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Thread: Pre-Columbian & Modern Native Americans in Eurogenes K36

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    Pre-Columbian & Modern Native Americans in Eurogenes K36

    1) Pre-Columbian samples:


























    2) Modern Native Americans:















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    I also found modern Mayans scoring few percent of "Malayan" admixture.

    The same "Malayan" admixture was present in two Botocudos (Bot15 & 17).

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    Some explanations from Davidski regarding admixtures in Eurogenes K36:

    An important point to keep in mind is not to take the ancestry proportions in Eurogenes K36 too literally. If you're, say, English, and you get an Iberian score of 12% this doesn't actually mean you have recent ancestry from Spain or Portugal. What it means is that 12% of your alleles look typical of the reference samples classified as Iberian, and this figure might only indicate recent Iberian admixture if it's clearly higher than those of other English users. But it calculates deep root similarities more than real recent ancestry.
    So I wonder why is Kennewick Man scoring European & African admixtures?

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    Those Botocudos were Polynesians (who are a mix of Taiwanese, South-East Asian and Oceanian):

    "Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil":

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370112/

    "Identification of Polynesian mtDNA in remains of Botocudo Amerindians from Brazil":

    http://www.pnas.org/content/110/16/6465.full

    Moreover, they were fully Polynesian (not mixed with Amerindians, Europeans, or Africans):

    "Botocudo Ancient Remains from Brazil":

    https://dna-explained.com/2015/07/02...s-from-brazil/

    The second interesting aspect of the genomic sequencing is that the remains did not show any evidence of admixture with European, Native American nor African individuals. More than 97% of their genome fits exactly with the Polynesian motifs. In other words, they appear to be first generation Polynesians. They carry Polynesian mitochondrial, Y and autosomal (nuclear) DNA, exclusively.


    http://www.popularmechanics.com/tech...ands-of-miles/

    Recent DNA has shown trading based out of Polynesia extended as far as South America and the Caribbean, but there have been questions to the exact timing. European traders are often thought to have led the spread of commerce across the globe, enabled by early Spanish and British explorers—but the actual story may be a bit more complex.
    Also Polynesians from Easter Island have Amerindian admixture:

    "Oceanian Genetics - Beginners Guide and FAQ":

    http://www.anthrogenica.com/showthre...-Guide-and-FAQ

    I am Polynesian however score some Native American. What does this mean?

    Polynesians from Easter Island and natives of South America met and mingled long before Europeans voyaged the Pacific. One study by Erik Thorsby suggests Native Americans likely arrived on Easter Island shortly after Polynesians. Other scientists’ state Pacific currents and Polynesian mastery of the waves make it more likely that the Polynesians were the voyagers. They may have sailed to South America, swapped goods for sweet potatoes and other items—and returned to their island with South American women. It is possible those Polynesians on Easter Island traveled back west to trade with east Polynesian countries. As you can see there are many possibilities.

    You may have had a Native American ancestor, but unless you score a good chunk of it on an autosomal test, it will be hard to confirm. The study by Thorsby stated that in the 27 living Easter Islanders who were tested, there was around 8% Native American in their genomes.

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    Nice compilation of Amerindians DNA. The picture becomes clearer and clearer.
    Unfortunate is naming Siberian admixture, if most of it comes from NE Asia, the Beringia region.
    Paleo Eskimo Q1a Q-Z780
    F999906 F999919 Clovis-Anzick-1
    Greenland 4kya N America, Montana 12.5kya
    Run time 14.29 Run time 18.2
    S-Indian 1.1 S-Indian -
    Baloch 2.66 Baloch 0.49
    Caucasian - Caucasian -
    NE-Euro 7.4 NE-Euro 1.51
    SE-Asian 0.48 SE-Asian 1.05
    Siberian 26.12 Siberian 1.17
    NE-Asian 12.11 NE-Asian 0.18
    Papuan - Papuan 0.23
    American 1.38 American 88.41
    Beringian 40.04 Beringian 5.25
    Mediterranean 1.33 Mediterranean 0.68
    SW-Asian 0.42 SW-Asian -
    San - San 0.17
    E-African 0.33 E-African -
    Pygmy - Pygmy 0.09
    W-African 6.62 W-African 0.76

    Interesting are Botocudo, clearly Polynesians of late arrival to America and completely unmixed with older population of South America. They must have sailed around the America to the other side.

