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Thread: Genetics Question

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    Genetics Question

    Question 1: Can R1a m513 be directly mutated into R1a z93?
    And Can R1a z93 originate only in M513, not in M420?

    “mutations understood to be equivalent to m420 include m449, m511, m513, l62, and l63”

    in this work, we first aim to address the question of the familial and social organization of scytho-siberian groups by studying the genetic relationship of 29 individuals from the aldy-bel and sagly cultures using autosomal strs. (…) were obtained from 5 archeological sites located in the valley of the eerbek river in tuva republic, russia (fig. 1).

    y-chromosome haplogroups were first assigned using the isogg 2018 nomenclature. in order to improve the precision of haplogroup definition, we also analyzed a set of y-chromosome snp (supplementary table 2). nine samples belonged to the r1a-m513 haplogroup (defined by marker m513) and two of these nine samples were characterized as belonging to the r1a1a1b2-z93 haplogroup or one of its subclades. six samples belonged to the q1b1a-l54 haplogroup and five of these six samples belonged to the q1b1a3-l330 subclade. one sample belonged to the n-m231 haplogroup.

    in the same way, although two groups, of two and three individuals, shared haplotypes belonging to the r1a-m513 haplogroup, these groups likely include a father/son pair (arz-t2 and arz-t12). therefore, among nine r1a-m513 men, we found six independent haplotypes, one being present in two independent instances. all r1a-m513 haplotypes, however, including those attributed to the r1a1a1b2-z93 subclade, only differed by one-step mutations, across 5 loci at most. all r1a-m513 individuals were buried on the same site, eki-ottug 2, in a single kurgan.


    Modern tuva people: M198


    Interestingly, in western Truvinian sample, the frequency of haplogroup R1a1a was considerably
    lower than in the central sample. Based on the closeness of the Altai, which is populated by the representatives of a more Caucasoid SouthSiberian racial
    type, it would be reasonable to expect the west–east decrease of the R1a1a frequency on the territory of Tuva. However, this was not observed, and the change of the haplogroup frequency was rather the opposite, as the eastern samples demonstrated maximum frequency of this haplogroup. At the first glance, the result obtained is paradoxical. Specifically, in terms of anthropology, the most Caucasoid population of the western parts of Tuva displays the minimum of haplogroup R1a1a, while in the most Mongoloid population of Todja, the maximum of this haplogroup is observed


    modern western chinese: M17
    Geographic Region Population Marker Haplogroup
    Yunnan Hui R1a-M17 R1a1*
    Guizhou Han R1a-M17 R1a1*
    Jiangsu Han R1a-M17 R1a1*
    Henan Han R1a-M17 R1a1*
    Henan Han R1a-M17 R1a1*
    Henan Han R1a-M17 R1a1*
    Henan Han R1a-M17 R1a1*
    Henan Han R1a-M17 R1a1*
    Anhui Han R1a-M17 R1a1*
    Anhui Han R1a-M17 R1a1*
    Shanxi Han R1a-M17 R1a1*
    Shanxi Han R1a-M17 R1a1*
    Shannxi Han R1a-M17 R1a1*
    Gansu Han R1a-M17 R1a1*
    Gansu Han R1a-M17 R1a1*
    Gansu Han R1a-M17 R1a1*
    Liaoning Han R1a-M17 R1a1*
    Xizang Tibetan R1a-M17 R1a1*
    Xizang Tibetan R1a-M17 R1a1*
    Xizang Tibetan R1a-M17 R1a1*
    Inner Mongolia Mongolian R1a-M17 R1a1*
    Inner Mongolia Mongolian R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Uygur R1a-M17 R1a1*
    Xinjiang Hazak R1a-M17 R1a1*
    Xinjiang Hazak R1a-M17 R1a1*
    Xinjiang Hazak R1a-M17 R1a1*
    Xinjiang Hazak R1a-M17 R1a1*
    Xinjiang Hazak R1a-M17 R1a1*
    Ningxia Hui R1a-M17 R1a1*
    Ningxia Hui R1a-M17 R1a1*
    Xinjiang Xibe R1a-M17 R1a1*
    Last edited by johen; 27-09-19 at 09:02.

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    Quote Originally Posted by johen View Post
    Question 1: Can R1a m513 be directly mutated into R1a z93?
    And Can R1a z93 originate only in M513, not in M420?

    “mutations understood to be equivalent to m420 include m449, m511, m513, l62, and l63”

    Modern tuva people: M198

    Someone in the other forum said that EHG has M198. Is it correct?

    "For instance, the Kareiean hunter-gatehrer is M198+, which is a mutation just upstream of M417 found in the Sredny Stog sample."




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    1 members found this post helpful.
    Quote Originally Posted by johen View Post
    Question 1: Can R1a m513 be directly mutated into R1a z93?
    And Can R1a z93 originate only in M513, not in M420?

    “mutations understood to be equivalent to m420 include m449, m511, m513, l62, and l63”
    R-Z93 is downstream of R-M459>M198>M417>Z645,

    The quote you provided says "mutations understood to be equivalent to M420" which in other words they are phyloequivalent; meaning they define this specific haplogroup. SNPs are like names in a family tree. You aren't descended from your uncle, but you are descended from your father, you share a common ancestor with your uncle (common ancestor being the grandfather), this is much like how phylogeny of the Y-tree works.

