medieval Andalusians called "Syrians", earlier Phoenician colonization or even population movements during the Neolithic. On the other hand, Chris Tyler-Smith, a collaborator with the team that carried the study, argues that the individual differences in Y-chromosome markers suggest that Iberians and Sephardic Jews must share ancestry more recent than several millennia, even though in also a recent study (October 2008) they attributed those same lineages in Iberia and the Balearic Islands as of Phoenicia
n origin.
A 2007 study (published 2007) had estimated the contribution of northern African lineages to the entire male gene pool of Iberia as 5.6%." Earlier Europe-wide genetic studies focusing had found no significant correlation between North African admixture and geography concluding genetic exchanges in the westernmost part of the Mediterranean to be been limited or very limited and establishing the North African contribution at 2.5% to 3.4%.
An earlier European-wide study had pointed to a small North African and Arab element in modern day Iberian ancestry when compared to the pre-Islamic ancestral basis, and the Gibraltar Strait seems to have functioned much more as a genetic barrier than a bridge.
n ancestry in Spain was 2.4% consistent with the historically known movement of individuals of North African ancestry into Spain, although it is possible that this estimate also reflects a wider range of mixture times.
MtDNA Haplogroup L
lineages are relatively infrequent (1% or less) throughout Europe with the exception of Iberia
where frequencies as high as 22% have been reported and some regions of Italy
where frequencies between 2 and 3% have been found.
In Iberia
the mean frequency of Haplogroup L lineages reaches 3.83% and the frequency is higher in Portugal
(5.83%) than in Spain
(2.90%) and without parallel in the rest of Europe. Furthermore, in western Iberia, increasing frequencies are observed for Galicia (3.26%) and northern Portugal (3.21%), through the center (5.02%) and to the south of Portugal
(11.38%). Significant frequencies were also found in the Autonomous regions of Portugal
, with L haplogroups constituting about 13% of the lineages in Madeira
, significantly more than in the Azores
. In the Spanish archipelago of Canary Islands
, frequencies have been reported at 6.6%. Regarding Iberia, current debates are concerned with whether these lineages are associated with prehistoric migrations, the Islamic occupation of Iberia or the slave trade. suggested that African lineages in Iberia were predominantly the result of Atlantic Slave Trade. revealed that most of the L lineages in Iberia matched Northwest African L lineages rather than contemporary Sub-Saharan L lineages. The authors suggest this pattern indicates that most of the Sub-Saharan L lineages entered Iberia in prehistoric times rather than during the slave trade. According to , the sub-Saharan lineages found in Iberia matched lineages from diverse regions in Africa. They suggest this pattern is more compatible with recent arrival of these lineages after slave trading began in the 15th century. According to the study, alternative scenarios that invoke much older and demographically more significant introductions or that claim a substantial role of the Roman and/or Islamic periods on the introduction of sub-Saharan lineages seem unlikely. extracted DNA from human remains that were exhumed from old burial sites in Al-Andalus
, Spain. The remains date to between 12th-13th century. The frequency of Sub-Saharan lineages detected in the medieval samples was 14.6% and 8.3% in the present population of Priego de Cordoba
. The authors suggest the Muslim occupation
and prehistoric migrations before the Muslim occupation would have been the source of these lineages. The highest frequencies of Sub-Saharan lineages found so far in Europe were observed by Alvarez et al. 2010 in the comarca
of Sayago
(18.2%) which is according to the authors "comparable to that described for the South of Portugal" and by Pereira et al. 2010 in Alcacer do Sal (22%).
