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unusual HVR1 sequence

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  • unusual HVR1 sequence

    I have an HVR1 sequence that has both 129A and 465T. I have seen both of these mutations in other people, but never together, other than my own. I do have some matches in HVR2, but no one at all shares my HVR1. Does anyone know what this means? Is it rare, or are there just too few people in the database as yet?

    U5, formerly U5b: 129A, 189C, 270T, 465T, 519C
    073G, 150T, 152C, 263G, 315.1C, 522-, 523-

  • #2
    It is very common not to have matches in the databases. Outside of H (where there are lots of similar people) and of certain K,J,T motifs, this is the norm. 16129 is a frequent mutation that pops up in several unrelated haplogroups; I think 16465 is less common.

    As you point out, with much larger datasets, matches will probably appear; still, given that U5 is a European haplogroup, this means that your sequence is relatively rare.

    cacio

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    • #3
      indeed quite a rare U5b type. There are some partial matches in the published literature based on the presence of 16465T which I do not assume to be unique in the U5b family.

      First, check this variant which seems to be in the extended U5b3 branch:

      gi|194739404|gb|EU926618.1| Homo sapiens haplogroup U5b mitochondrion, complete genome, FTDNA commercial

      73-150-263-309.1C-315.1C-524.1C-524.2A-750-1438-2706-3107d-3197-4769-7028-7226-7768-8860-9477-10978-11467-11719-12308-12372-13617-14182-14766-14803-15326-16192-16235-16270-16304-16465

      and another type similar to the latter one within the HVS1:

      Helgason 2003, Icelanders, 1 of 552
      192-235-270-304-465
      73-150-263-315.1C

      Your type is too distant from these 2 although shows the same change at 16465. So 16465 is not a reliable indicator unless the coincidense is more obvious, up to the exact matching.


      Now I list what I actually consider matches:

      Sykes 2006, London, 1 of 163
      189-270-465

      Yao 2004, Mongols, 3 of 49
      129-189-270-465 (sequenced from 16000 to 16497th site, so still may have 16519 as you do)

      Irwin 2007, Hungarians Budapest, 1 of 211
      093-189-270-465
      73-150-152-263-315.1C-514d-515d

      Irwin 2007, Hungarians Budapest, 1 of 211
      189-270-465
      73-150-152-263-309.1C-315.1C-514d-515d

      Irwin 2007, Greece Northern, 1 of 319
      189-193.1C-193.2C-270-465
      73-150-152-260-263-315.1C-514d-515d

      Note that 522-, 523- is the same as 514-, 515- just with another alignment.

      3 samples from Mongolia are the closest matches You must be related to some ancient populations from which Mongols took their wives. I mean those of Western stock because 90% of Mongolian mtdnas are Asian.


      Valery
      Last edited by vraatyah; 15 October 2008, 08:33 AM.

      Comment


      • #4
        thanks

        Thanks Valery, what a revelation! This is my first break through since I received my DNA results from National Geographic nearly 2 years ago.
        I would say my maternal ancestors have taken quite a trip from Europe to North America via Mongolia and the British Isles! It's just amazing to think what those journeys must have been like.
        As you and Cacio pointed out 465 is fairly rare in Europeans, but not so unique among U5b's. I am assuming then that the 3 Mongol matches are also U5b.

        I have also been in the dark about where exactly my earliest maternal ancestor, Margaret Brown came from in Britain. She was born in Pennsylvania in 1799, and mother always thought the family was Irish, but this was not conclusive either. At least now I have your information. Susan

        Comment


        • #5
          Interesting

          This is Interesting that your U5 matches closest to Mongolia. I am Hg B2. On some of my X chomosome test I have some rare markers that match people who have MT-DNA U5. I wonder if it is possible that some U5 could be Mongolian/Native American. Like X MT-DNA and Q Y-DNA. Some X and Q are European and some Native american depending on certain mutations.

          Comment


          • #6
            an old piie chart

            I don't know where I downloaded a pie chart from, but it shows not only a slice/sliver of mtHG "U" for Mongolia, but also mtHG "H." The neighboring Altai region also shows both western mtHGs.

