Genetic history of North Africa
Encyclopedia
The population genetics of North Africans has been heavily influenced by geography.
The Sahara desert to the south and the Mediterranean Sea to the North were important barriers to gene flow in prehistoric times. However Eurasia and Africa form a single land mass at the Suez
Suez
Suez is a seaport city in north-eastern Egypt, located on the north coast of the Gulf of Suez , near the southern terminus of the Suez Canal, having the same boundaries as Suez governorate. It has three harbors, Adabya, Ain Sokhna and Port Tawfiq, and extensive port facilities...

. At the Straits of Gibraltar, Africa and Europe are separated by only 15 km (9 mi). At periods of low sea-levels, such as during a glacial maximum, islands that are currently submerged would appear in the Mediterranean and possibly in between the Gibraltar straits. These may have encouraged humans to "island hop" between Africa and Europe. During wetter phases
Sahara pump theory
The Sahara pump theory is a hypothesis that explains how flora and fauna migrated between Eurasia and Africa via a Levantine land bridge. The theory observes that extended periods of abundant rainfall lasting many thousands of years in Africa are associated with a "wet Sahara" phase, during which...

 of the Sahara, Sub-Saharan Africans would have expanded into North Africa. West Asian populations would have also been attracted to a wet Sahara. West Asian populations could also migrate into Africa via the coastal regions of the Mediterranean.

As a result of these geographic influences, the genetic profile of Berber populations
Berber people
Berbers are the indigenous peoples of North Africa west of the Nile Valley. They are continuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke the Berber language or varieties of it, which together form a branch...

 is a complex mosaic of European, Sub-Saharan African and West Asian influences. Though North Africa has experienced gene-flow from the surrounding regions, it has also experienced long periods of genetic isolation, allowing a distinctive genetic markers to evolve in Berber populations.

Current scientific debate is concerned with determining the relative contributions of different periods of gene flow to the current gene pool of North Africans. Anatomically modern humans are known to have been present in North Africa during the Upper Paleolithic
Upper Paleolithic
The Upper Paleolithic is the third and last subdivision of the Paleolithic or Old Stone Age as it is understood in Europe, Africa and Asia. Very broadly it dates to between 40,000 and 10,000 years ago, roughly coinciding with the appearance of behavioral modernity and before the advent of...

 45,000 years ago as attested by the Aterian culture
Aterian
The Aterian industry is a name given by archaeologists to a type of stone tool manufacturing dating to the Middle Stone Age in the region around the Atlas Mountains and the northern Sahara, it refers the site of Bir el Ater, south of Annaba.The industry was probably created by modern humans ,...

. With no apparent continuity, 22,000 years ago, the Aterian was succeeded by the Iberomaurusian
Iberomaurusian
The Iberomaurusian culture is a backed bladelet industry found throughout the Maghreb. The industry was originally described in 1909 by the French scholar Pallary, at the site of Abri Mouillah...

 culture which shared similarities with Iberian cultures. The Iberomaurusian was succeeded by the Capsian, a pre-neolithic culture. About 9,000 years ago the Saharan entered a wet phase which attracted Neolithic peoples from the Near East and Sub-Saharan Africans. In historic times, North Africa was occupied by several peoples including Phoenicians (814–146 BCE), Romans (146 BCE–439 CE), Vandals (439–534 CE),and Byzantines (534–647 CE). In the 7th Century a migration of Bedouin peoples from the Arabian peninsula brought Arabic languages into North Africa.

Y-chromosome

Haplogroup E
Haplogroup E (Y-DNA)
In human genetics, Haplogroup E is a human Y-chromosome DNA haplogroup. Haplogroup E is one of the two main branches of the older Haplogroup DE, the other main branch being haplogroup D. The E clade is divided into two subclades: E1 and E2 .-Origins:Underhill et al. proposed that haplogroup E...

 is the most prevalent haplogroup amongst the Berbers accounting for up to 87 percent of Y-chromosomes among some Berber populations. Haplogroup E is thought to have emerged in East-Africa and would have later dispersed into North Africa and Eurasia. The major sub-clades of haplogroup E found amongst Berbers belong to E1b1b1 which is believed to have emerged in East Africa. Common subclades include, E1b1b1a, E1b1b1b and E1b1b1*. E1b1b1b is distributed along a west-to-east cline with frequencies which can reach as high as 80 percent in Northwest Africa. E1b1b1a has been observed at low to moderate frequencies among Berber populations with significantly higher frequencies observed in Northeast Africa relative to Northwest Africa.