, hold a gene pool that is halfway between the Iberians and the ancient native population, the Guanches
(a proto-Berber population), although with a major Iberian contribution. Guanche genetic markers have also been found, at low frequencies, in peninsular Spain, probably as a result of slavery and/or later immigration from the Canary Islands. MmtDna haplogroup U6 was found at rate of 14% in the present-day Canary Islands populations reflecting the Berber origin of the Guanches
, the aboriginal population of the Canary Islands. In this study they compared aboriginal Guanche mtDNA (collected from Canarian archaeological sites) to that of today's Canarians and concluded that, "despite the continuous changes suffered by the population (Spanish colonization, slave trade), aboriginal mtDNA lineages constitute a considerable proportion [42–73%] of the Canarian gene pool". MtDNA haplogroup L were also found at rate of 6.6% and E-M81 at a mean rate of 8.28% with frequencies over 10% in the three largest islands of Tenerife
(10.68%), Gran Canaria
(11.54%) and Fuerteventura
(13.33%). According to Fregel et al. 2009 the presence of autochthonous North African E-M81 lineages, and also other relatively abundant markers (E-M78 and J-M267) from the same region in the indigenous Guanche population, "strongly points to that area [North Africa] as the most probable origin of the Guanche ancestors". In this study, they estimated that, based on Y-chromosome and mtDNA haplogroup frequencies, the relative female and male indigenous Guanche contributions to the present-day Canary Islands populations were respectively of 41.8% and 16.1%.
Iberian Peninsula
The Iberian Peninsula , sometimes called Iberia, is located in the extreme southwest of Europe and includes the modern-day sovereign states of Spain, Portugal and Andorra, as well as the British Overseas Territory of Gibraltar...
in the south-west of Europe: there are strong connections with both Mediterranean Europe
Southern Europe
The term Southern Europe, at its most general definition, is used to mean "all countries in the south of Europe". However, the concept, at different times, has had different meanings, providing additional political, linguistic and cultural context to the definition in addition to the typical...
and Atlantic Europe
Atlantic Europe
Atlantic Europe is a geographical and anthropological term for the western portion of Europe which borders the Atlantic Ocean. The term may refer to the idea of Atlantic Europe as a cultural unit and/or as an biogeographical region....
.
Links with other European populations
DNA analysis shows that the Spanish and Portuguese are most closely related to other populations of western Europe: the FrenchFrench people
The French are a nation that share a common French culture and speak the French language as a mother tongue. Historically, the French population are descended from peoples of Celtic, Latin and Germanic origin, and are today a mixture of several ethnic groups...
, the Italians, the Irish
Irish people
The Irish people are an ethnic group who originate in Ireland, an island in northwestern Europe. Ireland has been populated for around 9,000 years , with the Irish people's earliest ancestors recorded having legends of being descended from groups such as the Nemedians, Fomorians, Fir Bolg, Tuatha...
, the British
United Kingdom
The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages...
, the Germans
Germans
The Germans are a Germanic ethnic group native to Central Europe. The English term Germans has referred to the German-speaking population of the Holy Roman Empire since the Late Middle Ages....
, and the Swiss
Swiss (people)
The Swiss are citizens or natives of Switzerland. The demonym derives from the toponym of Schwyz and has been in widespread use to refer to the Old Swiss Confederacy since the 16th century....
.
A 2007 European-wide study including Spanish Basques and Valencian Spaniards, found Iberian populations to cluster the furthest from other continental groups, implying that Iberia holds the most ancient European ancestry. In this study, the most prominent genetic stratification in Europe was found to run from the north to the south-east, while another important axis of differentiation runs east-west across the continent. It also found, despite the differences, that all Europeans are closely related.
A controversial study, published in January 2010, claimed that Europeans (including Spaniards and Portuguese) are of a nearly equal combination of the European hunter gatherers of the earlier Paleolithic
Paleolithic
The Paleolithic Age, Era or Period, is a prehistoric period of human history distinguished by the development of the most primitive stone tools discovered , and covers roughly 99% of human technological prehistory...
period and more recent Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
period ancestry from the Near East, that likely came from Anatolia
Anatolia
Anatolia is a geographic and historical term denoting the westernmost protrusion of Asia, comprising the majority of the Republic of Turkey...
. After initially focusing upon E1b1b as a Neolithic marker, the study looked at the male Y haplogroup R1b1b, which is much more common in Western Europe
Western Europe
Western Europe is a loose term for the collection of countries in the western most region of the European continents, though this definition is context-dependent and carries cultural and political connotations. One definition describes Western Europe as a geographic entity—the region lying in the...
. Mark Jobling said: "We focused on the commonest Y-chromosome lineage in Europe, carried by about 110 million men, it follows a gradient from south-east to north-west, reaching almost 100% frequency in Ireland. We looked at how the lineage is distributed, how diverse it is in different parts of Europe, and how old it is." The results suggested that the lineage R1b1b2 (R-M269)
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....
