March 27, 2012

Claim that some African matrilineages in Europe are pre-Neolithic

A new paper estimates that some 35% or the L(xM,N) lineages of Europe are prehistorical and even pre-Neolithic:


Abstract

Mitochondrial DNA (mtDNA) lineages of macro-haplogroup L (excluding the derived L3 branches M and N) represent the majority of the typical sub-Saharan mtDNA variability. In Europe, these mtDNAs account for <1% of the total but, when analyzed at the level of control region, they show no signals of having evolved within the European continent, an observation that is compatible with a recent arrival from the African continent. To further evaluate this issue, we analyzed 69 mitochondrial genomes belonging to various L sublineages from a wide range of European populations. Phylogeographic analyses showed that ∼65% of the European L lineages most likely arrived in rather recent historical times, including the Romanization period, the Arab conquest of the Iberian Peninsula and Sicily, and during the period of the Atlantic slave trade. However, the remaining 35% of L mtDNAs form European-specific subclades, revealing that there was gene flow from sub-Saharan Africa toward Europe as early as 11,000 yr ago.

See also the press release at Eureka Alert.

I do not have access but it seems obvious that the authors are using molecular-clock-o-logy, which is not really reliable, depending on too many assumptions. However they tend to fail towards too recent, so maybe their estimates of 11 Ka can be in fact something like 22 Ka and therefore consistent with the more than likely interactions between SW Europe and NW Africa at the genesis of Oranian culture, which is probably the origin of SW European-derived mtDNA in North Africa.


Update:

I got a copy and some stuff is indeed informative:

Fig. 1 spread of (a) paragroup L(xM,N) and (b) L1 (crosses mark sampling sites)

Fig. 3 apportion of the L(xM,N) lineages and of the probable origin regions

The most common lineages are L1b and L2a.

Most European L1b appears to have spread from the Iberian peninsula where it is most concentrated in the area of Salamanca, being loosely consistent with other North African genetic presence in the peninsula, generally concentrated in the Western third (and with some even greater frequency in the mountain areas of the old Kingdom of León. Some of these lineages have not been found among a sample of 73 L1b mitogenomes from Africans and African Americans (fig. 2), what brings the authors to consider them potentially local European (or in some cases NW African) developments. These are:
  • L1b1a11 (Slovenia, Switzerland and Ireland), its sister lineages are found one in Jordan (unnamed) and another (L1b1a3) among Nigerians, Gabonese, African-Americans and some Portuguese.
  • L1b1a6a (Portugal, Spain and Britain): just one branch of several, all the others in L1b1a6 are West African
  • L1b1a9 (Spain, Italy, France and Morocco): either European or NW African
  • L1b1a13 (Tunisia and Italy): surely Tunisian originally
  • L1b1a12 (Tunisia, Spain and Portugal): again surely original from Tunisia
  • L1b1a14 (Italy and France)
  • L1b1a8 (Spain and Russia)
Another very characteristic and also arguably European-specific lineage is L3d1b1a, which is found only in Italy.

While the authors do not mention it, I think that Chandler 2005 spotted an L3d2 in Epipaleolithic Portugal (originally reported as "N"). However, using only the HVS region, the exact adscription is always somewhat dubious.

Also they performed an Structure analysis (fig. 4) and found that the carriers of the allegedly autochthonous European L lineages displayed very low to zero African affinity (and also near zero East Asian one) while those with the probably recent L lineages had more African and East Asian admixture (East Asian in this case is proxy for Native American most likely, indicating creole origin from America), although the apportions varied from individual to individual. The strength of this test can only be valid for very recent arrivals anyhow, otherwise the African autosomal genetics would be diluted beyond detection in a couple of centuries or so.

28 comments:

  1. Vary interesting! I've always doubt that all L lineages in Europe arrived at recent times.

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    2. I agree with ᧞eandertalerin and Wagg.
      However, I think more research needs to be done on L1b1a6. Reason being, I am aware of an Irish woman with Irish and Spanish ancestry for countless generations with this haplogroup, as well as a man who declared Irish, Portuguese, and Grecian ancestry. So it is not West African only.

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    2. Thanks for sharing the post. I think more research needs to be done on L1b1a6. Reason being, I am aware of an Irish woman with Irish and Spanish ancestry for countless generations with this haplogroup, as well as a man who declared Irish, Portuguese, and Grecian ancestry. So it is not West African only.

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    3. See also http://familyhistoryresearchbyjody.blogspot.com/2013/01/ancient-mitochondrial-dna.html

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    4. It would seem that after the 'Out of Africa' there were some lesse mini-OoA flows. You can't enclose the sea...

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  3. @ ᧞eandertalerin

    "Vary interesting! I've always doubt that all L lineages in Europe arrived at recent times."

    Same here.