    For example R-Z283 is downstream of R-Z645, just like R-Z93. Haplogroups R-Z93 and R-Z283 are not direct descendants of each other, but instead share a common ancestor in R-Z645.

    Here are some Y-Full links to help better visualize the phylogeny or R1a. The links take a while to load as the R1a and R1b trees on YFull are quite extensive in comparison to other haplogroups.

    https://www.yfull.com/tree/R1a/
    https://www.yfull.com/tree/R-M198/
    https://www.yfull.com/tree/R-Z93/
    https://www.yfull.com/tree/R-M458/

    Quote Originally Posted by johen View Post
    Someone in the other forum said that EHG has M198. Is it correct?

    "For instance, the Kareiean hunter-gatehrer is M198+, which is a mutation just upstream of M417 found in the Sredny Stog sample."



    Indeed M198 is just upstream of M417, note the (xM458) designation in R-M198(xM458), this means they didn't test for M458. Do you have a link to the source for that image and the M198, M417 info for those respective populations? Did they test those Karelians for M417 at all?

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    Quote Originally Posted by spruithean View Post
    1. For example R-Z283 is downstream of R-Z645, just like R-Z93. Haplogroups R-Z93 and R-Z283 are not direct descendants of each other, but instead share a common ancestor in R-Z645.

    2. Indeed M198 is just upstream of M417, note the (xM458) designation in R-M198(xM458), this means they didn't test for M458. Do you have a link to the source for that image and the M198, M417 info for those respective populations? Did they test those Karelians for M417 at all?
    1. Why do you think modern european barely has z93? We already know that CWC has Z645. I JUST think that south asian R1a -z93 directly originated in M513, not z645, like scythian above. I don't know, but I think CWC z645 could not be mutated into z93 in reality, even if z645 is upstream of z93. So their descendants has no z93.

    2. sorry, I have no link, I just kept the image from Carlos blog. And I don't know they tested, b/c I just quoted somebody's opinion in the other forum.

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    Quote Originally Posted by johen View Post
    1. Why do you think modern european barely has z93? We already know that CWC has Z645. I JUST think that south asian R1a -z93 directly originated in M513, not z645, like scythian above. I don't know, but I think CWC z645 could not be mutated into z93 in reality, even if z645 is upstream of z93. So their descendants has no z93.
    Z93 did not directly originate in M513, M513 is phyloequivalent to L62, L63, L120, M420, M449, M511 all of which define R1a. R-Z93 is downstream of Z645 which is downstream of M417 which is downstream of M198 to M459 to the basal position of R1a. R-Z93 cannot be Z93 if it is missing requisite mutations that precede it. Meaning if someone were R-M513+ but L62-,M449-,M420-,L120-,L63-, M511- they couldn't be Z93+, let alone R1a, they'd be some kind of R1, pre-R1a if that were the case. YFull has an extensive tree, it may take some work to find the positions you seek due to differing SNP names but it is doable and informative.

    Unfortunately I have no real strong idea as to why modern Europe has lower Z93 levels, and frankly it probably has something to do with successful lineages of other haplogroups and founder effects within Europe that caused this, with perhaps areas further east not being affected, hence the success of Z93. Not really much I can say, I'd leave that brainstorming to R1a experts.

    2. sorry, I have no link, I just kept the image from Carlos blog. And I don't know they tested, b/c I just quoted somebody's opinion in the other forum.
    No worries, was just curious. I'll dig around and see if I can find any links to the papers.

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    What is a difference between EHG and WSHG, even if WSHG has a combination of 30 EHG /50 ANE/ 20 EAST ASIAN?

    In the map of the Havard paper, Botai is with WSHG and east asian:



    but in damgaard paper, botai with EHG and east asian:



    see also another admixture model. Actually steppe_MLBA_EAST = steppe_MLBA_west + 9% WSHG, however, only EHG increased w/o East asian in the steppe MLBA East. Moreover, where did ZEVAKINSKY-LBA get that much EHG from?


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    Quote Originally Posted by johen View Post
    1. Why do you think modern european barely has z93? We already know that CWC has Z645. I JUST think that south asian R1a -z93 directly originated in M513, not z645, like scythian above. I don't know, but I think CWC z645 could not be mutated into z93 in reality, even if z645 is upstream of z93. So their descendants has no z93.
    Wherever M417 or Z645 were, there was Z283. wait and see more research;




    Sample Culture Haplogroup marker

    Kudruküla3 CCC R1a5)YP1272
    Ardu1_r CWC R1a)Z645
    Ardu1_d CWC R1a)Z645
    Ardu2 CWC R1a)Z645
    Kunila1 CWC R1a)Z645
    Kunila2 CWC R1a1)Z283

    https://www.cell.com/cms/10.1016/j.c...9b54ef69c/mmc1
    Last edited by johen; 10-10-19 at 08:22.

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    Quote Originally Posted by johen View Post


    when did scottish people get nganasan gene? Moreover, they have some west asian factor now.


    https://www.biorxiv.org/content/bior...85437.full.pdf


    https://www.researchgate.net/publica...rthwest_Europe

    Last edited by johen; 13-10-19 at 20:11.

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    Thank you for sharing, you have provided very important data, especially for some cities in China.
    Our team has also recently studied related genetic issues.
    ClipartKey_1523184.jpg
    pic @source

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