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Researching a back-mutation

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  • Researching a back-mutation

    Hello. My results came out at haplogroup HV0-T195C!, but please note the exclamation mark which evidently means a back-mutation from a more modern haplogroup. I only get three mtDNA matches and from my understanding this back-mutation can occur anywhere so those three matches don't mean a thing with respect to my ancestry. Am I thinking right so far? Because there is dearth of information about this topic on the interwebs.

    Some questions:
    How do we know T195C is a backward mutation? Couldn't it be some remnant leftover from the primordial slime? That is, a progenitor on the phylogenetic tree?

    If it really is a back-mutation, how long ago did it happen? Could I test my mother or various 1st, 2nd and 3rd cousins to isolate when this mutation occurred?

    Or maybe instead very little is known about the phenomenon and I'm on my own. I'd like to hear what anyone knows.

  • #2
    Hi Gnarlodious,

    There may be some, but I am not aware of any moderen mtDNA groups. You may find that your matches are informative. Back mutations like any other mutation could happen at any time. I have not found a good source for estimating ages of mtDNA groups.

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    • #3
      Just checked at mtCommunity. They have HV0-T195C! just under HV with HV0a. Oxford Journals has HV0a at ~14.5 ka. There are no HV0-T195C! samples at mtCommunity. This shows up when you look: 'Inferred deep coalescing haplogroup nodes are not expected to have any contemporary mitogenomes matching them.' Look like your group is old.

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      • #4
        What test to order?

        Interesting. I am going to order a test for my uncle to see if he inherited this mutation. Which mtDNA test do need to get a readout on this one mutation?

        I originally ordered the mtDNAPlus test which told me haplogroup HV, not enough information. Then I upgraded to mtHVR2toMega which discovered this mutation at HV0-T195C!. If I want the test that goes straight to this level, what do I order?

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        • #5
          Gnarlodious-- FMS aka mtFullSequence-- full mitochondrial sequence. I wish you good hunting.

          Thank you for the heads up about mtcommunity, Applegatej1. My mother's mtdna FMS just came back as mtdna haplogroup H. Even with that common a group to fish from, she has only one match at hvr1 and hvr2 level, and one match at fms level. The fms level match is three steps different from hers. Sigh.

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