Eurasian haplogroups such as Haplogroup J and Haplogroup R1 have also been observed at moderate frequencies. A thorough study by Arredi et al. (2004) which analyzed populations from Algeria concludes that the North African pattern of Y-chromosomal variation (including both J1
Haplogroup J1 (Y-DNA)
In human genetics, Y DNA haplogroup J1, also known as J-M267, is a sub-haplogroup of Y DNA haplogroup J, along with its sibling clade Y DNA haplogroup J2. Men with this type of Y DNA share a common paternal ancestry, which is demonstrated and defined by the presence of the SNP mutation referred to...

 and E3b2 main haplogroups) is largely of Neolithic origin, which suggests that the Neolithic transition in this part of the world was accompanied by demic diffusion of Berber–speaking pastoralists from the Middle East

E1b1b1b (E-M81); formerly E3b1b, E3b2

E1b1b1b (E-M81) is the most common Y chromosome haplogroup
Haplogroup
In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...

 in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...

, dominated by its sub-clade E-M183. It is thought to have originated in North Afric. 5,600 years ago. The parent clade E1b1b originated in East Africa. Colloquially referred to as the Berber marker for its prevalence among Mozabite, Middle Atlas
Middle Atlas
The Middle Atlas is part of the Atlas mountain range lying in Morocco, a mountainous country with more than 100,000 km² or 15% of its landmass rising above 2,000 metres. The Middle Atlas is the northernmost of three Atlas Mountains chains that define a large plateaued basin extending eastward...

, Kabylian
Kabyle people
The Kabyle people are the largest homogeneous Algerian ethno-cultural and linguistical community and the largest nation in North Africa to be considered exclusively Berber. Their traditional homeland is Kabylie in the north of Algeria, one hundred miles east of Algiers...

 and other Amazigh groups, E-M81 is also quite common among North African groups. It reaches frequencies of up to 80 percent in some parts of the Maghreb
Maghreb
The Maghreb is the region of Northwest Africa, west of Egypt. It includes five countries: Morocco, Algeria, Tunisia, Libya, and Mauritania and the disputed territory of Western Sahara...

. This includes the Saharawish for whose men reports that approximately 76 percent are M81+.

This haplogroup is also found of some amounts in the Iberian Peninsula
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...

, probably due to ancient migrations during the Islamic
Islam in Europe
This article deals with the history and evolution of the presence of Islam in Europe. According to the German , the total number of Muslims in Europe in 2007 was about 53 million , excluding Turkey. The total number of Muslims in the European Union in 2007 was about 16 million .-Early history:Islam...

, Roman
Roman Empire
The Roman Empire was the post-Republican period of the ancient Roman civilization, characterised by an autocratic form of government and large territorial holdings in Europe and around the Mediterranean....

, and Carthaginian
Carthage
Carthage , implying it was a 'new Tyre') is a major urban centre that has existed for nearly 3,000 years on the Gulf of Tunis, developing from a Phoenician colony of the 1st millennium BC...

 empires, as well as the influence of Sephardic Jews
Jews
The Jews , also known as the Jewish people, are a nation and ethnoreligious group originating in the Israelites or Hebrews of the Ancient Near East. The Jewish ethnicity, nationality, and religion are strongly interrelated, as Judaism is the traditional faith of the Jewish nation...

