The Genetics and History of Blonde Berbers

The Berbers, also known as Imazighen, are an ancient ethnic group indigenous to North Africa with a rich and complex history. Accounts of the Imazighen were first mentioned in Ancient Egyptian writings. From about 2000 BC, Berber languages spread westward from the Nile Valley across the northern Sahara into the Maghreb. While "Berber" is more widely known among English-speakers, its usage is a subject of debate, due to its historical background as an exonym and present equivalence with the Arabic word for "barbarian". The plural form Imazighen is sometimes also used in English.

Historically, Berbers did not refer to themselves as Berbers/Amazigh but had their own terms to refer to themselves. They started being referred to collectively as Berbers after the Arab conquests of the 7th century and this distinction was revived by French colonial administrators in the 19th century. Today, much of Berber culture is still celebrated among the cultural elite in Morocco and Algeria, especially in Kabylia, the Aurès and the Atlas Mountains.

Map of Berber dialects.

Origins and Ancient History

The Maghreb region in northwestern Africa is believed to have been inhabited by Berbers from at least 10,000 BC. Cave paintings, which have been dated to twelve millennia before present, have been found in the Tassili n'Ajjer region of southeastern Algeria. Other rock art has been discovered at Tadrart Acacus in the Libyan desert.

A series of Berber peoples such as the Mauri, Masaesyli, Massyli, Musulamii, Gaetuli, and Garamantes gave rise to Berber kingdoms, such as Numidia and Mauretania. Other kingdoms appeared in late antiquity, such as Altava, Aurès, Ouarsenis, and Hodna. Berber kingdoms were eventually suppressed by the Arab conquests of the 7th and 8th centuries AD. Tribal titles such as Barabara and Beraberata appear in Egyptian inscriptions of 1700 and 1300 BC, and the Berbers were probably intimately related with the Egyptians in very early times.

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Uniparental DNA analysis has established ties between Berbers and other Afroasiatic speakers in Africa. Additionally, genomic analysis found that Berber and other Maghreb communities have a high frequency of an ancestral component that originated in the Near East.

In 2013, Iberomaurusian skeletons from the prehistoric sites of Taforalt and Afalou in the Maghreb were also analyzed for ancient DNA. Ancient DNA analysis of these specimens indicates that they carried paternal haplotypes related to the E1b1b1b1a (E-M81) subclade and the maternal haplogroups U6a and M1, all of which are frequent among present-day communities in the Maghreb. These ancient individuals also bore an autochthonous Maghrebi genomic component that peaks among modern Berbers, indicating that they were ancestral to populations in the area.

The late-Neolithic Kehf el Baroud inhabitants were modelled as being of about 50% local North African ancestry and 50% Early European Farmer (EEF) ancestry. It was suggested that EEF ancestry had entered North Africa through Cardial Ware colonists from Iberia sometime between 5000 and 3000 BC. They were found to be closely related to the Guanches of the Canary Islands.

Berber Interactions with Phoenicians and Romans

The great tribes of Berbers in classical antiquity (when they were often known as ancient Libyans) were said to be three (roughly, from west to east): the Mauri, the Numidians near Carthage, and the Gaetulians. The Mauri inhabited the far west (ancient Mauretania, now Morocco and central Algeria). The Numidians occupied the regions between the Mauri and the city-state of Carthage.

The Phoenicians (Semitic-speaking Canaanites) came from the western coast of the Fertile Crescent region of West Asia. The earliest Phoenician coastal outposts were probably meant merely to resupply and service ships bound for the lucrative metals trade with the Iberians. However, the Phoenicians eventually established strategic colonial cities in many Berber areas, including sites outside of present-day Tunisia, such as the settlements at Oea, Leptis Magna, Sabratha (in Libya), Volubilis, Chellah, and Mogador (now in Morocco).

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Also, due to the Berbero-Libyan Meshwesh dynasty's rule of Egypt (945-715 BC), the Berbers near Carthage commanded significant respect. Correspondingly, in early Carthage, careful attention was given to securing the most favourable treaties with the Berber chieftains, "which included intermarriage between them and the Punic aristocracy".

Lack of contemporary written records makes the drawing of conclusions here uncertain, which can only be based on inference and reasonable conjecture about matters of social nuance. Thousands of rebels streamed down from the mountains and invaded Punic territory, carrying the serfs of the countryside along with them. The Berbers had become involuntary 'hosts' to the settlers from the east, and were obliged to accept the dominance of Carthage for centuries.

As the centuries passed, a society of Punic people of Phoenician descent but born in Africa, called Libyphoenicians emerged there. This term later came to be applied also to Berbers acculturated to urban Phoenician culture. Yet the whole notion of a Berber apprenticeship to the Punic civilization has been called an exaggeration sustained by a point of view fundamentally foreign to the Berbers.

A population of mixed ancestry, Berber and Punic, evolved there, and there would develop recognized niches in which Berbers had proven their utility. Thus, when the Greeks under Agathocles (361-289 BC) of Sicily landed at Cape Bon and threatened Carthage (in 310 BC), there were Berbers, under Ailymas, who went over to the invading Greeks.

