Genetic history of North Africa

[15] A recent study has found that nearly 40% of modern Maghrebi males carry the paternal marker E-M81, which is thought to have expanded from the Levant into North Africa.

The Eu10 chromosome pool in the Maghreb is derived not only from early Neolithic dispersions from Western Asia but to a much greater extent from recent expansions of Arab tribes from the Arabian Peninsula.

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 and E1b1b main haplogroups) is largely of West Asian origin, which suggests that their introduction in this part of the world was to a great extent the result of a migration of recent Semitic pastoralists from the Middle East,[24] although more recent papers have suggested that this date could have been as long as ten thousand years ago during the Neolithic, with the transition from the Oranian to the West Asian originating Capsian culture in North Africa.

A study from Semino (published 2004) showed that Y-chromosome haplotype E1b1b1b (E-M81), is specific to North African populations and almost absent in Europe, Western Asia and sub-Saharan Africa, except in the European regions of Iberia (Spain, Portugal, Gibraltar, Andorra) and Sicily.

In support of this theory, human remains excavated in a Spanish funeral cave dating from approximately 7,000 years ago were shown to be in this haplogroup.

A very recent study about Sicily 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.

It originated in the Middle East, and its highest frequency of 30%–62.5% has been observed in Arab, Assyrians, Mandean, Mizrahi and Georgian populations in Western Asia and south Caucasus.

[1] Recent genome-wide analysis of North Africans found substantial shared ancestry with the Middle East dating back to at least the Neolithic, and to a lesser extent sub-Saharan Africa and Europe.

The recent gene flow caused by the Arab migrations to the Maghreb increased these already extant genetic similarities between North Africans and Middle Easterners.

This north-south gradient in the sub-Saharan contribution to the gene pool is supported by Esteban et al.[47] Nevertheless, individual Berber communities display a considerably high mtDNA heterogeneity among them.

A 2005 study discovered a close mitochondrial link between Berbers and the Uralic speaking Saami of northern Scandinavia and the sub-Arctic, and argues that Southwestern Europe and North Africa was the source of late-glacial expansions of hunter-gatherers that repopulated Northern Europe after a retreat south during the Last Glacial Maximum, and reveals a direct maternal link between those European hunter-gatherer populations and the Berbers.

"[45] According to the most recent and thorough study on Berber mtDNA from Coudray et al. 2008, which analysed 614 individuals from 10 different regions (Morocco (Asni, Bouhria, Figuig, Souss), Algeria (Mozabites), Tunisia (Chenini-Douiret, Sened, Matmata, Jerba) and Egypt (Siwa)),[51] the results may be summarized as follows: The Berber mitochondrial pool is characterized by an overall high frequency of Western Eurasian haplogroups, a markedly lower frequency of sub-Saharan L lineages, and a significant (but differential) presence of North African haplogroups U6 and M1.

[52] However, also in September 2010, a study of Berber mtDNA by Frigi et al. concluded that some of the L haplogroups were much older and introduced by an ancient African gene flow around 20,000 years ago.

[53] Genetic studies on Iberian populations also show that North African mitochondrial DNA sequences (haplogroup U6) and sub-Saharan sequences (Haplogroup L), although present at only low levels, are still at higher levels than those generally observed elsewhere in Europe, though very likely, most of the L mtDNA that has been found in minor amounts in Iberia, is actually pre-neolithic in origin, as it was demonstrated by María Cerezo et al., (Reconstructing ancient mitochondrial DNA links between Africa and Europe) and U6 too, which also have a very old presence in Iberia, since Iberia has a great diversity in lineages from this haplogroup, it was already found in some local hunter-gatherer remains and its local geographic distribution is not compatible, in many cases, with Moor occupation area.

[50] It is difficult to ascertain that U6's presence is the consequence of Islam's expansion into Europe during the Middle Ages, particularly because it is more frequent in the west of the Iberian Peninsula rather than in the east.

It may be a trace of a prehistoric Neolithic/Megalithic/Mesolithic or even Upper Paleolithic expansion along the Atlantic coasts from North Africa or Iberian Peninsula, perhaps in conjunction with seaborne trade, although an alternative, but less likely explanation, would attribute this distribution in Northern Britain to the Roman period.

This genetic composition shows a significant local component that became more distinct around 12,000 years ago, possibly influenced by migrations, population expansions, or other demographic events.

According to David Comas, coordinator of the study and researcher at the Institute for Evolutionary Biology (CSIC-UPF), "some of the questions we wanted to answer were whether today's inhabitants are direct descendants of the populations with the oldest archaeological remains in the region, dating back fifty thousand years, or whether they are descendants of the Neolithic populations in the Middle East, which introduced agriculture to the region around nine thousand years ago.

[59] To explore these questions, the research team analyzed nearly 800,000 genetic markers across the entire genomes of 125 North African individuals from seven representative populations.

The data suggests that while ancient human groups indeed inhabited the region, the majority of the modern identifiable genetic makeup stems from more recent periods.

Modern North African populations were observed to share genetic markers in varying degrees with all the neighbouring regions (Southern Europe, West Asia, sub-Saharan Africa), probably as a result of more recent migrations.

[61] A 2015 study by Dobon et al. identified another ancestral autosomal component of West Eurasian origin that is common to many modern Afro-Asiatic-speaking populations in Northeast Africa.

[65] According to Lucas-Sánchez, Marcel et al. (2021) despite the geneflow from the Middle-East, Europe and sub-Saharan Africa, an autochthonous genetic component that dates back to pre-Holocene times is still present in North African groups.

All of the specimens belonged to maternal clades associated with either North Africa or the northern and southern Mediterranean littoral, indicating gene flow between these areas since the Epipaleolithic.

[72] The E1b1b-M81 (~44%), R-M269 (~44%), and E-M132/E1a (~6%) paternal haplogroups have been found in ancient Guanche (Bimbapes) fossils excavated in Punta Azul, El Hierro, Canary Islands, which are dated to the 10th century.

These studies confirmed a break in continuity in the region showing that Mesolithic Moroccans did not contribute paternally to Later Stone Age individuals and to present-day Maghrebi populations.

[3][74] A 2019 study seeking to determine if North Africans descend from strictly Palaeolithic groups (Taforalt), or subsequent migrations, discovered that most of the genetic variation in the region was shaped during the Neolithic.

[75] In 2013, Nature announced the publication of the first genetic study utilizing next-generation sequencing to ascertain the ancestral lineage of an Ancient Egyptian individual.

The research was led by Carsten Pusch of the University of Tübingen in Germany and Rabab Khairat, who released their findings in the Journal of Applied Genetics.

Distribution of Haplogroup J (Y-DNA)
Fortes-Lima, Cesar et al. 2022, Red: West African, Purple: East African, Green: Middle Eastern, Blue: European. North Africans show high ancestry proportions from West Asia and Europe.
The Ancient North African Iberomaurusian cline associated with the origin of Proto-Afroasiatic ; combining archaeologic, genetic and linguistic data.