. In Iberia generally it is more common than E1b1b1a (E-M78), unlike in the rest of Europe, and as a result this E-M81 is found throughout Latin America
Latin America
Latin America is a region of the Americas where Romance languages  – particularly Spanish and Portuguese, and variably French – are primarily spoken. Latin America has an area of approximately 21,069,500 km² , almost 3.9% of the Earth's surface or 14.1% of its land surface area...

 and among Hispanic men in USA. As an exceptional case in Europe, this sub-clade of E1b1b1 has also been observed at 40 percent the Pasiegos
Pas and Miera valleys
The Valleys of the Pas and Miera Rivers comprise an administrative comarca in Cantabria, Spain. It is formed by the valleys of said rivers, each one being a natural comarca of its own.-Pas valley:...

 from Cantabria
Cantabria
Cantabria is a Spanish historical region and autonomous community with Santander as its capital city. It is bordered on the east by the Basque Autonomous Community , on the south by Castile and León , on the west by the Principality of Asturias, and on the north by the Cantabrian Sea.Cantabria...

.

In smaller numbers, E-M81 men can be found in Sudan
Sudan
Sudan , officially the Republic of the Sudan , is a country in North Africa, sometimes considered part of the Middle East politically. It is bordered by Egypt to the north, the Red Sea to the northeast, Eritrea and Ethiopia to the east, South Sudan to the south, the Central African Republic to the...

, Lebanon
Lebanon
Lebanon , officially the Republic of LebanonRepublic of Lebanon is the most common term used by Lebanese government agencies. The term Lebanese Republic, a literal translation of the official Arabic and French names that is not used in today's world. Arabic is the most common language spoken among...

, Turkey, and amongst Sephardic Jews.

There are two recognized sub-clades, although one is much more important than the other.
Sub Clades of E1b1b1b (E-M81):
  • E1b1b1b1 (E-M107). found one example in Mali
    Mali
    Mali , officially the Republic of Mali , is a landlocked country in Western Africa. Mali borders Algeria on the north, Niger on the east, Burkina Faso and the Côte d'Ivoire on the south, Guinea on the south-west, and Senegal and Mauritania on the west. Its size is just over 1,240,000 km² with...

    .
  • E1b1b1b2 (E-M183). Individuals with the defining marker for this clade, M81, also test positive, in tests so far, for M183. As of October 23, 2008, the SNP M165 is currently considered to define a subclade, "E1b1b1b2a".

Mitochondrial DNA

Individuals receive mtDNA only from their mothers. According to Macaulay et al. 1999, "one-third of Mozabite
Mozabite
The Mozabite people are a Berber ethnic group living in M'zab in the northern Sahara. They speak Tumzabt. Most of them are Ibadi Muslims. Nearly all of them read and write Arabic, though they use the Zenata dialect of the Berber language, for which they have no surviving written form.Mozabites...

 Berber mtDNAs have a Near Eastern ancestry, probably having arrived in North Africa ∼50,000 years ago, and one-eighth have an origin in sub-Saharan Africa. Europe appears to be the source of many of the remaining sequences, with the rest having arisen either in Europe or in the Near East." Maca-Meyer et al. 2003 analyze the "autochthonous North African lineage U6" in mtDNA, and conclude that:
The most probable origin of the proto-U6 lineage was the Near East. Around 30,000 years ago it spread to North Africa where it represents a signature of regional continuity. Subgroup U6a reflects the first African expansion from the Maghreb returning to the east in Paleolithic times. Derivative clade U6a1 signals a posterior movement from East Africa back to the Maghreb
Maghreb
The Maghreb is the region of Northwest Africa, west of Egypt. It includes five countries: Morocco, Algeria, Tunisia, Libya, and Mauritania and the disputed territory of Western Sahara...

 and the Near East. This migration coincides with the probable Afroasiatic linguistic expansion.


A genetic study by Fadhlaoui-Zid et al. 2004 argues concerning certain exclusively North African haplotypes that "expansion of this group of lineages took place around 10,500 years ago in North Africa, and spread to neighbouring population", and apparently that a specific Northwestern African haplotype, U6, probably originated in the Near East 30,000 years ago but has not been highly preserved and accounts for 6-8 percent in southern Moroccan Berber
Chleuh
The Shilha people, commonly known as the Chleuh are a Berber ethnic group. They live mainly in Morocco's Atlas Mountains and Souss Valley. The Shilha population is estimated to be approximately 8 million.They speak the Shilha language in several regional varieties...

