Y-chromosome Lineages from Portugal, Madeira and Acores Record Elements of Sephardim and Berber Ancestry

Y-chromosome Lineages from Portugal, Madeira and Acores Record Elements of Sephardim and Berber Ancestry

Rita Gonc¸alves1, Ana Freitas1, Marta Branco1, Alexandra Rosa1,4, Ana T. Fernandes1,

A total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of Ac¸ores and Madeira, in order to characterize the genetic composition of their male gene pool. A large majority (78–83% of each population) of the male lineages could be classified as belonging to three basic Y chromosomal
haplogroups, R1b, J, and E3b. While R1b, accounting for more than half of the lineages in any of the Portuguese subpopulations, is a characteristic marker of many different West European populations, haplogroups J and E3b consist of lineages that are typical of the circum-Mediterranean region or even East Africa. The highly diverse haplogroup
E3b in Portuguese likely combines sub-clades of distinct origins. The present composition of the Y chromosomes in Portugal in this haplogroup likely reflects a pre-Arab component shared with North African populations or testifies, at least in part, to the influence of Sephardic Jews. In contrast to the marginally low sub-Saharan African Y chromosome component in Portuguese, such lineages have been detected at a moderately high frequency in our previous survey of mtDNA from the same samples, indicating the presence of sex-related gene flow, most likely mediated by the Atlantic slave trade.


Interesting from this

mtDNA haplogroups L0–L3 and M1 that are characteristic to sub- Saharan populations are present at ~12% and ~14.8% in the south of Portugal and Madeira, respectively.

…which assumes the M1 is from slaves, but I suspect this may have a much older date, like 20k or more from North Africa as some movement from North Africa is suggested at this point by mt DNA U6 and Y chr E1, and one L mt DNA hg.

TMRCA for Portuguese E1 lineages estimated as 22.9 ± 7.2 ky (Table 2) favours the first scenario, a possible parallel to mtDNA U6 cited in Gonzalez et al. (2003).

Which agrees with the observations that the North African Holocene population seem to be a patchwork of sub Saharan and Eurasian phenotypes, with the far West (Taforalt) showing  as the least Sub Saharan, and Sudanese Nubia as the most. This supports an expansion from the North East of Africa that spread the Iberomaurussian culture as far as Portugal and Syria.


The paper also observes that J1 seems to have arrived on two separate occasions..

the divergence time of J1 in Central and South Portuguese populations (between 4.8 ky and 11.1 ky, Table 2) suggests that they were imported from distinct founding populations or even through different waves from different Middle-Eastern populations that had diverged much earlier elsewhere.

Which could be possible if the older J1 arrived with the Capsian transition in North Africa as was recently suggested.


6 responses to “Y-chromosome Lineages from Portugal, Madeira and Acores Record Elements of Sephardim and Berber Ancestry

  1. … slaves constituted at least 10% of the total population
    in Madeira and the South of the country in the 15th

    This is very likely. Madeira is considered the first plantatation colony ever but slavery also existed in southern Iberia for long (in the Spanish case all or most were moved to Cuba upon partial slavery abolition in the metropolis). Slaves did not need to be Black anyhow, originally the pretext for slavery was religion, so Muslims, Jews and Pagans in general could be enslaved unless otherwise protected (in fact Irish were massively enslaved by the English on this same religious pretext later on).

    mtDNA haplogroups L0–L3 and M1 that are characteristic to sub- Saharan populations are present at ~12% and ~14.8% in the south of Portugal and Madeira, respectively.

    M1 is rare or unexistent in West Africa and more common among Caucasoids in fact. Also these clades are present in significative numbers (like 25%) among North Africans, so the origin of these haplogroups can well be diverse.

    But anyhow, the presence of E3b in Portugal (and generally Western Iberia) can hardly be related to Muslim presence. It does not follow the pattern of Al Andalus and its history at all (it’s rare in Granada but also in the East, where Muslims were stronger). IMO it must reflect some older event probably dated to Neolithic or maybe Chalcolithic prehistory. Widespread J2, as well as I and G, also would seem to be of Neolithic origin, at least for the largest share.

  2. “This supports an expansion from the North East of Africa that spread the Iberomaurussian culture as far as Portugal and Syria”.

    I was under the impression that the Iberomaurusian provided support for an early expansion across the Gibraltar Strait. If the Iberomaurusian from East Africa there goes any evidence for pre-Cardium (or roughly contemporary) crossing of the Mediterranean.

  3. Whenever I look up Iberomaurussian I get ‘Halfan culture’ come up as a parent for it.


    It was in the upper Egypt nubia area, and seems to match the expansion patterns for m78 and the E’s Y chr in North African.It would also explain why the Natufiuans and even some older Iberian crania show varying levels of affinity with sub Saharan Africans.

    I know Luis is keen on it being Iberian in origin, but the mechtoid/natufian populations show a mix of African and Eurasian traits

    Quite true about the slaves Luis.

  4. This is so interesting.
    I am writing a novel about 6th century Berbers….actually Tin Hinan, a Berber Queen.

    Berbers don’t look like Africans. They now are mixed with Arab blood, but I wondered at the origin of these remarkable people.

    They resisted the Arabs/Islam until the 7th century, and even unto the 20th, they had their own egyptian (mostly) gods and goddesses.

    Remarkable people all in all.

    Lady Nyo

    • There’s a page on this blog called The Faces of North Africa, that shows portraits of North Africans from the stone age. They haven’t changed much.

      There’s not that much Arab in North Africans.

    • Ladynyo,
      I sure I will enjoy to reed your book, when published. I have a special affection for the Berbers (their name, Imazighen, has something poetic) and I think in Morroco and Algeria they are in a silent war againt the elites, Berbers by blood but Arabs by culture. The Berbers (the Imazhigen) had a very ancient and tragic history…

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