35 Full-Sequence mtDNA Results and
Subclades
From Haplogroup K Project
March 26, 2007
This CHART,
as discussed below, represents the current 35 members of the mtDNA Haplogroup K
Project at FamilyTreeDNA who have received results
from full-sequence mtDNA tests. Two more tests are in progress. I last
published a similar chart when there were only eight tests available. The chart
was produced using Fluxus-Engineering Network software, using both
the Reduced Median and Median Joining algorithms. The input file was created
using Tom Glad’s mtDNAtool.
On the
chart, KROOT represents the ancestral K haplotype, as shown in this MitoSearch entry;
so all mutations on the chart occurred since the founding of K. With one
exception, I have used all of the HVR mutations on each individual’s K Project
entry. Instead of using one, two or three pairs of the position 524 insertions
I have used “524i” to simplify the chart. However, the coding-region (CR) mutations
used were not from the individual’s
full-sequence test results, since I don’t have access to all of those and some
may contain medically-relevant information. Instead, I have used the
coding-region mutations which define the various assigned subclades from Dr.
Doron Behar’s 2006 paper
which contains the current “official” K tree.
From KROOT,
the line to the right is one of the two major divisions of K,
Mutations
1189 and 10398 define the other major K division, K1. Three major subclades
diverge from branching point mv11. The first shown is K1c, defined by 498- and
two other HVR mutations. There are no examples of a plain K1c; if one exists it
would be at mv12. K1c2 is defined by 16320T and three CR mutations. Three
examples are shown. K1c1 is defined only by CR mutations; there is only one
example so far.
K1b is
defined by the CR mutation 5913. My substitute term “524i” for the
length-heteroplasmic 524 insertions makes its first appearance here. Although
the three examples here have these insertions, in reality they only appear in
about half of K1b haplotypes. K1b2, defined by one HVR and two CR mutations,
has two different haplotypes here. K1b1 is defined by three CR mutations, but
here there is only one example of its lower subclade K1b1a. That’s defined by
three more CR mutations and two HVR ones, mainly 16319A. Most of these,
including the current example, also have 16463G. No examples of K1b1b or K1b1c
have been tested in the Project.
K1a,
defined solely by HVR2 mutation 497T, is usually about 60% of K. Here it is
somewhat overrepresented at almost 69%. Branching off to the right from mv8 is the
largest group K1a1, defined by 11914. There is one example of this subclade as
well as one K1a1a, defined by one more CR mutation. The larger branch is that
of K1a1b, defined by 15924. One example of the basic subclade has four
additional HVR mutations. K1a1b1 is defined by adding 11470. Two separate
examples based on Behar’s chart tree are shown, one of which has picked up the
interesting mutation 114T. Beyond mv7 are five examples of the largest
Ashkenazi subclade K1a1b1a, which is defined by two CR mutations and 16234T.
Behar shows 114T below 16234T; it just happens that these five examples all
have it. 16223T usually occurs in a higher percentage of this subclade than the
one-of-five represented here.
Note that
the remaining examples from mv8 up have 524i. When 524i appears again, that
means either there was a back mutation, or perhaps more likely, the lines never
had 524 insertions.
K1a* is
more or less a grab-bag of K1a haplotypes which don’t have the mutations to be
in lower subclades K1a1 through K1a9. There are six of those here. Five of them
have 195C, which I have discovered includes about 19% of the Ks on MitoSearch
as opposed to the 8.5% on Behar’s tree. I think the difference is the larger
representation of British Isles and especially
Up from
mv9, defined by four CR mutations is the large subclade K1a4a1, represented by
five different haplotypes, only one of which doesn’t have the 524 insertions. This
is the largest subclade which can’t easily be predicted from HVR results, since
it has no defining HVR mutations. Two examples have 16261T; the jury is still
out on its significance.
No examples
have tested so far from subclades K1a2, K1a3, or from K1a5 to K1a8. All those
are defined only by CR mutations.
In general,
the 35 tests are a fair representation of K as shown on Behar’s tree. The
exceptions were discussed above. There are missing subclades, but consider that
Behar’s tree was based on 117 samples. The total of 37 full-sequence tests
ordered in the K Project is 9.7% of the 382 K Project members who tested at
FTDNA.
Anyone who
has tested as a K, especially if you have full-sequence results, is invited to
join the K Project by clicking on the blue Join button on your FTDNA personal
page. Additional information is available at our website.
©2007
William R. Hurst
Administrator, mtDNA Haplogroup K Project