    Eskimo look like fairly late arrival, and with agreement with archeology.
    Be wary of people who tend to glorify the past, underestimate the present, and demonize the future.

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    Quote Originally Posted by Tomenable View Post
    Some explanations from Davidski regarding admixtures in Eurogenes K36:



    So I wonder why is Kennewick Man scoring European & African admixtures?

    What could the results possibly mean, they must mean something other than what they show because........muhhh racism. Kennewich was a watered down Solutrean, well not exactly since his Y-haplotype was obviously Siberian, but he had a Solutrean mgh. He was relic population, a transition after the Clovis were defeated by the Siberians, an intermediate population who defeated the Clovis but in turn were defeated by purer Amerindians. A mirror to the events that occurred in the Central Asia, Turks replacing the Scythians, and the Mongols replacing the Turks.

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    Quote Originally Posted by PaleoRevenge View Post
    What could the results possibly mean, they must mean something other than what they show because........muhhh racism. Kennewich was a watered down Solutrean, well not exactly since his Y-haplotype was obviously Siberian, but he had a Solutrean mgh. He was relic population, a transition after the Clovis were defeated by the Siberians, an intermediate population who defeated the Clovis but in turn were defeated by purer Amerindians. A mirror to the events that occurred in the Central Asia, Turks replacing the Scythians, and the Mongols replacing the Turks.
    You're talking nonsense.

    Kennewick Man is "scoring European & African admixtures" because the results posted by Tomenable are crap.

    No haplogroup X has been found in the many pre-Neolithic European mtDNA samples, which makes the probability that the X2a in Kennewick Man came from the Solutreans slim to none.

    It's infuriating to me, two years after my discovery of genuine European admixture in a 6,000-year-old American sample, and a month after I showed that admixture to come from pre-LGM or Solutrean Europeans, that instead of people spreading the news of my discovery, the most important ancient DNA discovery that has ever been made, we have people like yourself still going on about Kennewick Man, two years after analysis of his DNA showed him to be a run-of-the-mill Amerindian.

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    Quote Originally Posted by Genetiker View Post
    No haplogroup X has been found in the many pre-Neolithic European mtDNA samples, which makes the probability that the X2a in Kennewick Man came from the Solutreans slim to none.
    But Native American Y-DNA C2b1a1a-P39 could potentially be Solutrean. Pre-Magdalenian Europe was dominated by YDNA haplogroup C, as recent studies (e.g. Fu et al. 2016, "The Genetic History of Ice Age Europe") show.

    I. Native American mtDNA includes:

    1) Typically East Asian mtDNA:

    A2
    B2
    D1
    D2a
    D3
    D4h3a
    D4e1c

    2) West Eurasian (might be also ANE) mtDNA:

    X2a
    X2g

    3) Either Ancient North Eurasian (ANE) or East Asian:

    C1b
    C1c
    C1d
    C4c

    II. Native American (and Inuit) Y-DNA includes:

    Q1a2a1-L54
    Q1a1a-F746
    C2b1a1a-P39

    These Y-DNA haplogroups could be from any group, not just from Mongoloid East Asians.

    Haplogroup Q1a could be from Ancient North Eurasians (who were mostly "Caucasoid").

    Hg C2b1a1b-F3985 - closely related to Native American C2b1a1a-P39 - can be found among modern Europeans (samples from Germany, Slovakia, Austria, Czech Rep. and Poland). It might be Solutrean.

    C1b is also typical for Australian Aborigines. Maybe C2b was from Onge-like admixture?

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    Quote Originally Posted by Genetiker View Post
    No haplogroup X has been found in the many pre-Neolithic European mtDNA samples
    Mind you, that no actual Solutrean samples have been published so far! We have Aurignacian, Gravettian and Magdalenian samples - but no Solutrean. What if mtDNA X existed in Solutrean Europe and after the demise of Solutrean culture it went extinct in Europe? Then it could be re-introduced into Europe with Neolithic or Steppe immigrants.