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  4. Maju,

    In 23andMe, I have the following L relatives:

    L1b1a x 2 - German names
    L1c2a1b - German name (Northern European ancestry)

    L2a1 x 2 - Unknown
    L2a1 - German
    L2a1a/E1b1a - Unknown
    L2a1a1/I2a2 - Guyana/Ireland
    L2c2 - Multiple Region ancestry

    L3b1a1/E1b1b1a2* - Unknown
    L3f1b3 - Unknown
    L3e5/I1* - Unknown
    L3b1a - Unknown
    L3e2b - Cuba
    L3d1-5/R1b1b2a1a1d1* - Unknown
    L3k/E1b1a8a - Cape Verde

    My Father:
    L0a2/R1b1b2a1a - Unknown

    L1b1a - Unknown
    L1c2a1b - German name (Northern European ancestry)
    L1c2b1 - Unknown

    L2a1 x 2 - Unknown
    L2a1 - Irish
    L2a1 - German
    L2a1h - Unknown
    L2a1a1/I2a2 - Guyana/Ireland

    L3b/E1b1a7a3a - Unknown
    L3b/R1b1b2a1a2f - Unknown
    L3b1a1/E1b1b1a2* - Unknown
    L3b1a - Unknown
    L3d1-5/R1b1b2a1a1d1* - Unknown
    L3d1b/R1b1b2a1a1* x 2 - Cuba/Ireland
    L3e2a - Unknown
    L3e2b/I1* - Unknown
    L3k/E1b1a8a - Cape Verde

    My Mother:
    L0a1a - Unknown
    L0a2a1/R1b1b2a - Unknown

    L1b1a6/I1 - Unknown
    L1b1a - German name
    L1b1a/R1b1b2a1a1d1* - German
    L1c1d - Unknown
    L1c3a1a/E1b1a7a - Unknown
    L1c2a1b - German name (Northern European ancestry)

    L2a1 - Unknown
    L2a1/B1* - Unknown
    L2b1a3/I1* - Ireland/Italy
    L2a1a/E1b1a - Unknown
    L2a1/E1b1b1c1 - Unknown
    L2c2 - Multiple Region ancestry

    L3f1b3 - Unknown
    L3e2b1a/I1* - Unknown
    L3e5/I1* - Unknown

    L4b - Ireland/Jamaica

    ReplyDelete
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    1. What do you mean by "L relatives"? They are from many different lineages.

      Or just meaning that are all people of more or less European ancestry which have L(xM,N) mtDNA lineages?

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  5. @Maju,

    I mean that based on my 23andMe results, all the people above are blood/genetic relatives of mine, who happen to have mtDNA L lineages.

    I've reached out to all of these people, and am in contact with some, and some have decided not to engage, and so are "Unknown".
    As you know, I am 100% Irish, and of those I am in contact with, a number are 100% European, including one Irish person, and a few Germans and others with German names.

    Just a few more data points, that's all.

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  6. Important paper. Thanks for putting it up.

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  7. On my mother's side: L3D1B

    On my father's side: RP310

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  8. I don't know if it's just me or if everybody else encountering problems with your blog.
    It seems like some of the text within your content are running off the
    screen. Can somebody else please comment and let me know if
    this is happening to them too? This might be a issue with my browser
    because I've had this happen previously. Cheers

    ReplyDelete
    Replies
    1. It may be an issue of your browser or screen resolution, are you watching via a phone per chance? I have absolutely no problem and actually 1/4 of the screen is just filler background. Nobody else has complained before that I can recall.

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  9. My Maternal DNA line is L3f1b3. Anyone know the history of this line?
    Jerry

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    1. L3f1b4a, a close relative, is specifically Bantu in Southern Africa: https://forwhattheywereweare.blogspot.com/2014/02/sw-african-bantu-matrilineages.html

      L3f1b3 was reported in Chad by Behar 2008, on which I took these notes: http://leherensuge.blogspot.com/2010/03/reviewing-mtdna-l-lineages-notes-l3-l4.html

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    2. No idea what you mean, sorry.

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  10. Iam African American with only 16.5% European ancestry and my mtdna haplogroup is L3e2a

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    1. Almost certainly an African lineage. In the notes I took years ago (from Behar 2008 data, see second link in my previous reply to "Unknown") it is documented in West Africa and North Africa.

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    2. Hi there just to add to the is discussion here are my results using AfricanAncestry:

      We have determined that you share
      maternal genetic ancestry with Yoruba and Fulani people in Nigeria today.
      We compared parts of your maternally inherited DNA (mtDNA) to that of people from around the world,
      to look for matches. Using the largest set of African mtDNA samples available today, we found
      identical, 100% matches for you with the mtDNA of Yoruba and Fulani people. This means that at some
      point in the 500 - 2,000 year history of your maternal lineage (mother to mother to mother…) there was
      a Yoruba and Fulani woman.
      Our analysis focuses on Hypervariable Regions 1, 2 and 3 (HVR1, HVR2 and HVR3) of your mtDNA.
      Out of the 3 billion parts of your DNA, the variants below are unique to your maternal lineage and
      indicate DNA sequence patterns that you share with some Yoruba and Fulani. The combination of HVR
      variants determines your membership in Haplogroup L3e2b*. Your statistical confidence measure, or
      Sequence Similarity Score, is 100%.