s, 18 percent in Kabyle
Kabyle people
The Kabyle people are the largest homogeneous Algerian ethno-cultural and linguistical community and the largest nation in North Africa to be considered exclusively Berber. Their traditional homeland is Kabylie in the north of Algeria, one hundred miles east of Algiers...

s and 28 percent in Mozabites. Rando et al. 1998 (as cited by http://www.journals.uchicago.edu/AJHG/journal/issues/v68n4/002582/002582.html) "detected female-mediated gene flow from sub-Saharan Africa to NW Africa" amounting to as much as 21.5 percent of the mtDNA sequences in a sample of NW African populations; the amount varied from 82 percent (Tuaregs) to 4 percent (Rif
Rif
The Rif or Riff is a mainly mountainous region of northern Morocco, with some fertile plains, stretching from Cape Spartel and Tangier in the west to Ras Kebdana and the Melwiyya River in the east, and from the Mediterranean Sea in the north to the river of Wergha in the south.It is part of the...

ains). This north-south gradient in the sub-Saharan contribution to the gene pool is supported by Esteban et al. Nevertheless, individual Berber communities display a considerably high mtDNA heterogeneity among them. The Berbers of Jerba Island, located in South Eastern Tunisia, display an 87 percent Eurasia
Eurasia
Eurasia is a continent or supercontinent comprising the traditional continents of Europe and Asia ; covering about 52,990,000 km2 or about 10.6% of the Earth's surface located primarily in the eastern and northern hemispheres...

n contribution with no U6 haplotypes, while the Kesra of Tunisia, for example, display a much higher proportion of typical sub-Saharan
Sub-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...

 mtDNA haplotypes (49 percent), as compared to the Zriba (8 percent). According to the article, "The North African patchy mtDNA landscape has no parallel in other regions of the world and increasing the number of sampled populations has not been accompanied by any substantial increase in our understanding of its phylogeography. Available data up to now rely on sampling small, scattered populations, although they are carefully characterized in terms of their ethnic, linguistic, and historical backgrounds. It is therefore doubtful that this picture truly represents the complex historical demography of the region rather than being just the result of the type of samplings performed so far."

Additionally, recent studies have discovered a close mitochondrial link between Berbers and the Saami
Sami people
The Sami people, also spelled Sámi, or Saami, are the arctic indigenous people inhabiting Sápmi, which today encompasses parts of far northern Sweden, Norway, Finland, the Kola Peninsula of Russia, and the border area between south and middle Sweden and Norway. The Sámi are Europe’s northernmost...

 of Scandinavia which confirms that the Franco-Cantabrian refuge area of southwestern Europe was the source of late-glacial expansions of hunter-gatherers that repopulated northern Europe after the Last Glacial Maximum and reveals a direct maternal link between those European hunter-gatherer populations and the Berbers. With regard to Mozabite Berbers, one-third of Mozabite Berber mtDNAs have a Near Eastern ancestry, probably having arrived in North Africa ∼50,000 years ago, and one-eighth have an origin in sub-Saharan Africa. Europe appears to be the source of many of the remaining sequences, with the rest having arisen either in Europe or in the Near East."

According to the most recent and thorough study about Berber mtDNA from Coudray et al. 2008 that analysed 614 individuals from 10 different regions (Morocco (Asni, Bouhria, Figuig, Souss), Algeria (Mozabites), Tunisia (Chenini-Douiret, Sened, Matmata, Jerba) and Egypt (Siwa)) the results may be summarized as follows :
  • Total Eurasian lineages (H
    Haplogroup H (mtDNA)
    In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA haplogroup that likely originated in Southwest Asia 25,000-30,000 YBP.-Origin:...

    , HV
    Haplogroup HV (mtDNA)
    In human mitochondrial genetics, Haplogroup HV is a human mitochondrial DNA haplogroup.-Origin:Haplogroup HV derives from the Haplogroup R0...

    , R0
    Haplogroup R (mtDNA)
    In human mitochondrial genetics, haplogroup R is a very extended mitochondrial DNA haplogroup and is the most common macro-haplogroup in West Eurasia.Haplogroup R is a descendant of macro-haplogroup N...