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    Quote Originally Posted by Genetiker View Post
    You're talking nonsense.

    Kennewick Man is "scoring European & African admixtures" because the results posted by Tomenable are crap.

    No haplogroup X has been found in the many pre-Neolithic European mtDNA samples, which makes the probability that the X2a in Kennewick Man came from the Solutreans slim to none.

    It's infuriating to me, two years after my discovery of genuine European admixture in a 6,000-year-old American sample, and a month after I showed that admixture to come from pre-LGM or Solutrean Europeans, that instead of people spreading the news of my discovery, the most important ancient DNA discovery that has ever been made, we have people like yourself still going on about Kennewick Man, two years after analysis of his DNA showed him to be a run-of-the-mill Amerindian.
    I think most people assume that this chunk of alleles is shared ancestry among European and Siberians, probably having to do with MA-1 or Afontova Gora

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    Quote Originally Posted by Tomenable View Post
    Mind you, that no actual Solutrean samples have been published so far! We have Aurignacian, Gravettian and Magdalenian samples - but no Solutrean.......
    Yes, conspicuously absent from the landmark paper revealing the Villabruna cluster. I'm very curious about Solutrean and I'm willing to bet we see even earlier Villabruna-like samples here. I'm only basing this on their apparent penchant for being the the best refugia, which is where we see Solutrean.

    Maybe this is that Paleo-Iberian R1b that all the anti-yamnaya people have hoped for.

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    Quote Originally Posted by Tomenable View Post
    But Native American Y-DNA C2b1a1a-P39 could potentially be Solutrean. Pre-Magdalenian Europe was dominated by YDNA haplogroup C, as recent studies (e.g. Fu et al. 2016, "The Genetic History of Ice Age Europe") show.
    All the C in ancient European samples is C1, not C2.

    Quote Originally Posted by Tomenable View Post
    Hg C2b1a1b-F3985 - closely related to Native American C2b1a1a-P39 - can be found among modern Europeans (samples from Germany, Slovakia, Austria, Czech Rep. and Poland). It might be Solutrean.
    The TMRCA of C2b1a1-F3918 is 13,300 years ago, so it couldn't possibly be Solutrean.

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    Quote Originally Posted by Tomenable View Post
    Mind you, that no actual Solutrean samples have been published so far! We have Aurignacian, Gravettian and Magdalenian samples - but no Solutrean.
    Table R81 on pages 531 and 532 of this document includes two mtDNA samples, 2NE and 3NE, that are said to be from a Solutrean layer in the Caves of Nerja, near the southern Mediterranean coast of Spain. Only parts of HVR-I were sequenced.

    2NE was assigned to haplogroup J*. It has the mutation 16126C, one of three that defines JT. It lacks 16294T, one of the mutations that defines T.

    3NE wasn't assigned to a haplogroup. It has the mutation 16192T, which is one of the two that defines U5, but it lacks 16270T, the other of the two.

    One would like to have the complete mitochondrial genomes for those samples before concluding that some Solutreans were J.

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    Quote Originally Posted by holderlin View Post
    I think most people assume that this chunk of alleles is shared ancestry among European and Siberians, probably having to do with MA-1 or Afontova Gora
    Then "most people" are wrong.

    If the Chinchorro sample just had the Mal'ta-related DNA found in all Amerindians, then:


    • It would be located around pure Amerindians in PCA plots. It isn't. Instead it's shifted far away from them, in the direction of Caucasoids, and more specifically, Europeans.
    • It would be modeled as only having ancestry from pure Amerindians in qpAdm analyses. It isn't. Instead it's modeled as having around 45% ancestry from various Caucasoid, including European, populations.
    • It would only have Amerindian components in admixture analyses. It doesn't. Instead, 30–40% of its DNA is made up of non-Amerindian, mostly Caucasoid components.



