мтДНК: Гаплогруппа K

[татиа]

Most of you received the Facts and Genes newsletter from FTDNA a couple of days ago mentioning the numerous changes being made to mtDNA results reporting. Let me go over the changes in detail.

On your FTDNA personal page the most important change on mtDNA Results tab is that the old big CRS list has been changed to two or three columns showing how your HVR1, HVR2, and CR (if you have taken the FGS) results compare to the CRS. Above that there is a link to “mtDNA Haplogroup Mutations.” Go there and click on U and you will see the defining mutations for all the subclades of K. Another link is to “Full Genome Sequence Library.” I was happy to see my Journal of Genetic Genealogy article included.
On your list of mutations a few of you will see heteroplasmies now listed. A heteroplasmy is when you have some copies of the CRS variant and some of the mutated variant. Older results may show those with an “N” code, such as 114N. Newer results will show 114Y, which means your maternal line is in a transition phase between the CRS variant “C” and the mutated variant “T.” In these cases, there is no difference between “N” and “Y.” Heteroplasmies are explained in more detail in the “mtDNA Results Tutorial” which has a link on the Results tab or from the FAQ link at the top of most FTDNA pages.

For those of you who had 524 insertions, those have been converted to 523 insertions. You may well have more matches, as should those who already were shown with 523 insertions.

Heteroplasmies and other changes were supposed to be fixed automatically for those who uploaded from their personal pages, but not for those who uploaded by hand. I haven’t checked this out.

A very few of you may have just found that you have been reclassified from K to U or R. Don’t panic; that’s usually because you have had a back mutation in a defining mutation. Most of those have been fixed before and should soon be fixed again.

Those of you in the K1a10 and K1a11 Subgroups who have taken the FGS test will now see that you now have those official designations instead of just being in K1a.

On the K Project website you will notice that the HVR1 mutations are shown as, for example, 16224C instead of just 224C. Be sure to scroll right to see your HVR2. Your heteroplasmies, if any, are also shown here. If you looked earlier and noticed the Most Distant Ancestor column was missing; that’s been fixed.

Bill Hurst
Administrator, mtDNA Haplogroup K Project

[татиа]

You may have heard that a few days ago the full mtDNA sequence for the 5300 year old
Otzi the Iceman from the Austrian Alps was published on GenBank. The accession
number for him is EU810403. It was previously known that he was in subclade K1, but
not in one of its three lower subclades. He had one fairly common extra HVR1
mutation, 16362C, plus two rare extra coding-region mutations, 3513T and 8137T. He
also had the very common 309.1C insertion and three pairs of position 524
insertions. He, of course, had the two defining mutations for K1, 1189C and 10398G,
plus the 6 HVR and 20 coding-region mutations shared by virtually every K. I have
created a MitoSearch entry for Otzi: 4Q6JA.

The authors, Ermini et al., compared the Otzi sequence to 115 other K sequences on
GenBank. Thirty of those are direct submissions by FTDNA customers, including 29
from our K Project members. Since there are now 62 GenBank K submissions, the 30
count reflects the cutoff date for the research of several months ago. The sequence
receiving the most discussion is from one of our members in K1. If you look at the
chart under “mtDNA results” on our website, you will see we now have two members
confirmed in the K1 subclade. Otzi and our two in K1 share the 16362C mutation, but
a recurrent HVR mutation is almost never used as a defining mutation for a subclade.


Much has been made about Otzi being in K1, having only the two rare coding-region
mutations, and not having any known living matches. One theory is that he was a
member of a now-extinct fourth subclade of K1; K1d, I assume, although the
scientists have used K1? (? for Otzi). Normal practice is to not create a subclade
for a singleton sequence; otherwise maybe hundreds of us would have our own private
subclade designations. Many of us with FGS results have two or more private
coding-region mutations. And many of us have no matches.

Another theory is that Otzi was a K1a whose line had a back mutation on the defining
mutation for K1a, 497T. With his mutation list, he could only be a K1a in no lower
subclade. We have five such K1a-only members in the Project; there are only two
others on GenBank. Two of those have the three pairs of 524 insertions, as does
Otzi. But I’ve seen about a thousand sets of high-resolution results and I’ve
never seen one who looked like a K1a missing 497T. That mutation may be unique to
K1a, and it appears to be extremely stable. So I’m not prepared to accept that
theory. If Otzi’s sequence had showed up in one of our members, I would not
thought it anymore unusual than the two K1’s we have.