    , J
    Haplogroup J (mtDNA)
    In human mitochondrial genetics, Haplogroup J is a human mitochondrial DNA haplogroup.Haplogroup J derives from the haplogroup JT, which also gave rise to Haplogroup T. In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Jasmine...

    , T
    Haplogroup T (mtDNA)
    In human mitochondrial genetics, Haplogroup T is a human mitochondrial DNA haplogroup.-Known Origins:Mitochondrial Haplogroup T derives from the haplogroup JT, which also gave rise to haplogroup J...

    , U
    Haplogroup U (mtDNA)
    In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.-Origins:Haplogroup U descends from a woman in the Haplogroup R branch of the phylogenetic tree, who lived around 55,000 years ago...

     (without U6), K
    Haplogroup K (mtDNA)
    In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup, defined by HVR1 mutations 16224C and 16311C.-Origin:It is the most common subclade of haplogroup U8, and it has an estimated age of c. 12,000 years BP....

    , N1
    Haplogroup N (mtDNA)
    In human mitochondrial genetics, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M, is a descendant of haplogroup L3....

    , N2
    Haplogroup N (mtDNA)
    In human mitochondrial genetics, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M, is a descendant of haplogroup L3....

    , X
    Haplogroup X (mtDNA)
    In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup. It has a widespread global distribution but no major regions of distinct localization.-Origin:...

    ) : 50-80 percent
  • Total sub-Saharan lineages (L0
    Haplogroup L0 (mtDNA)
    -Distribution:It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%. Some of the higher frequencies are: Namibia 79%, South Africa 83% and Botswana 100%....

    , L1
    Haplogroup L1 (mtDNA)
    In human mitochondrial genetics, Haplogroup L1 is a human mitochondrial DNA haplogroup common in Central and West Africa.-Origin:Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago...

    , L2
    Haplogroup L2 (mtDNA)
    In human mitochondrial genetics, Haplogroup L2 is a human mitochondrial DNA haplogroup typical of Africa. Its subclade L2a is a somewhat frequent and widespread mtDNA cluster in Africa, as well as in the African diaspora Americans . et al.-Origin:L2 is a common African lineage. It is believed to...

    , L3
    Haplogroup L3 (mtDNA)
    In human mitochondrial genetics, Haplogroup L3 is a human mitochondrial DNA haplogroup. Haplogroup L3 has played a pivotal role in the history of the human species...

    , L4
    Haplogroup L4 (mtDNA)
    In human mitochondrial genetics, Haplogroup L4 is a human mitochondrial DNA haplogroup.It is a small African haplogroup.-Distribution:L4 is important in East Africa and Horn of Africa...

    , L5
    Haplogroup L5 (mtDNA)
    In human mitochondrial genetics, Haplogroup L5 is a human mitochondrial DNA haplogroup. It was previously known as L1e.-Distribution:It is a small African haplogroup from East Africa. The highest frequency is in Mbuti Pygmies at 15%...

    ) : 20-40 percent
  • Total North African lineages (U6
    Haplogroup U (mtDNA)
    In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.-Origins:Haplogroup U descends from a woman in the Haplogroup R branch of the phylogenetic tree, who lived around 55,000 years ago...

    , M1
    Haplogroup M (mtDNA)
    In human mitochondrial genetics, Haplogroup M is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling N, is a descendant of haplogroup L3....

    ) : 10-30 percent


The Berber mitochondrial pool is characterized by an "overall high frequency of Western Eurasian haplogroups, a somehow lower frequency of sub-Saharan L lineages, and a significant (but differential) presence of North African haplogroups U6 and M1". And according to Cherni et al. 2008 "the post-Last glacial maximum expansion originating in Iberia not only led to the resettlement of Europe but also of North Africa".

Until recently, some papers suggested that the distribution of the main L haplogroups in North Africa was mainly due to trans-Saharan slave trade. However in September 2010, a thorough study about Berber mtDNA by Frigi et al. concluded that most of L haplogroups were much older and introduced by an ancient African gene flow around 20,000 years ago.

Autosomal DNA

Berbers display a heterogeneous autosomal profile but in general autosomal markers are intermediate between Europeans and Sub-Saharan Africans with a West-Eurasian dominance.

