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Mtdna: I5a1

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  • Mtdna: I5a1

    Does anyone know anything about this Haplogroup? I can't really find any info on it. My Mtdna is I, However I have never done anything past HVR1 because I have zero mtdna matches. I ran my fasta file in a utility and I5a1 is much more likely my mtdna haplogroup. I guess I'd have to do fullseq to find out for sure.

  • #2
    My sister has a Relative Finder cousin at 23andMe whose maternal haplogroup is I5a1. This cousin's maternal side is from Abruzzo, like yours, and Nova Scotia. I don't know if her strict maternal line is from Abruzzo or Nova Scotia.


    • #3
      mtdna I is just so rare. Their really isn't much information available for the haplogroup or it's sub-clades. It's pretty frustrating.


      • #4
        I5a1 is listed as being a Sephardic subclade.


        • #5

          In my opinion, not having exact matches is a compelling reason to take the mtFull-Sequence test - that is, if you have an interest in your subclade and the history/origins of your mtDNA line. With your HVR1 results, unless there is a heteroplasmy, the lack of matches is an indication that you have a rare sequence and might belong to a 'new' subclade that has not yet been identified. Without full-sequence results, there is no way to ever know where you fit on the mtDNA tree.

          Here are some things to consider regarding your predicted I5a1 label:

          First, as background (which you may already know), the mtDNA sequence has two named hypervariable regions: HVR1 (from positions 16001 to ~16569), and HVR2 (from positions 1 to 574). The majority of the sequence is contained in the slower-mutating 'Coding Region (from positions 575 to 16000), which can only be revealed by full-sequence testing.

          I5 is defined by A14233G, which is a coding region mutation. I5a (branching off from I5) is defined by the added mutations of T5074C (coding region) and C16148T (HVR1). I5a1 (branching off from I5a) has the added mutations of 8281-8289d and A12961G (all coding region). Out of these mutations, the only one in the HVR1 section is C16148T, which is part of the motif for I5a. This particular mutation, C16148T, being in the hypervariable region, sometimes appears in other I subclades, including I1a1e and I2c. It is also found in a number of novel I sequences with incomplete testing and unknown subclades. Therefore, with only HVR1 testing, the finding of C16148T is suggestive, but not conclusive, for belonging to I5a, and cannot predict I5a1 at all, because the mutations for I5a1 (branching off from I5a) are all in the untested coding region.

          Therefore, to discover or promote the identification of your subclade now, and to get the most meaning from the matches that come along in the future, I would recommend the mtFull-Sequence test.

          Best wishes!

          Martha Hicks