    In my high-resolution K = 9 and K = 13 admixture analyses, the Chinchorro sample has a significant amount of the light blue component, which is completely absent in the Mal'ta and Afontova Gora samples, which means that the European admixture can't possibly be from those Siberian populations, or from any genetically similar population. The light blue component is, however, found in the pre-LGM European samples.

    In my high-resolution K = 13 analysis, the medium blue component is completely absent in the Chinchorro sample. The Mal'ta and Afontova Gora samples are made up mostly of that component, which again means that the European admixture can't possibly be from those Siberian populations, or from any genetically similar population. Instead of the medium blue component, the Chinchorro sample has a significant amount of the dark blue component. The pre-LGM European samples also have significant amounts of the dark blue component, and an absence of the medium blue component.

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    Quote Originally Posted by Genetiker View Post
    Then "most people" are wrong.

    If the Chinchorro sample just had the Mal'ta-related DNA found in all Amerindians, then:


    • It would be located around pure Amerindians in PCA plots. It isn't. Instead it's shifted far away from them, in the direction of Caucasoids, and more specifically, Europeans.
    • It would be modeled as only having ancestry from pure Amerindians in qpAdm analyses. It isn't. Instead it's modeled as having around 45% ancestry from various Caucasoid, including European, populations.
    • It would only have Amerindian components in admixture analyses. It doesn't. Instead, 30–40% of its DNA is made up of non-Amerindian, mostly Caucasoid components.



    In my high-resolution K = 9 and K = 13 admixture analyses, the Chinchorro sample has a significant amount of the light blue component, which is completely absent in the Mal'ta and Afontova Gora samples, which means that the European admixture can't possibly be from those Siberian populations, or from any genetically similar population. The light blue component is, however, found in the pre-LGM European samples.

    In my high-resolution K = 13 analysis, the medium blue component is completely absent in the Chinchorro sample. The Mal'ta and Afontova Gora samples are made up mostly of that component, which again means that the European admixture can't possibly be from those Siberian populations, or from any genetically similar population. Instead of the medium blue component, the Chinchorro sample has a significant amount of the dark blue component. The pre-LGM European samples also have significant amounts of the dark blue component, and an absence of the medium blue component.
    I saw this and I didn't quite know what to make of it at the time. I appreciate the breakdown, and I see what you're saying. It's pretty amazing, especially with the legends tied to this sort of thing.

    In your high res K-13 there are other Amerindians that show the same admixture, but in smaller amounts. Perhaps these are possibly from post-Columbian admixure?

    The component looks like European Neolithic and South Asian, and Chinchorro's have way more than any of the other Native American samples, so the speculation that they were "europeans" or "cacausoids" based on their skulls was large in part correct. But I don't know that we can say that it came from paleo-europeans from across the Atlantic. I suppose if you add in all of the oral history about european looking people, then it surely begs the question.

    Among ancient samples Goyet Q376-19 looks to have similar components.

    I could buy it, tentatively, but that's just me.
    Last edited by holderlin; 18-04-17 at 17:10. Reason: specificity

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    Quote Originally Posted by holderlin View Post
    I saw this and I didn't quite know what to make of it at the time. I appreciate the breakdown, and I see what you're saying. It's pretty amazing, especially with the legends tied to this sort of thing.

    In your high res K-13 there are other Amerindians that show the same admixture, but in smaller amounts. Perhaps these are possibly from post-Columbian admixure?

    The component looks like European Neolithic and South Asian, and Chinchorro's have way more than any of the other Native American samples, so the speculation that they were "europeans" or "cacausoids" based on their skulls was large in part correct. But I don't know that we can say that it came from paleo-europeans from across the Atlantic. I suppose if you add in all of the oral history about european looking people, then it surely begs the question.

    Among ancient samples Goyet Q376-19 looks to have similar components.

    I could buy it, tentatively, but that's just me.
    There are no Native American oral histories that white Europeans came to America. They are all recent colonialist mistranslations of Native American oral history twisted into modern white American oral histories and myths that they themselves attribute to the NAs, , and their own desperate wishful thinking that they are anything but a common settler to the Americas.