, like E1b1b or J
Haplogroup J (Y-DNA)
In human genetics, Haplogroup J is a Y-chromosome DNA haplogroup. It is one of the major male lines of all living men...
lineages, spread together with farming from the Near East. Dr Patricia Balaresque added: "In total, this means that more than 80% of European Y chromosomes descend from incoming farmers. In contrast, most maternal genetic lineages seem to descend from hunter-gatherers. To us, this suggests a reproductive advantage for farming males over indigenous hunter-gatherer males during the switch from hunting and gathering, to farming". Previous Y-chromosome and mtDNA analysis had suggested Paleolithic
Paleolithic
The Paleolithic Age, Era or Period, is a prehistoric period of human history distinguished by the development of the most primitive stone tools discovered , and covers roughly 99% of human technological prehistory...
ancestry among populations in the Iberian Peninsula and that Iberia may have played a role in the re-population of western Europe after the last glaciation. Although this methodology does not provide strong inferences on genetic population structure, it is useful in tracing parts of the routes of migration in the populating of Europe. Both Y-chromosome haplogroup R1b
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....
and mitochondrial haplogroup H, reach frequencies above 60% in most of Iberia
Iberian Peninsula
The Iberian Peninsula , sometimes called Iberia, is located in the extreme southwest of Europe and includes the modern-day sovereign states of Spain, Portugal and Andorra, as well as the British Overseas Territory of Gibraltar...
, R1b peaking at 90% in the Basque region. This shows an ancestral bond between Iberia and the rest of western Europe
Western Europe
Western Europe is a loose term for the collection of countries in the western most region of the European continents, though this definition is context-dependent and carries cultural and political connotations. One definition describes Western Europe as a geographic entity—the region lying in the...
, and in particular with Atlantic Europe
Atlantic Europe
Atlantic Europe is a geographical and anthropological term for the western portion of Europe which borders the Atlantic Ocean. The term may refer to the idea of Atlantic Europe as a cultural unit and/or as an biogeographical region....
, which share high frequencies of these haplogroups. R1b1b2, the most common western European haplogroup, arose 4,000 to 8,000 years ago in southwest Asia and later spread to Europe.
However, a study by Laura Morelli et al. found the assumptions and conclusions flawed and demonstrated that cultural, not demic, diffusion was the main means by which agriculture was spread in Europe in the Neolithic period: "A recent network analysis of the R-M269 Y chromosome lineage has purportedly corroborated Neolithic expansion from Anatolia, the site of diffusion of agriculture. However, the data are still controversial and the analyses so far performed are prone to a number of biases. In the present study we show that the addition of a single marker, DYSA7.2, dramatically changes the shape of the R-M269 network into a topology showing a clear Western-Eastern dichotomy not consistent with a radial diffusion of people from the Middle East. We have also assessed other Y-chromosome haplogroups proposed to be markers of the Neolithic diffusion of farmers and compared their intra-lineage variation—defined by short tandem repeats (STRs)—in Anatolia and in Sardinia, the only Western population where these lineages are present at appreciable frequencies and where there is substantial archaeological and genetic evidence of pre-Neolithic human occupation. The data indicate that Sardinia does not contain a subset of the variability present in Anatolia and that the shared variability between these populations is best explained by an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool. Overall, these results are consistent with the cultural diffusion and do not support the demic model of agriculture diffusion.
According to one study, the main components in the European genomes appear to derive from ancestors whose features were similar to those of modern Basques and Near Easterners, with average values greater than 35% for both these parental populations, regardless of whether or not molecular information is taken into account. The lowest degree of both Basque and Near Eastern admixture is found in Finland, whereas the highest values are, respectively, 80% ("Basque") in Spain and roughly 70% ("Near Eastern") in the Balkans.