Y-chromosome DNA

The general parent Y-chromosome Haplogroup E1b1b (formerly known as E3b), which might have originated in the Horn of Africa
Horn of Africa
The Horn of Africa is a peninsula in East Africa that juts hundreds of kilometers into the Arabian Sea and lies along the southern side of the Gulf of Aden. It is the easternmost projection of the African continent...

 or the 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...

 is by far the most common clade in North and Northeast Africa and found in select populations in Europe, particularly in the Mediterranean and South Eastern Europe. E1b1b reaches in Europe Greece
Greece
Greece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....

 and the Balkan region but, is not as high there as it is among African populations.http://www.webcitation.org/query?url=http://www.geocities.com/littlednaproject/Y-MAP.GIF&date=2009-10-26+01:52:16.

Outside of North and Northeast Africa, E1b1b's two most prevalent clades are E1b1b1a (E-M78, formerly E3b1a) and E1b1b1b (E-M81, formerly E3b1b).

E1b1b1a is the most common subclade of E1b1b and is present predominantly in North East Africa. It was originally thought to have been a marker of Neolithic migrations (perhaps coinciding with the introduction of Agriculture into Europe) from Anatolia to Europe, via the Balkans, where it enjoys the high frequency. However, Cruciani's latest study suggests that it actually arrived into the Balkans from Western Asia during the Palaeolithic, and then spread throughout Europe much later (c. 5300 years ago) due to a population expansion from Egypt.

A study from Semino (published 2004) showed that Y-chromosome haplotype E1b1b1b (E-M81), is specific to North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...

n populations and almost absent in Europe except the 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...

 (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...

 and 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...

) and Sicily. Another 2004 study showed that E1b1b1b is found present, albeit at low levels throughout Southern Europe (ranging from 1.5 percent in Northern Italians, 2.2 percent in Central Italians, 1.6 percent in southern Spaniards, 3.5 percent in the French, 4 percent in the Northern Portuguese, 12.2 percent in the southern Portuguese and 41.2 percent in the genetic isolate of the Pasiegos from Cantabria). The findings of this latter study contradict a more thorough analysis Y-chromosome analysis of the Iberian peninsula according to which haplogroup E1b1b1b surpasses frequencies of 10 percent in Southern Spain. The study points only to a very limited influence from northern Africa and the Middle East both in historic and prehistoric times. The absence of microsatellite variation suggests a very recent arrival from North Africa consistent with historical exchanges across the Mediterranean during the period of Islamic expansion, namely of Berber populations. A study restricted to 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...

, concerning Y-chromosome lineages, revealed that "The mtDNA and Y data indicate that the Berber presence in that region dates prior to the Moorish expansion in 711 AD. ... Our data indicate that male Berbers, unlike sub-Saharan immigrants, constituted a long-lasting and continuous community in the country".

Haplotype V(p49/TaqI), a characteristic North African haplotype, may be also found in the Iberian peninsula, and a decreasing North-South cline of frequency clearly establishes a gene flow from North Africa towards Iberia which is also consistent with Moorish
Moors
The description Moors has referred to several historic and modern populations of the Maghreb region who are predominately of Berber and Arab descent. They came to conquer and rule the Iberian Peninsula for nearly 800 years. At that time they were Muslim, although earlier the people had followed...

 presence in the peninsula. This North-South cline of frequency of halpotype V is to be observed throughout the Mediterranean region, ranging from frequencies of close to 30 percent in southern Portugal to around 10 percent in southern France. Similarly, the highest frequency in Italy is to be found in the southern island of Sicily (28 percent).

A wide-ranging study (published 2007) using 6,501 unrelated Y-chromosome samples from 81 populations found that: "Considering both these E-M78 sub-haplogroups (E-V12, E-V22, E-V65) and the E-M81 haplogroup, the contribution of northern African lineages to the entire male gene pool 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...

 (barring Pasiegos), continental 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...

 and Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

 can be estimated as 5.6 percent, 3.6 percent and 6.6 percent, respectively."

A very recent study about Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

 by Gaetano et al. 2008 found that "The Hg E3b1b-M81, widely diffused in northwestern African populations, is estimated to contribute to the Sicilian gene pool at a rate of 6 percent." .