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    interesting stuff

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    Quote Originally Posted by LeBrok View Post
    Interesting are Botocudo, clearly Polynesians of late arrival to America and completely unmixed with older population of South America. They must have sailed around the America to the other side.
    The mystery of the two unmixed Polynesian Botocudos was solved recently when it was revealed that in the late 19th century a New Zealand museum loaned two Polynesian skulls (one Maori and one Moriori) to the museum in Rio that acquired the Botocudo skulls at around the same time. Clearly the skulls were mistakenly placed together and all catalogued as Botocudo.

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    But the mtDNA of the two botocudos is B4a1a1, typical of recent Polynesians (Gonçalves et al., 2010, 2013). They are from 1479 to 1842 AD, and their autosomes are linked to Polynesia (not New Zeland), especially Easter Island, containing no genetic mixture with Native Americans (Malaspinas et al., 2014). Along the same line of contact between Polynesia and South America, autosomal DNA from Surui and Karitiana individuals from Amazonia and Xavante from central Brazil showed a genetic connection with Australo-Asian individuals (Skoglund et al., 2015). Conversely, autosomal DNA analysis of Easter Island individuals showed that there was hybridization with Native Americans between 1280 and 1425 AD, inserting about 8% of Amerindian DNA into islanders (Moreno-Mayar et al., 2014). The chicken was already in South America and the sweet potato in the Pacific before the arrival of Europeans certainly carried by Polynesians, masters of deep-sea navigation, with more maneuverable boats than our latin-rig boats. Easter Island ethnography also speaks of a land far away.The arid Easter Island now swept by the Antarctic winds before the Polynesians arrived, was covered with palm trees like any other Pacific Island. The Polynesians did not exterminate the natural vegetation nor planted at least 887 statues, some around 80 tonnes, on any other island. How the island fed the workforce to transport 80-ton statues. It seems to be the ruins caused by the roar of the capital of a political entity that exploited at least the American South Pacific coast, one of the richest fishing grounds in the world.

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    Quote Originally Posted by jose luis View Post
    But the mtDNA of the two botocudos is B4a1a1, typical of recent Polynesians (Gonçalves et al., 2010, 2013). They are from 1479 to 1842 AD, and their autosomes are linked to Polynesia (not New Zeland), especially Easter Island, containing no genetic mixture with Native Americans (Malaspinas et al., 2014).
    The native peoples of New Zealand (Maori) and the Chatham Islands (Moriori) are Polynesians and are genetically closely related to Easter Islanders, Tahitians, Hawaiians, Rarotongans and other East Polynesians. They all descend from a small founding population that sailed east from Samoa around one thousand years ago. B4a1a1 is the typical mtDNA of Maori and Moriori people.

    As someone with Maori ancestry myself, I share so much DNA with hundreds of Hawaiians and other East Polynesians that 23andMe predicts that many of them are my third cousins, whereas in reality they are more likely to be my thirtieth cousins. The separation between the Hawaiian and Maori populations happened over 800 years ago, but all East Polynesians appear to be closely related because our ancestors have been through a similar series of population bottlenecks.

    There is evidence that East Polynesians, especially Easter Islanders, had contacts with South America, and I don't dispute that. I was just pointing out that the two Polynesian skulls sent in 1890 by a New Zealand museum to the same Brazilian museum that had the Botocudo skulls, and a subsequent mix-up, is the most likely explanation for the two "Botocudo" skulls that appear to be 100% Polynesian with no genetic mixture with Native Americans.

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    The genomic signature of Australasia has been present for 10,400 years in Brazil and still is a challenge to the scholars.

    https://www.eurekalert.org/pub_relea...-tnf110918.php

    Code:

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    Thank you very much for the correction Mr. Tamakore. If no traces of pure Polynesians were found on the pre-Columbian South Pacific coast of America, much less should they appear in Brazil. However, a Polynesian colonizing boat sailing with the Roaring Forties winds, departing from New Zealand, in approximately 30 days (even less if it is from the Chatham Islands) is disembarking on the other side of the Strait of Magellan, a small crowd of people, with hunting / fishing accoutrements and provisions for some time. Hence access to the botocudos region is easy. Then they could send news home in approximately 60 days, sailing with the same winds to the east, south of Africa and Australia. The oral traditions of the Polynesians do not speak of they ever circumnavigating the planet, which they may have done at least inadvertently, but they also do not speak of contacts with the American continent from north to south, however they are blatant. The oral traditions of the Polynesians, however, speak of the exploration of the sub-Antarctic and the Antarctic where the circum-Antarctic sea current could also lead them to circumnavigate the planet, perhaps more easily. With their mastery of open sea orientation and the various types of sails (some superior to those of Europe: the various claw sails from which the Latin-rig sail was developed) the Polynesians may have done a lot sailing in nutshells. The claw sail is still something of an enigma of aerodynamics today. How did they discover the claw sail in the short time that they are in the Pacific? Did the spirits of the wind teach them?
    Last edited by jose luis; 24-01-20 at 20:21. Reason: minor changes

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    Quote Originally Posted by Duarte View Post
    The genomic signature of Australasia has been present for 10,400 years in Brazil and still is a challenge to the scholars.

    https://www.eurekalert.org/pub_relea...-tnf110918.php
    I suspect this genomic signature of Australasia is actually the genomic signature of the early out of Africa migration along the southern coast of Asia. That signature was preserved more strongly in Australasia for tens of thousands of years due to isolation from other populations.

    My theory is that a small trace of the genomic signature of the early southern route migration was present in the first Americans and was then amplified in some Amazonian tribes. For example, the Clovis sample on GEDmatch (F999919) has 0.23% Papuan according to Eurogenes K36. That may not be a reliable number, but it could be indicative.

    Why would this genomic signature only be amplified in the Amazon? Perhaps because adaptations to a tropical rain forest environment were present in the population that migrated along the southern coast of Asia, and those genes were positively selected for in some Amazonian people. They may not have been positively selected for in North East Eurasian, Beringian or northern North American environments, but as long as the alleles remained in the genome it's possible they could be subject to positive selection once again in Amazonia.

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    Quote Originally Posted by Tamakore View Post
    I suspect this genomic signature of Australasia is actually the genomic signature of the early out of Africa migration along the southern coast of Asia. That signature was preserved more strongly in Australasia for tens of thousands of years due to isolation from other populations.

    My theory is that a small trace of the genomic signature of the early southern route migration was present in the first Americans and was then amplified in some Amazonian tribes. For example, the Clovis sample on GEDmatch (F999919) has 0.23% Papuan according to Eurogenes K36. That may not be a reliable number, but it could be indicative.

    Why would this genomic signature only be amplified in the Amazon? Perhaps because adaptations to a tropical rain forest environment were present in the population that migrated along the southern coast of Asia, and those genes were positively selected for in some Amazonian people. They may not have been positively selected for in North East Eurasian, Beringian or northern North American environments, but as long as the alleles remained in the genome it's possible they could be subject to positive selection once again in Amazonia.
    check C-L1373*
    https://www.yfull.com/tree/C-L1373/
    C-L1373* and Q-Z780 are the oldest Native American clades, most of them were replaced by the younger Q-M3 clade
    C-L1373* surivies amongst Natives in the Amazonian forests of Ecuador

    I guess C-L1373* had some Australasian admixture when it entered America

  25. #25
    Regular Member Duarte's Avatar
    Join Date
    08-01-19
    Location
    Belo Horizonte
    Posts
    1,955

    Y-DNA haplogroup
    R1b-DF27-FGC35133

    Ethnic group
    Portuguese-Brazilian
    Country: Brazil



    1 members found this post helpful.
    I donated my DNA data for scientific purposes. Next, my K36 results and my mtDNA report (a screenshot and the translation of the report, absent the tables, from Spanish to English). I also post, next, my most recent mitochondrial analysis made by Yfull.

    Eurogenes K36

    European Calculator with 36 global ancestral clusters

    Calculator model by David Wesolowski of the Eurogenes Project

    http://bga101.blogspot.co.uk/2013/03...-gedmatch.html

    Discuss your results and all aspects of genetic ancestry and health at the independent yourdnaportalforum




    To view your results in a 3D pie chart change you phone orientation from portrait to landscape and the chart will appear.