            Comment


            • #7
              speculation

              It looks like the mtHaplogroup "u" found in Mongolia/Altai is narrowed down to "U5." And it looks like both "U" & "H" got there from Proto-Iranian stock in the Volga-Ural region. This would have happened after the domestication of the horse (see the book "The Horse, the Wheel, and Language.").

              Comment


              • #8
                Originally posted by PDHOTLEN
                It looks like the mtHaplogroup "u" found in Mongolia/Altai is narrowed down to "U5." And it looks like both "U" & "H" got there from Proto-Iranian stock in the Volga-Ural region. This would have happened after the domestication of the horse (see the book "The Horse, the Wheel, and Language.").
                If that is the case than I would say her ancestor would not be American Indian but I would still think her DNA might be rare for being in PA in 1799???

                Comment


                • #9
                  Originally posted by PDHOTLEN
                  It looks like the mtHaplogroup "u" found in Mongolia/Altai is narrowed down to "U5." And it looks like both "U" & "H" got there from Proto-Iranian stock in the Volga-Ural region. This would have happened after the domestication of the horse (see the book "The Horse, the Wheel, and Language.").
                  Read these 2 post's below. You might find them Interesting.

                  http://genforum.genealogy.com/melung...ges/26462.html

                  http://genforum.genealogy.com/melung...ges/26461.html

                  Comment


                  • #10
                    Yaffa, probably you asked too deep question for this discussion. As to Susan's results, I suspect that the English variety (where 2 types are found, one by Sykes and one is announced in this topic) is greater than that in Mongolians, so actually there is no direct link.

                    Comment


                    • #11
                      Originally posted by Yaffa

                      http://genforum.genealogy.com/melung...ges/26463.html

                      and this just posted goes with the other 2 above. Interesting that the surname posted is Bolton and yours is Holton

                      Comment


                      • #12
                        Originally posted by vraatyah
                        Yaffa, probably you asked too deep question for this discussion. As to Susan's results, I suspect that the English variety (where 2 types are found, one by Sykes and one is announced in this topic) is greater than that in Mongolians, so actually there is no direct link.
                        Too deep! Hmmm. I think Mr Holton had a previous discussion ongoing in the success forum of U5 comming up in some Native American's and people were studying this issue. Susan stated she couldn't retrace her ancestor past 1799 so I just a tought I might throw in other possibilites.

                        Comment


                        • #13
                          Something to ponder

                          I am beginning to think that the possible Mongolian link to my ancestry may be a red herring. To return back to Europe thousands of years after having been taken away to Mongolia seems like a long shot---really.

                          I am wondering now if it's possible that "I" (figuratively) could have acquired the 129 mutation after living for sometime in Europe or Britain as the case may be. This is why, and my reasoning may be completely off base: First of all, we are completely Caucasian, although thousands of generations could have removed any trace of another race. Second, there is a possibility that my "Brown" maternal ancestor could have been Scots-Irish or Ulster Scots, as there was a great influx of immigrants to PA from Northern Ireland in the 1700's. Thirdly, the only near match to mine that I was able to find, is a woman from Northern England who was of Scottish heritage. The only difference between our HVR1 sequence is that she lacks the 129 mutation. The HVR2 sequence is the same.

                          Susan

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                          • #14
                            U5 is too old

                            The trouble seems to be that U5 is too old - tens of thousands of years old. So who knows when and where a particular haplotype has been before coming to the USA?

                            I'm still not sure about my own U5b2. It belongs to a sub-branch that includes Sardinian examples. But my family hhistory does not include a Mediterranean source within recent centuries.

                            U5b2 & R1a1

                            Comment


                            • #15
                              I guess we'll never know all the answers, but it sure is a lot of fun trying. Having my full sequence done would probably help.
                              At least you know where you hailed from---U5b2 Sardinia sounds just great. I think I read that this subclade tends to have longevity.



                              Susan1
                              U5b
                              R1a1

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