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THREE MTDNA HAPLOGROUP K PHYLOGENETIC CHARTS

 

I have created three phylogenetic charts from the high-resolution, or HVR1 plus HVR2, entries on MitoSearch or the Haplogroup K Project website. Each chart shows one small part of the K haplogroup, generally one of the subclades which are defined by control-region mutations. I have followed the nomenclature used in Dr. Doron Behar's Ashkenazi mtDNA paper at http://www.familytreedna.com/pdf/43026_doron.pdf That is the standard being used by FTDNA in assigning subclades to those taking full-sequence mtDNA tests. At present, the K project has 100 persons with high-resolution test results. MitoSearch has more than 200 high-res K's. These numbers are in the same range or better than the sample sizes of many scientific studies. Neither population used has coding-region mutations, which are required to fully designate subclades; but that should not matter with the specific subclades being charted.

 

Instead of using a specialized software such as Fluxus or Pajek, these charts were drawn "by hand" in Microsoft PowerPoint. Generally, the charts read left-to-right. The white circles represent beginning or branching points with no specific examples. The size of the circles is somewhat proportional to the number of examples. The three-letter country codes should mostly be obvious. The countries of origin were taken from MitoSearch, the K website, or the K Group Administrator's Page. Mutations listed are from the examples, except that back mutations are my interpretations. My thanks to Ann Turner for valuable comments on a couple of the charts.

 

Chart 1 - HVR2 Position 524 Insertions

 

This chart is based on the 20 haplotypes in the K project with insertions at HVR2 position 524. The 524 insertions always appear in pairs and thus, in my opinion, each pair should be considered one mutation when calculating genetic distances. Recurrent mutations are those which appear in more than one place in the mtDNA tree, even within a haplogroup. As a result, most scientific studies, including Behar's, ignore recurrent mutations. Obviously, the 524's appear in numerous places in K. However, recurrent does not mean random. I've pointed out before that I've never seen these in the K1c/K1c2 or "Ashkenazi" subclades (see charts 2 and 3). A glance at this chart shows that half the examples list one of the British Isles countries as their maternal ancestors' origins. In addition, all five of the ones listing USA were from a southeastern state - those usually with English-Scots-Irish settlers. The one from Italy actually listed Sicily. There is another example on MitoSearch from Sicily. My guess: Normans. Note that the Czech example is remote from all the other entries.

 

The largest of four clusters on this chart is the top one, part of the top-level K1a subclade with insertions starting with 524.1C. This one looks very British. The next one down starts with 524.1A. As I have mentioned before, there is a theory that the insertion sequences beginning with .1C and .1A are actually the same thing counted two different ways. The next cluster lacks the 497T mutation, which defines K1a, There are a couple of possible subclades for those, but those would have to be determined by tests of coding-region mutations. The last "cluster" is composed of only one entry listing the Czech Republic.

 

Note the great diversity on this chart; only three haplotypes have two examples. Also note that there are two entries with six insertions. I have only seen one more of those on the haplogroup I website. Don't bother looking for these on MitoSearch; it currently only accepts four insertions per position.

 

Perhaps the significance of this chart is that those K's with these insertions who are brickwalled in the USA or list Unknown should probably look to the British Isles for their maternal line.

 

Chart 2 - Subclades K1c and K1c2

 

I will confess a special interest in this chart since I'm on it. Subclade K1c is defined by Behar by the 146C, 152C and 498- (deletion) mutations. K1c2 adds 16320T. (Since K1c1 is defined by coding-region mutations, some of the K1cís may actual belong to that lower subclade.) The chart is based on 35 entries from MitoSearch, divided as equally as possible between K1c and K1c2. Due to the method I used to extract the entries, I don't guarantee that I picked up them all. I did check against my K500 survey chart and the K project website. I used to refer to these as Scottish haplotypes, then British, but now they seem to be scattered around Western Europe. I will point out that the USA entries are mostly from the southeast or Pennsylvania, also largely settled from the British Isles. The two large circles demonstrate that there are relatively high numbers of "perfect" examples of the two subclades, with "star" patterns leading off from each.

 

Chart 3 - Subclade K1a1b1a

 

Dr. Behar defines K1a1b1a by 16234T. Below that he has 114T, then 16223T. Of the 15 examples in the K project, all but three have 114T. A third of them have 16223T. Since this is one of Behar's "Ashkenazi" subclades, it is not surprising that half list eastern European countries. Two of those without 114T list Ireland and Ohio. The third one has both 16223T and 16234T, so itís lack of 114T is probably due to a back mutation. Two project members have said that they have no known Ashkenazi ancestors.

 

William R. Hurst