      I would encourage you all to do testing with them as well as their samples of African lineage is quite extensive and can clear up the "unknowns". I asusbect a lot of that unknown is due to Fulani migration patterns and encounters with North Africans. For my part I'm Afro Guyanese.

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  11. Hello,

    Very interesting article really. So the lines L0 / L1 / L2 / L3 / up to 6, could once again prove the African origin of humanity. I am a Bantu from Gabon and yet I do not think that mankind "was born in Africa but rather in Asia between India and the East. It is in Asia that we find the greatest variety of the human race. So I won't say African origin, but maybe black? Now for the presence of black blood in europe especially in the north, David Macritchie in his ancient and modern britons which dates from the 1880s, says that there was indeed a black African presence in the British Isles.

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    1. Hi, Shino. There is absolutely no doubt whatsoever about the African origin of Humankind, it's a scientific fact by now. This is not a matter of black vs white, because the ancestral phenotype of humans is black (highly pigmented at the very least, thinly curled hair, etc.) Africa is extremely diverse even if the Bantu expansion homogeneized it somewhat, and by Africa I mean south of the Sahara (North of it diversity is much much lower, just as it is in Eurasia-plus when compared to Africa), even relatively endgamous populations like the Hadza are much more diverse than any Eurasian-plus group.

      Also all the non-Africans have a single common origin, a relatively small branch of the pre-existent African diversity that went to Tropical Asia first and from there to Australia, back to West Asia (and from there to Europe, North Africa, Central Asia, etc.) and to NE Asia (and America).

      It was this radiation in Asia which produced the visible (but not so much genetic) diversity you observe. However the previous radiation in Africa also generated lots of diversity: the East-Southern African group (Hadza, Sandawe, Khoisan and legacy layers in modern mainline East African), the West and East Pigmy groups (two distinct populations), the mainline West Africans (from which the core Bantu element emerged much later) and the "stay at home" population of the Upper Nile which probably is the main component in Tribal Ethiopians, Southern Sudanese and such. It is from this last African branch from which the Asian-plus branch emerged. You may think that Tribal Ethiopians, Hadza, Bushmen, Baka Pygmies and Yoruba are the same... but they are not: they are more different among them in terms genetic than Europans, Chinese and Australian Aborigines. What happened is that Africans retained more or less the ancestral phenotype, while Asian-plus groups, especially outside of the Tropics, developed new phenotypes, in some cases because of adaptation to low sunlight conditions (white skin, very important for vitamin D production) and in other cases because of mysterious selection of Neanderthal hair texture (I'm persuaded that straight hair is of Neanderthal origin, at least the keratin genetics are). There are other unique traits that may require their own studies (some of them have been already researched, others not really) but in general it's just this branch having this "family air", that branch another one.

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  12. I don't think the people of West Africa and East are that different. However, they have the mitochondrial DNAs in common ranging from L0 to 6 and also the haplogroups A, B and E in common.

    But it's true that many people on earth have mitochondrial DNAs ranging from L1 to L3 in common, regardless of their skin color, their geographic distribution. It is even one of the most interesting genomes.

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    1. ... "ranging from L0 to 6"? Well that includes also Chinese, Britons, Indians, Australian Aborigines, Cherokees and Andamanese, among others. All Humankind is included in that description, you can picture macro-haplogroup M as L3m, N as L3n... and those are the only two matrilineages that emigrated in the out of Africa episode that is at the root of all non-African humankind. Non-Africans are also "Africans by ascendancy" and actually a branch of a particular subgroup of ancient Africans, those represented by the L3 haplogroup... who surely lived between Sudan and Eritrea, L2 near them but towards Chad Lake, L1 possibly in Cameroon-Gabon, L0 in central East Africa (Tanzania, Kenya, Uganda...) and the other haplogroups are much smaller but in East Africa associated to L3 mostly.

      Check http://phylotree.org/ to get a proper understanding of how the mtDNA tree is organized: we are all L, but for reasons both historical of the evolution of genetics around the year 2000 and practical (because of the huge size of the Asian-plus branch of humankind), M and N get their own letters, but they are still subsets of L3, which is a subset of L3'4, in turn a subset of L3'4'6, in turn a subset of L2'3'4'6, in turn a subset of L2"6, in turn a subset of L1"6 which is finally part of the ancestral common matrilineage L (or L0"6).

      Check the following entries to see how most likely human expansion in Africa (and only then into Asia) happened:

      > https://forwhattheywereweare.blogspot.com/2013/04/synthesis-of-spanish-language-series-on.html

      > http://leherensuge.blogspot.com/2010/03/early-expansion-of-h-sapiens-in-africa.html

      Of course there has been readmixture within Tropical and Southern Africa, notably because of the Bantu expansion (Iron Age) but still in many aspects groups like the Khoisan, the Pygmies, the Hadza and the various ethnicities of South Sudan and the Tribal region of Ethiopia are their own very distinct groups, genetically much more distinct among each other and relative to Niger-Kongo populations (Bantu included) than Chinese are to Germans.

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