Autosomal studies using a small number of classical genetic markers, supported by more recent analysis of Microsatellite data, have lent support for a large Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
element in the European genome, supporting the demic diffusion
Demic diffusion
Demic diffusion is a demographic term referring to a migratory model developed by Cavalli-Sforza, that consists of population diffusion into and across an area previously uninhabited by that group, possibly, but not necessarily, displacing, replacing, or intermixing with a pre-existing population...
model from the ancient Near East
Near East
The Near East is a geographical term that covers different countries for geographers, archeologists, and historians, on the one hand, and for political scientists, economists, and journalists, on the other...
. This Neolithic component has also been detected at substantial levels in Spain, albeit at lower levels than in other European countries. Broad gradients across Europe, largely on South East/North West cline using a small number of classical genetic markers would thus link the populations of Western Europe (including Iberia) by a common "paleolithic" ancestry and those of eastern (and particularly south eastern) Europe by a common "neolithic" ancestry Haplogroup composition of the ancient Iberians was very similar to that found in the modern Iberian Peninsula populations, suggesting a long-term genetic continuity since pre-Roman times.
North Africa
A number of studies focus on the genetic impact of the centuries of Muslim rule in the Iberian peninsula on the genetic make up of the modern Iberian population. Iberia has the greatest presence of the typically Northwest African Y-chromosome haplotype marker E-M81 in Europe. and Haplotype Va. A thorough Y-chromosome analysis of the Iberian peninsula reveals that haplotype E-M81 surpasses frequencies of 10% in Southern Iberia. As for Mtdna analysis (Mitochondrial DNA), although present at only low levels, Iberia has much higher frequencies of typically North African Haplogroup U6 than those generally observed in Europe. It is difficult to ascertain whether U6's presence is the consequence of Islam's expansion into Europe during the Middle Ages, or it is rather the result of ancient demic processes that predate the Islamic presence.In January 2009, a study by Capelli et al. Spanish individuals found the total contribution of specific North African male haplotypes in Spain as 7.7%.
According to a widely publicized recent study (December 2008) published in the American Journal of Human Genetics
American Journal of Human Genetics
The American Journal of Human Genetics is a medical journal in the field of human genetics. Since its inception in 1948 by the American Society of Human Genetics, the journal has provided a record of research and review relating to heredity in humans and to the application of genetic principles in...
, 19.8 percent of modern Iberians (Spain + Portugal) have DNA reflecting Levantine (possibly Sephardic Jewish ancestry) and 10.6 percent having DNA reflecting Moorish ancestors. The study's speculation on Sephardic origin of the Levantine markers has been widely contested since it is likely that such markers also reflect other migrations from the Near East such as what medieval Andalusians called "Syrians", earlier Phoenician colonization or even population movements during the Neolithic. On the other hand, Chris Tyler-Smith, a collaborator with the team that carried the study, argues that the individual differences in Y-chromosome markers suggest that Iberians and Sephardic Jews must share ancestry more recent than several millennia, even though in also a recent study (October 2008) they attributed those same lineages in Iberia and the Balearic Islands as of Phoenicia
Phoenicia
Phoenicia , was an ancient civilization in Canaan which covered most of the western, coastal part of the Fertile Crescent. Several major Phoenician cities were built on the coastline of the Mediterranean. It was an enterprising maritime trading culture that spread across the Mediterranean from 1550...
n origin.
A 2007 study (published 2007) had estimated the contribution of northern African lineages to the entire male gene pool of Iberia as 5.6%." Earlier Europe-wide genetic studies focusing had found no significant correlation between North African admixture and geography concluding genetic exchanges in the westernmost part of the Mediterranean to be been limited or very limited and establishing the North African contribution at 2.5% to 3.4%.
An earlier European-wide study had pointed to a small North African and Arab element in modern day Iberian ancestry when compared to the pre-Islamic ancestral basis, and the Gibraltar Strait seems to have functioned much more as a genetic barrier than a bridge.
Sub-Saharan Africa
In 2009, an autosomal study by Moorjani et al. that used about 500k-1.5 million SNPs estimated that the proportion of sub-Saharan AfricaSub-Saharan Africa
Sub-Saharan Africa as a geographical term refers to the area of the African continent which lies south of the Sahara. A political definition of Sub-Saharan Africa, instead, covers all African countries which are fully or partially located south of the Sahara...
n ancestry in Spain was 2.4% consistent with the historically known movement of individuals of North African ancestry into Spain, although it is possible that this estimate also reflects a wider range of mixture times.
