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mtDNA H*

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  • mtDNA H*

    My HRVI results came back with mutations at 16192T and 16519C.

    I was surprised that my follow-up test result came back as H*. Is anyone else on this forum H* and have you learned anything interesting about this result?

    My maternal grandmother is from Spain and is perhaps of Basque origin.

    Last edited by Johnserrat; 14 April 2005, 11:49 AM. Reason: spelling

  • #2
    Hi! I almost didn't read your post since it said H* which I didn't think I'd have a connection with.

    I have both of those mutations 192 (not common) and 529 (very common)- BUT I have in addition to those I have 5 other mutations. I am classified as T5 because 3 of my other mutations fit the T5 classification.

    But it's notable that we match 192 for a few reasons. My family should have been in Spain or Portugal from about 2500 years ago up until 500 years ago (since I'm Sephardic). I've posted my mt dna sequnce in other messages, and one of the researchers checked his database of over 35,000 samples. The only close match was to 1 person from central portugal. He or she and I shared 5 out of 6 mutations (he/she wsn't tested for 519), including 192.
    If you want the reference for that article on mt dna patterns in portugal let me know; the samples are listed in the appendix. I think he/she was the only one with 192 mutations, but i'd have to go back and check.

    If you hadn't said your family was from Spain, I would have most likely thought it was just coincidence - that 192 mutated seperately on the H line (yours) and the T line (mine). Could still be coincidence, but it sure makes one wonder.

    After getting your message, I looked up all the H*s on the mitodatabase which presumably you did also. As you know yours is the only 192. There were too many H's (300+) to check, but I did do a search for just 192 and here's what it came up with:

    DHZD6 H 192T 0 Not Tested
    CUC7C H 192T,304C +1 146C,263G,315.1C,456T
    W3WYP H* 192T,519C +1 Not Tested
    X9KZ7 U5b 192T,270T +1 Not Tested
    AHZGR H 192T,304C +1 Not Tested
    MDQ3T U5b 192T,270T +1 Not Tested

    I looked up the origins of each of these samples- yours from spain of course, one other (an H) from Germany, and then the others are unkowns or in america, though not clear how far back.

    The above are for those that have only 192 or 192 and 1 other mutation.

    If you get control region 2 tested, let me know the results.

    have you found anything out about 192? I must have looked it up at some point, but I don't remember much.

    If the Iberrian penisula connection is not a coincidence (yours, mine, and the portugal sample) I don't know how they would be put together in a single sensible mutation chain of events. doesn't seem to make sense. If 192 occurred late, then you would have the other mutations that I do. If 192 occurred early, then more T's would have 192, which almost none do.
    Any thoughts?


    • #3

      Hi Penguin,

      It's kind of funny that my husband is T5 like you, but we share the same unusual mutation.

      It is of course possible that my maternal ancestor was jewish as well and forced to convert after 1492. However, based on oral family history, I am told that my grandmother's family was Basque. I have only just started doing some genealogical research on my family history so I am taking a wait-and-see approach.

      I really don't know anything about the 192 mutation, but was aware that the 519 mutation was common. I don't really understand how people from different haplogroups can share the same unusual mutations. Does that mean that I am more closely related to you or to other H*s, whomever they might be?



      • #4

        I have now googled the 16192T mutation and have learned some interesting things.

        The 16192T mutation is shown by Helgason et al, 2001, Am. J. Hum. Genet. 68:723-737 as defining U5, and is thought to be an unstable nucleotide that often mutates back to "C", especially in the case of U5b and U5a1a.

        This particular mutation also appears to define the sequence motif for the A3 subhaplogroup of the North Eastern Siberian Inuit around the Northern Pacific Rim.

        I have also learned that if a person has the 16189C mutation AND the 16192T mutation, that there is an extremely high rate of reversion (hypermutation) at 16192.

        Further, Cheddar Man appears to have shared this mutation with us!



        • #5
          Interesting stuff. If 192 mutates frequently (or maybe just mutates "back" frequently?) that would suggest it has maybe sparodic meaningless appearances everywhere (except perhaps in haplogoroup U where its more systematic and means something), or in other words independent appearances in lines that have nothing to do with one another. I would be satisfied with that explanation - except for this blasted spain/portugal connection between us and the portugal sample as well. If above explanation is right, it would mean the spain/portugal thing is just coicidence. Possible I guess. So far, that seems the best explanation even if it is unsatisfying...

          In answer to your question, I'm not completely sure, but I do not think it means there is more connection to me than to other H's. It seems impossible to think of a single lineage that we share that's after the 50,000+ years where H and T split off. Given what you said about 192 reverting back, here's the best I can come up with so far, that I think is logically consistent (but i have to check some facts to make sure):

          The ancestor of Ursula, Tara and Helena had 192T (is this true?, presumably we can find that out) which would have had to have been more than 45,000 years ago. 192 mutated back to A in most of the lines of H and T (but not all) and not in U. In that view, if a person has 192T, it was there very early, and received from a common ancestor of ursula, tara, and helena. (I thus far cannot put together an alternative sensible time line if 192 happened instead in Spain relevatively recently. that is, you and I do not appear to have a common ancestor in spain under the current assumptions.)

          now that you mention it, I seem to remember that cheddar man was a decendent of Ursula- have to look all that up again.

          Can you remind me what your husbands sequence is? Is he one of the 5 T5's that appear in mitochondrial dna database?

          I seem to recall reading a fair amount about basque region and mitodna which i'll look up again- it was either very distinctive or very undistincitve, and i can't remember which...


          • #6
            mtDNA 16192T

            I do not believe that the ancestor of Ursula, Tara and Helen had the 192 mutation. Based on what I read today, the 192 mutation must have arisen afterwards because otherwise it would not be able to define the subgroups of U5 and A3.

            My husband is the T5 from Wieringen in The Netherlands.



            • #7
              Originally posted by Johnserrat
              I do not believe that the ancestor of Ursula, Tara and Helen had the 192 mutation. Based on what I read today, the 192 mutation must have arisen afterwards because otherwise it would not be able to define the subgroups of U5 and A3.

              My husband is the T5 from Wieringen in The Netherlands.

              it could still define the subgroups if it mutated back in every group except those subgroups.