During the long Second Punic War (218-201 BC) with Rome, the Berber King Masinissa (c. 240 - c. 148 BC) joined with the invading Roman general Scipio, resulting in the war-ending defeat of Carthage at Zama.

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The unequal development of material culture and social organization perhaps fated the relationship to be an uneasy one. A long-term cause of Punic instability, there was no melding of the peoples. It remained a source of stress and a point of weakness for Carthage.

The Berbers gain historicity gradually during the Roman era. Byzantine authors mention the Mazikes (Amazigh) as tribal people raiding the monasteries of Cyrenaica. Roman-era Cyrenaica became a center of early Christianity. Some pre-Islamic Berbers were Christians, some perhaps Jewish, and some adhered to their traditional polytheist religion.

The Enigma of Blonde Hair among Berbers

The specific phenotype combination of blonde hair, blue eyes and light skin is a rather recent development for human variation, specifically associated with a population associated with the Central European Corded Ware culture. Blue eyes are generally regarded to have originated among the Western Hunter-gatherers (WHG), early European hunter-gatherers, which were characterized by dark skin but blue/light eyes. Blonde hair originated multiple times all over the globe, but the relevant gene alleles common to Europeans originated, or were first attested among a distinctive Paleolithic Siberian sample (Afontova Gora 3) not specially closely related to modern Europeans (or East Asians).

As we can see, the gene for blonde hair originated among a non-European population first, but was significantly selected among (mostly) European hunter-gatherer populations and later Steppe pastoralists. The specific combination of blonde hair, blue eyes and light skin henceforth originated through the admixture of Western/European hunter-gatherers (responsible for the blue eyes), Anatolian/Middle Eastern farmers (responsible for light skin), and Eastern hunter-gatherers, which derive significant amounts from a Southern Siberian population (broadly being a hybrid of deep West-Eurasian and deep East-Eurasian ancestry; responsible for the blone hair gene).

Carrying these alleles however does not necessarily mean that the trait is expressed or “activated”, henceforth genotype is not phenotype. Where the allele ultimately originated is still unknown.

The WHG mixed with various waves of Early European farmers (EEF) from Anatolia, giving rise to the Neolithic European population. During the late Neolithic and especially since the Bronze Age, Yamnaya-associated Steppe pastoralists and other EHG-rich groups migrated further West, mixing with the Neolithic European population, with Yamnaya-like groups spreading the Indo-European languages throughout Europe, Anatolia and into Central Asia (Afanasievo culture). The people of the Corded Ware culture were the first known people to have carried all three gene alleles responsible for blonde hair, blue eyes and light skin at a high frequency, and are regared to have spread this specific phenotype and the respective Indo-European branches.

A study found a close genetic relationship between the Corded Ware culture and the Sintashta culture, suggesting that the Sintashta culture emerged as a result of an eastward expansion of Corded Ware peoples. The Sintashta culture is in turn closely genetically related to the Andronovo culture, by which it was succeeded.

Genetic MarkerOriginAssociated Population
Blue EyesWestern Hunter-Gatherers (WHG)Early European Hunter-Gatherers
Blonde HairPaleolithic Siberian Sample (Afontova Gora 3)Hybrid of West-Eurasian and East-Eurasian Ancestry
Light SkinAnatolian/Middle Eastern FarmersNeolithic Populations

The Kabyle people, residing in the Atlas Mountains, are known for their unique genetic diversity, including instances of blonde hair, blue eyes, and even red hair. Some subgroups have a high percentage of blonde hair. These mountains serve as a refuge from outside influences.

During the Last Glacial Maximum (26,500-19,000 years ago), much of central and northern Europe was covered in ice, leading humans to seek refuge in southern Europe. There have been mtDNA traces of people who took refuge in Iberia then helped resettle Europe after the glaciers retreated.

The mtDNA haplogroups H1, H3, V, and U5b1 which are from the migrations out of Iberia 15,000ybp after the last ice age are about 15-30% in most Europeans and north west Africans, 30-50% in Iberians, and 30-40% and in Scandinavians. The mtDNA of the Kablye people is H=32.3%, U=29.03%(U6= 17.74%), L=8.07%(L3a=4.84%, L1=3.23%), V=4.84%, T=3.23%, J=3.23%, M1=3.23%, R=3.23%, N=1.61%(2). It did not say how much H1 and H3 they had just 32.3% H. H1, and H3 are the main haplogroups that spread from Iberia 15,000ybp. They are actulley very common in northwest Africa The Turag in Libya have 61% H1(3). H1 and H3 are just as popular in North west Africa as in most of Europe while H1 and H3 are much less popular in the middle east and the rest of north Africa. two 12,000 year old mtDNA V samples came from the Atlas mountains in Morocco which pretty much proves these migration happened(4). The only four that where able to find a fir sure haplogroup all had H they possibly had H1 or H3. Also Berbers have their own subclade of mtDNA U5b1 which is a European haplogroup. The sami of far northern Scandinavia have about 50% V(which came from Iberian refuge), and 40-50% U5b1( which came form Iberian refuge). The Sami U5b1 is most related to the Berber U5b1 their common ancestor is estimated to have lived 8,000ybp in Iberia. I think those ages are off probably right after the glacier in Europe retreated 15,000-19,000 years ago.