MtDNA Haplogroup L
Macro-haplogroup L (mtDNA)
In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans....
lineages are relatively infrequent (1% or less) throughout Europe with the exception of Iberia
Iberia
The name Iberia refers to three historical regions of the old world:* Iberian Peninsula, in Southwest Europe, location of modern-day Portugal and Spain** Prehistoric Iberia...
where frequencies as high as 22% have been reported and some regions of Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
where frequencies between 2 and 3% have been found.
In Iberia
Iberia
The name Iberia refers to three historical regions of the old world:* Iberian Peninsula, in Southwest Europe, location of modern-day Portugal and Spain** Prehistoric Iberia...
the mean frequency of Haplogroup L lineages reaches 3.83% and the frequency is higher in Portugal
Portugal
Portugal , officially the Portuguese Republic is a country situated in southwestern Europe on the Iberian Peninsula. Portugal is the westernmost country of Europe, and is bordered by the Atlantic Ocean to the West and South and by Spain to the North and East. The Atlantic archipelagos of the...
(5.83%) than in Spain
Spain
Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula...
(2.90%) and without parallel in the rest of Europe. Furthermore, in western Iberia, increasing frequencies are observed for Galicia (3.26%) and northern Portugal (3.21%), through the center (5.02%) and to the south of Portugal
Portugal
Portugal , officially the Portuguese Republic is a country situated in southwestern Europe on the Iberian Peninsula. Portugal is the westernmost country of Europe, and is bordered by the Atlantic Ocean to the West and South and by Spain to the North and East. The Atlantic archipelagos of the...
(11.38%). Significant frequencies were also found in the Autonomous regions of Portugal
Autonomous regions of Portugal
The two Autonomous Regions of Portugal are the Azores and Madeira...
, with L haplogroups constituting about 13% of the lineages in Madeira
Madeira
Madeira is a Portuguese archipelago that lies between and , just under 400 km north of Tenerife, Canary Islands, in the north Atlantic Ocean and an outermost region of the European Union...
, significantly more than in the Azores
Azores
The Archipelago of the Azores is composed of nine volcanic islands situated in the middle of the North Atlantic Ocean, and is located about west from Lisbon and about east from the east coast of North America. The islands, and their economic exclusion zone, form the Autonomous Region of the...
. In the Spanish archipelago of Canary Islands
Canary Islands
The Canary Islands , also known as the Canaries , is a Spanish archipelago located just off the northwest coast of mainland Africa, 100 km west of the border between Morocco and the Western Sahara. The Canaries are a Spanish autonomous community and an outermost region of the European Union...
, frequencies have been reported at 6.6%. Regarding Iberia, current debates are concerned with whether these lineages are associated with prehistoric migrations, the Islamic occupation of Iberia or the slave trade. suggested that African lineages in Iberia were predominantly the result of Atlantic Slave Trade. revealed that most of the L lineages in Iberia matched Northwest African L lineages rather than contemporary Sub-Saharan L lineages. The authors suggest this pattern indicates that most of the Sub-Saharan L lineages entered Iberia in prehistoric times rather than during the slave trade. According to , the sub-Saharan lineages found in Iberia matched lineages from diverse regions in Africa. They suggest this pattern is more compatible with recent arrival of these lineages after slave trading began in the 15th century. According to the study, alternative scenarios that invoke much older and demographically more significant introductions or that claim a substantial role of the Roman and/or Islamic periods on the introduction of sub-Saharan lineages seem unlikely. extracted DNA from human remains that were exhumed from old burial sites in Al-Andalus
Al-Andalus
Al-Andalus was the Arabic name given to a nation and territorial region also commonly referred to as Moorish Iberia. The name describes parts of the Iberian Peninsula and Septimania governed by Muslims , at various times in the period between 711 and 1492, although the territorial boundaries...
, Spain. The remains date to between 12th-13th century. The frequency of Sub-Saharan lineages detected in the medieval samples was 14.6% and 8.3% in the present population of Priego de Cordoba
Priego de Córdoba
Priego de Córdoba is a town and municipality of southern Spain in the extreme southeastern portion of the province of Córdoba, near the headwater of the Guadajoz River, and on the northern slope of the Sierra de Priego. The population in 2008 was 22,558....