    Population Percentage
    Amerindian 0.80%
    Arabian 0.00%
    Armenian 0.69%
    Basque 5.00%
    Central African 0.00%
    Central Euro 0.00%
    East African 0.94%
    East Asian 0.00%
    East Balkan 2.93%
    East Central Asian 0.00%
    East Central Euro 0.00%
    East Med 0.00%
    Eastern Euro 2.22%
    Fennoscandian 1.10%
    French 8.07%
    Iberian 21.32%
    Indo-Chinese 0.00%
    Italian 25.66%
    Malayan 0.00%
    Near Eastern 1.21%
    North African 5.46%
    North Atlantic 7.55%
    North Caucasian 0.00%
    North Sea 5.35%
    Northeast African 0.00%
    Oceanian 0.33%
    Omotic 1.18%
    Pygmy 0.71%
    Siberian 0.00%
    South Asian 0.00%
    South Central Asian 0.00%
    South Chinese 0.00%
    Volga-Ural 0.00%
    West African 2.85%
    West Caucasian 0.00%
    West Med 6.62%







    Mitochondrial DNA Analysis Certificate


    I hereby certify that the mitochondrial DNA sequence of a sample obtained from Duarte (FTDNA # xxxxxx) differs from the Cambridge Reference Sequence(1) in the indicated positions, due to the presence of the bases designated A, C, G or T:


    Control Region 5 ́ (between positions 16024 and 16569): 16182C 16183C 16189C 16217C 16241G 16519C


    Control Region 3 ́ (between positions 1 and 576): 73G 103A 152C 263G 315iC 499A


    Coding Region (between positions 577 and 16023): 750G 827G 1438G 2706G 3547G 3866C 4769G 4820A 4977C 6473T 7028T 8269A 8281-8289d 8638G 8860G 9950C 11177T 11719A 13590A 13594G 14470C 14766T 15326G 15535T

    The letters A, C, G or T designate the base that occurs in each position indicated in the Reference Sequence. The letters d and i as a suffix of a position indicate deletion or insertion at that position, respectively. The changes indicated are distinctive of this sample and can be compared with those of other people to confirm or rule out kinship relationships. Private polymorphisms acquired from the nodal sequence for B2 are underlined in red.


    The sample is assignable to the following clade of the human mitochondrial tree:

    Haplogroup: B2
    Sub-haplogroup2: B2az(2)
    Continental origin of the haplogroup: America
    Regional distribution of the sub-haplogroup: Brazil, Argentina, Uruguay, Paraguay


    (1 )The Cambridge Reference Sequence is the internationally accepted standard of comparison. (2) Provisional nomenclature created for the purposes of this report Dr. Claudio M. Bravi IMBICE Population Molecular Genetics Laboratory

    Analysis of the ethnic / geographical distribution of the lineage


    1- Distribution of B2az and analysis of mitogenomes


    The mitochondrial DNA sequence analyzed here belongs to haplogroup B2, which is unique to the American continent and would have originated in Beringia between 14,000 and 19,000 years ago. Among the> 4,500 complete mitochondrial sequences of Native American origin available (published in academic media or available in open access databases by donation of FTDNA clients), about 1406 belong to haplogroup B2. The sequence analyzed here can be considered part of a new subhaplogroup that we provisionally call B2az, defined by the occurrence of four polymorphisms (see Figure 1). Duarte’s sequence shares membership in B2az with 39 other individuals from Brazil (including Mbyá, Tupiniquim, and Xavante natives), Argentina, Paraguay, Germany, and the United States. This last sequence, obtained from a "Hispanic" in Texas, would probably be of recent South American origin. The present in Germany derives from an adopted person.


    Since arriving in America, the lineage analyzed here has accumulated seven polymorphisms, according to the following temporality:
    1- Initially the changes that define B2az were accumulated: 103, 152, 16241 and 14470, in unknown temporal sequence;
    2- then 3866 occurred, which defines the B2az3 branch, present in 17 of the 39 B2az sequences; 3- Then 8638 occurred, found in 12 of those mentioned in point 2;
    4- 8269 finally happened, found in ten of those mentioned in point 3.