According to the most recent and thorough study about 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...

 by Adams et al. 2008 that analysed 1,140 unrelated Y-chromosome samples in Iberia, a much more important contribution of northern African lineages to the entire male gene pool 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...

 was found : "mean North African admixture is 10.6 percent, with wide geographical variation, ranging from zero in Gascony to 21.7 percent in Northwest Castile".

Mitochondrial DNA

Genetic studies on Iberian populations also show that North African mitochondrial DNA sequences (haplogroup U6
Haplogroup U (mtDNA)
In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.-Origins:Haplogroup U descends from a woman in the Haplogroup R branch of the phylogenetic tree, who lived around 55,000 years ago...

) and sub-Saharan sequences (Haplogroup L
Haplogroup L1 (mtDNA)
In human mitochondrial genetics, Haplogroup L1 is a human mitochondrial DNA haplogroup common in Central and West Africa.-Origin:Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago...

), although present at only low levels, are still at much higher levels than those generally observed elsewhere in Europe. Haplogroup U6 have also been detected in Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

 and South Italy
South Italy
South Italy is one of the five official statistical regions of Italy used by the National Institute of Statistics , a first level NUTS region and a European Parliament constituency. South Italy encompasses six of the country's 20 regions:*Abruzzo...

 at very low levels. It happens also to be a characteristic genetic marker of the Saami populations of Northern Scandinavia. It is difficult to ascertain that U6's presence is the consequence of Islam's expansion into Europe during the Middle Ages
Middle Ages
The Middle Ages is a periodization of European history from the 5th century to the 15th century. The Middle Ages follows the fall of the Western Roman Empire in 476 and precedes the Early Modern Era. It is the middle period of a three-period division of Western history: Classic, Medieval and Modern...

, particularly because it is more frequent in the north of the Iberian Peninsula rather than in the south. In smaller numbers it is also attested too in the British Isles
British Isles
The British Isles are a group of islands off the northwest coast of continental Europe that include the islands of Great Britain and Ireland and over six thousand smaller isles. There are two sovereign states located on the islands: the United Kingdom of Great Britain and Northern Ireland and...

, again in its northern and western borders. It may be a trace of a prehistoric neolithic/megalithic expansion along the Atlantic coasts from North Africa, perhaps in conjunction with seaborne trade. One subclade of U6 is particularly common among Canarian Spaniards
Canarian people
The Canarians are an ethnic group living in the archipelago of the Canary Islands , near the coast of Western Africa...

 as a result of native Guanche
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...

 (proto-Berber) ancestry.

Genetic influences on Latin America

As a consequence of Spanish and Portuguese colonization of Latin America, E-M81 is also found throughout Latin America
Latin America
Latin America is a region of the Americas where Romance languages  – particularly Spanish and Portuguese, and variably French – are primarily spoken. Latin America has an area of approximately 21,069,500 km² , almost 3.9% of the Earth's surface or 14.1% of its land surface area...

 and among Hispanic men in USA.

See also

  • Y-DNA haplogroups by populations of Near East and North Africa
    Y-DNA haplogroups by populations of Near East and North Africa
    Listed here are notable ethnic groups and populations from Western Asia, North Africa and South Caucasus by human Y-chromosome DNA haplogroups based on relevant studies...

  • Population history of Egypt
    Population history of Egypt
    The land currently known as Egypt has a long and involved population history. This is partly due to its geographical location at the crossroads of several major cultural areas: the Mediterranean, the Middle East, the Sahara and East Africa...

  • Archaeogenetics of the Near East
    Archaeogenetics of the Near East
    The archaeogenetics of the Near East involves the study of aDNA or ancient DNA, identifying haplogroups and haplotypes of ancient skeletal remains from both YDNA and mtDNA for populations of the Ancient Near East The archaeogenetics of the Near East involves the study of aDNA or ancient DNA,...

  • Ethnic groups of North Africa
  • African admixture in Europe
    African admixture in Europe
    African admixture in Europe refers to the Eurasian presence of Human genetic polymorphisms, which are considered to be evidence for movements of people from Africa to Eurasia in both the prehistoric and historic past.-Geographical influences:...

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