. The authors suggest the Muslim occupation
Umayyad conquest of Hispania
The Umayyad conquest of Hispania is the initial Islamic Ummayad Caliphate's conquest, between 711 and 718, of the Christian Visigothic Kingdom of Hispania, centered in the Iberian Peninsula, which was known to them under the Arabic name al-Andalus....
and prehistoric migrations before the Muslim occupation would have been the source of these lineages. The highest frequencies of Sub-Saharan lineages found so far in Europe were observed by Alvarez et al. 2010 in the comarca
Comarca
A comarca is a traditional region or local administrative division found in parts of Spain, Portugal, Panama, Nicaragua, and Brazil. The term is derived from the term marca, meaning a "march, mark", plus the prefix co- meaning "together, jointly".The comarca is known in Aragonese as redolada and...
of Sayago
Sayago
Sayago is a comarca in the province of Zamora, central Spain.- Geography :The comarca is located at the southwest of the Zamora province. The main geographical characteristic is the isolation caused by the Duero and Tormes rivers canyons...
(18.2%) which is according to the authors "comparable to that described for the South of Portugal" and by Pereira et al. 2010 in Alcacer do Sal (22%).
Canary Islands
The inhabitants of the Canary IslandsCanary Islands
The Canary Islands , also known as the Canaries , is a Spanish archipelago located just off the northwest coast of mainland Africa, 100 km west of the border between Morocco and the Western Sahara. The Canaries are a Spanish autonomous community and an outermost region of the European Union...
, hold a gene pool that is halfway between the Iberians and the ancient native population, the Guanches
Guanches
Guanches is the name given to the aboriginal Berber inhabitants of the Canary Islands. It is believed that they migrated to the archipelago sometime between 1000 BCE and 100 BCE or perhaps earlier...
(a proto-Berber population), although with a major Iberian contribution. Guanche genetic markers have also been found, at low frequencies, in peninsular Spain, probably as a result of slavery and/or later immigration from the Canary Islands. MmtDna haplogroup U6 was found at rate of 14% in the present-day Canary Islands populations reflecting the Berber origin of the Guanches
Guanches
Guanches is the name given to the aboriginal Berber inhabitants of the Canary Islands. It is believed that they migrated to the archipelago sometime between 1000 BCE and 100 BCE or perhaps earlier...
, the aboriginal population of the Canary Islands. In this study they compared aboriginal Guanche mtDNA (collected from Canarian archaeological sites) to that of today's Canarians and concluded that, "despite the continuous changes suffered by the population (Spanish colonization, slave trade), aboriginal mtDNA lineages constitute a considerable proportion [42–73%] of the Canarian gene pool". MtDNA haplogroup L were also found at rate of 6.6% and E-M81 at a mean rate of 8.28% with frequencies over 10% in the three largest islands of Tenerife
Tenerife
Tenerife is the largest and most populous island of the seven Canary Islands, it is also the most populated island of Spain, with a land area of 2,034.38 km² and 906,854 inhabitants, 43% of the total population of the Canary Islands. About five million tourists visit Tenerife each year, the...
(10.68%), Gran Canaria
Gran Canaria
Gran Canaria is the second most populous island of the Canary Islands, with a population of 838,397 which constitutes approximately 40% of the population of the archipelago...
(11.54%) and Fuerteventura
Fuerteventura
Fuerteventura , a Spanish island, is one of the Canary Islands, in the Atlantic Ocean off the coast of Africa. It is situated at 28°20' north, 14°00' west. At 1,660 km² it is the second largest of the Canary Islands, after Tenerife...
(13.33%). According to Fregel et al. 2009 the presence of autochthonous North African E-M81 lineages, and also other relatively abundant markers (E-M78 and J-M267) from the same region in the indigenous Guanche population, "strongly points to that area [North Africa] as the most probable origin of the Guanche ancestors". In this study, they estimated that, based on Y-chromosome and mtDNA haplogroup frequencies, the relative female and male indigenous Guanche contributions to the present-day Canary Islands populations were respectively of 41.8% and 16.1%.