    The phylogenetic analysis of the sequences available for B2az allows us to recognize three main branches, B2az1 to B2az3, which bring together 36 of the 39 known full sequences. The complete sequence of Duarte has, at the moment and in our database, five matches at genetic distance 0, four of which trace his remote maternal ancestors to SP (1) or MG (3).


    2- Distribution of B2az based on control region analysis


    B2az carries a combination of three polymorphisms in the control region (16241-103-152) that allows us to broaden the search in a database of> 27,000 sequences of the control region of native origin. A search for the motif that defines B2az yielded the discovery of 108 sequences distributed between Brazil, Argentina, Paraguay and Uruguay. Most of the cases in Brazil are concentrated in populations in the south and southeast of the country, with a few in Amapá and Alagoas (see Annex I). In Argentina, B2az occurrences are concentrated in the Northeast and Litoral of the country, areas bordering those with the highest frequency in Brazil, and there are also sporadic cases in Buenos Aires, Catamarca and Patagonia that probably reflect relatively recent internal migration or from Paraguay (see Annex I).


    The reported cases for indigenous populations are restricted to Mbyá Guaraní from Argentina, as well as Kayapó, Xavante and Parakanã from Brazil (see Annex II).


    3- Distribution of matches in sequences of the control region (HVR1 + HVR2 in FTDNA)


    When the analysis is restricted to the 1112 base pair fragment of the control region it is possible to compare the sequence of interest with a much larger database. This gain in amplitude, however, is accompanied by lower resolution: the matches eventually found reflect a comparison of less than 7% of the total length of the mtDNA.


    The sequence analyzed here carries the combination of the ancestral combination of B2az, that is, the presence of changes 103-152-16241 on the nodal for B2. This unique set of changes makes it easy to track matches. A search in a database that accumulates 17,759 sequences of the control region (HVR1 + HVR2) allowed the finding of six perfect matches(1):


    - seven matches for the complete control region (16024-16569; 1-576) in a sample of 19 indigenous Parakanã,
    - four matches for the complete control region (16024-16569; 1-576) in a sample of 142 inhabitants of Greater São Paulo;
    - three matches for the complete control region (16024-16569; 1-576) in a sample of 367 “whites” from São Paulo;
    - two matches for the complete control region (16024-16569; 1-576) in a sample of 68 “pardos” from São Paulo;
    - a match for the complete control region (16024-16569; 1-576) in a sample of 80 inhabitants of Santa Catarina;
    - three matches for the complete control region (16024-16569; 1-576) in a sample of 203 inhabitants of Rio de Janeiro;
    - three matches for the complete control region (16024-16569; 1-576) in Argentines from Curuzú-Cuatiá (Corrientes, N = 146), Buenos Aires (N = 187), and Ramal (Jujuy, N = 41).
    - a match for the partial control region (16024-16365; 73-340) in one of 100 Mbyá Guaraní natives of Misiones, Argentina.


    (1) When evaluating matches, we ruled out variation in the poly-C tracts at positions 303-315, 16182-16193, and 573.


    - two matches for the partial control region (16024-16365; 73-340) in a sample of 167 inhabitants of Alagoas;
    - a match for the partial control region (16060-16362; 72-337) in one of 99 “targets” from SE Brazil (mainly MG);
    - four matches for the partial control region (16024-16400; 73-576) in a sample of 290 inhabitants of SE Brazil (SP, MG, ES, RJ);
    - a match for the partial control region (16024-16368; 73-340) in one of 48 inhabitants of SW Brazil;

    - two matches for the partial control region in a sample of 190 cariocas.



    4- Conclusions


    The Duarte sequence is part of a sub-haplogroup not yet formally described that has a skewed distribution towards the south and southeast of Brazil and border areas of Argentina, Paraguay and Uruguay. However, it should be noted that the known distribution may not be representative due to the lack of studies in large areas of Brazil.


    Last edited by Duarte; 14-01-21 at 17:45.

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