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mtDNA Haplogroup K Project

At 500 Members

September 3, 2007

 

The mtDNA Haplogroup K Project at FamilyTreeDNA reached another milestone on September 3, 2007, with 500 members 20 months after its founding. 491 of the members are shown on the mtDNA Results tab on the Project website. Nine members on the Results tab tested their mtDNA with companies other than FTDNA. As far as I know, we continue to be the second largest mtDNA haplogroup project after the H project. 

 

205, or 41%, of our members came originally from the National Geographic Society's Genographic Project. At least 332 of the FTDNA members, or 66%, have uploaded their data to MitoSearch; others may have uploaded their results “by hand” and wouldn’t be counted. 57 members have received coding-region results and official subclade designations from full-sequence tests. We are waiting for the results from 49 more of these FGS or Mega tests. So 106 or 21.6% of the FTDNA members have ordered FGS tests. Eight of these have been uploaded to the federal GenBank database so far, with other submissions in progress.

 

348 members, or 69.6%, have HVR1 plus HVR2, or high-resolution, results. (That doesn’t count four of the non-FTDNA members who have incomplete HVR2 results.) We have 56 sets of high-resolution matches, including 210 members, or 60.3% of those with high-resolution results. That's up from 58.8% at 400 members. With the 138 un-matched high-res "singletons" added to the 56 haplotypes in matches, there are 194 different high-res haplotypes, for what I've been calling a "diversity percentage" of 55.7%. That percentage continues to go down as new members are more likely to find matches.

 

The haplotype with the largest number of matches is now a branch of the Ashkenazi K1a1b1a subclade, with 15 members. It has the six basic K mutations - 16224C, 16311C, 16519C, 73G, 263G and 315.1C - plus 497T, the defining mutation for K1a, plus the defining HVR mutation for K1a1b1a, 16234T, plus 114T.

 

The next largest haplotype, with 14 members, has the basic six mutations, plus 497T and 195C; the latter mutation defines a large group under K1a. Added to that are 16048A, 16291T and two pairs of position 524 insertions to form the modal haplotype of a subclade I’ve provisionally called K1a10. In fact, I have recently suggested this branch be called K1a10a, with a branch with the added 16051G mutation called K1a10a1, and a branch which substitutes 16047A for the 160291T called K1a10b. We have only recently received single FGS orders for the latter two branches, so it may be awhile until it is determined if there are perhaps coding-region mutations involved in their definitions. Note that, following the convention used in Dr. Doron Behar’s K tree, the number of 524 insertions is not used in assigning the branch designations.

 

The third largest haplotype, with 13 members, has the basic six mutations plus 146C, 152C, 498- and 16320T - the modal K1c2. The fourth largest, with 12 members, has the basic six plus only 146C and 152C – the modal K2a.

 

The fifth largest with 11 members is K1a9, another Ashkenazi subclade; this adds 195C, 497T, 16093C and the key mutation 16524G. Note that this one is similar to its “sister” subclade K1a10 subclade found most commonly in those with Irish ancestry.

 

Remember that the subclades are usually officially determined by coding-region mutations outside the HVR regions. I only make predictions based on HVR results.

 

Just looking at the 57 members with full-sequence results, we now have 21 different subclades represented, including three I’ve defined provisionally. The two largest subclades are now K2a and K1a4a1 with eight members each. In the latter one, which may only be determined by coding-region mutations, each person has a different haplotype. In K2a three people exactly match the modal haplotype. K1a1b1a has dropped to a close third with six members. Since my last report we have picked up our first K1, K1a3a, K1a4 and K2b members. There are still no examples of most of the lower K1a subclades: K1a2, K1a5, K1a6, K1a7 or K1a8. Other than those, most of the K subclades are now represented by at least one full-sequence test.

 

I have posted a new chart which contains the basic data for just the 348 high-resolution members from the project website, again sorted first by predicted subclade, then by HVR2 and HVR1 mutations. The Haplo column contains either K or the subclades assigned by FTDNA from full-sequence tests. My subclade predictions are in the Subclade column. Some uncertain predictions are followed by a question mark. The subclades for the first three entries are not predicted. Subclade predictions deeper than the official subclade designations under the Haplo column may or may not appear as such in a future edition of the “official” K tree.

 

The HVR1 and HVR2 mutation lists highlighted in yellow are those with the 498- and 16320T mutations, almost always suggesting K1c1 or K1c2 subclades. Those in bright green are generally those in Dr. Doron Behar's Ashkenazi subclades, K1a1b1a, K1a9 and K2a2a. About 56 members, or 16.1% of the 348 high-resolution entries, are in one of the Ashkenazi subclades. That percentage is exactly the same as in the 400-member report. I have again used turquoise to mark the 524 series of HVR2 insertions. Of the 106, or 30.1%, with the 524's, six members have six of those insertions each, while one has eight. Orange is used for the provisional K1a10. Blue is used for haplotypes with 16319A and usually 16463G, which are likely to be in K1b1a. New colors this time are tan, for the provisional K1a11 subclade with HVR2 mutation 16T; grey, for all occurrences of 16261T and 16245T, which may or may not turn out to be indicators of K1a4a1; and light green, for mutations 16092C, 16223T and 114T, which appear to indicate K1a1 and its lower subclades.

 

The News tab on the K Project website should be consulted for recent developments concerning K. Those tested as being in haplogroup K may join the project by clicking the blue Join button on their FTDNA personal page, then proceeding through four pages before clicking on yet another Join button.

 

© 2007 William R. Hurst

Administrator, mtDNA Haplogroup K Project