It is true that the Iberians that migrated to North Africa 12,000-15,000ybp would be most related to modern Sami and Finnish that does not exactly mean they had light hair and eyes like Sami and Finnish. Since alot of Iberians ancestry is from those farmers who where dark haired and eyed maybe the light hair, light eyes, and red hair in Iberia disappeared.

A very important note to take is Kablye have red hair. Red hair today almost only exists in western Europe with the borders of Indo European Y DNA R1b L11's subclades. except for the Udmurts in volga Russia who have 15% red hair(7). Also the ancinet Indo Iranien Indo Europeans who migrated out of the steppes to cetral asia about 5,000ybp also had high amounts of red hair. Red hair is sometimes still found today in indo Iranian speaking areas today like Kurds in Iraq, Kalash in Pakistan, Pashuten in Afghanistan. All red hair in the world comes from Indo Europeans who where from many differnt ethnic groups in central Russia and the caucus who mixed 6,000-8,000ybp. Except Udmurt in volga Russia but the Udmurts live in the area where the Indo European languages spread from so they get red hair from the same source as Indo Europeans did. 8,000-10,000 years ago red hair would have only existed in people around central Russia and Ukriane and it would have been extremely popular. Then if the Kablye have red hair and did not get it from Indo European migrations where the heck did it come from. The Kablye do have 15% R1b M269(2) it did not say if they had the western European type R1b l11 but they defintley do and they most likley got it from Spainish.

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Map of Europe during the Last Glacial Maximum.

TYRP1 Gene Mutation in Solomon Islanders

Blond hair is a rare human phenotype found almost exclusively in Europe and Oceania. In the Solomon Islands, a cystine-to-arginine change at a highly conserved residue in tyrosinase-related protein 1 (TYRP1) has been identified as the single source of blond hair.

Human pigmentation varies considerably within and among populations and is a function of both variation in exposure to ultraviolet radiation (UVR) and the type and quantity of melanin produced in melanocytes and keratinocytes. Strikingly, while individuals from the Solomon Islands and other locations in Oceania near the equator have both the darkest skin pigmentation outside of Africa, they also have the highest prevalence of blond hair (5-10%) outside of Europe.

Estimates of global ancestry proportion showed that individuals from the Solomon Islands are genetically distinct from nearby populations. Further, no systematic differences in ancestry between blond and dark-haired Solomon Islanders were found suggesting that the presence of blond hair in the Solomon Islands is not due to recent gene flow from other populations.

A case-control GWA study for hair color, comparing blond to dark-haired individuals, revealed a single strong association signal on chromosome 9. The GWA signal was driven by 151 single nucleotide polymorphisms (SNPs) at 9p23 flanked at each side by a recombination hotspot. The SNP with the strongest association (rs13289810; odds ratio = 29.5±0.485 SE; P=1.11×10−19) had a frequency of 0.93 and 0.31 in blond -and dark-haired individuals, respectively.

The arginine residue is highly conserved. To verify that 93C is the single causal allele driving the 9p23 GWA peak, the variant was genotyped directly in the discovery GWA panel and analyses repeated including R93C. R93C was more strongly associated with blond hair (P=9.60×10−23) than the top GWA SNP.

To further evaluate its effects on hair pigmentation in Solomon Islanders, 93C was genotyped in 921 Solomon Islanders for whom we had measured hair pigmentation with spectrometry. A recessive model provides the best fit for the association between 93C and hair color and a model including genotype, age and sex accounts for 46.4% of the variance in hair color on the Solomon Islands (P = 2.19×10−90; fig. S6 and table S3). The frequency of the 93C allele in the Solomon Islands is 0.26.

Mutations in TYRP1, which is highly conserved in vertebrates, have been shown to lighten skin and/or hair pigmentation in several species including pigs, dogs, mice and zebra fish. The 93C blond hair mutation in human TYRP1 resides in an epidermal growth factor (EGF)-like repeat near the N-terminus and shows similarity to the TYRP1 allele in the brownlight mouse. It seems likely that the human 93C mutation confers a similar phenotype, namely premature melanocyte death that is exacerbated with age and melanogenic activity, resulting in blond hair that does not darken with age as observed in the Solomon Islands.

The frequency of the 93C allele in Solomon Islanders relative to other populations and its robust association with a visible human phenotype suggest that the 93C allele may have been driven to intermediate frequency by positive selection. The TYRP1 locus was evaluated for evidence of past positive selection using statistics based on allele frequency differentiation and long-range linkage disequilibrium.

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