The paper with the Otzi sequence is in Cell Biology at
http://www.cell.com/current-biology/abstract/S0960-9822(08)01254-2 That’s a
subscription publication, but the Supplemental Data, listed on the right side, may
be downloaded for free. The last page lists the 30 FTDNA K GenBank sequences.  You
might read the Science News article at
http://www.sciencenews.org/view/generic/id/38191/title/A_mysterious_genetic_past_for_the_Iceman
 Several other articles may be found by using Google News. One article mentions a
different Otzi paper:
http://www.theaustralian.news.com.au/story/0,25197,24579319-30417,00.html I
haven’t seen anything else on that paper.

In other news, a new comprehensive mtDNA tree is available at
http://www.phylotree.org/  Some FTDNA GenBank submissions were used, but not for K
so far. The K portion is mainly the current Behar tree with a few new subclade
labels added. Don’t get attached to those new labels, as they might change when a
major revision of the K tree is published based on new GenBank sequences and the
FTDNA FGS results for which Agreements have been returned. (Yes, that’s another
hint that if you haven’t replied to your FGS results notification with Agree,
please do so.)

K Project member Jim Honeychuck has created two Google maps for the K1a10 subclade.
See
http://maps.google.co.uk/maps/ms?ie=UTF8&hl=en&msa=0&msid=101077415341135244622.000452702192ba5efd94e&ll=56.704506,5.976563&spn=27.028481,57.392578&z=4
 and
http://maps.google.com/maps/ms?hl=en&ie=UTF8&msa=0&msid=101077415341135244622.00045846fece1231b7078&ll=48.69096,3.515625&spn=55.952597,157.5&z=3


Bill Hurst
Administrator, mtDNA Haplogroup K Project

[татиа]

А кто у нас еще K1a*, кроме моей бабушки по отцу?

Моя - K1a4a1, а что у вас?

[I2a1a]

"Митопортреты" или графические реконструкции "матриархов" групп U/K.
http://www.zaender.com/ur/magenta/pdf/HG-UK.pdf

[татиа]

Вот что я получила по рассылке от админа проекта мито K на FTDNA.
Все очень бравурно, вот только обещанный FGS в третий раз не прислали и снова сменили срок... 

The mtDNA Haplogroup K Project is close to celebrating three major milestones. First, on January 9, 2010, our Project was four years old. Second, we have close to 1500 members, keeping us the second largest mtDNA haplogroup project at Family Tree DNA. Third, we are close to having 500 members to have ordered the full-sequence mtDNA test (FGS or Mega). Let’s look at these statistics and others in more detail.

Our Project was founded on January 9, 2006, soon after FTDNA allowed haplogroup and geographical projects. Now almost every mtDNA haplogroup has its own project.

As of January 9, we had 1494 members. That’s slightly more than one new member on average every day of our existence. 1458 of the members tested with FTDNA; 36 with other companies. 549 members began their testing with the Genographic Project, 33 with FTDNA’s European subsidiary iGENEA, and one with FTDNA affiliate AfricanDNA.

At present, two members’ results are not showing up on our website because they have managed to uncheck certain boxes on their personal pages; they have been notified. Two members are listed as being in haplogroup R and one in haplogroup U. Those issues are caused by back mutations in defining mutations and the results will eventually be corrected back to K. Also, the one K2 is really a K2a. Two members are shown in the U8b’K Subgroup. One has been designated as such by FTDNA after originally being a K; the other is officially listed as being a K pending FGS results. Both probably will be in U8b eventually, but that will require a redrawing of the U8 tree. More on this below.

We have 371 members who have received full-sequence (FGS or Mega) results plus 123 FGS orders in progress for a total of 494. 396 of the FGS members reside in the USA, but showing the international character of our membership, the other 98 reside in 25 other countries.

Of the 438 FGS results from FTDNA submitted to the federal GenBank database as of January 11, 2010, eighty were from haplogroup K customers and 77 of those are from the K Project. Seven of 14 new submissions just published in 2010 are in K; all are from the K Project. The complete sequences may be found on Ron Scott’s website. Many of the entries on GenBank have been used by the PhyloTree and in other scientific papers.

Although the promised revision of the K phylogenetic tree has been delayed, research is continuing. New FGS results, mainly from the October discount period, will certainly add several new and deeper subclades to the K tree.

The Google map on our Project website now shows maternal origin location pins for 693 members. By selecting a Subgroup from the drop-down menu, a very good indication of the maternal origin of any particular subclade may be obtained.

On July 15, 2009, I started a Haplogroup U8 Project, which now has 28 members. As of now, FTDNA doesn’t designate anyone as a U8 until they have FGS results. Haplogroup K is descended from U8 and is a sister clade of U8b. The difficulty in accurately placing some sequences on the boundary between U8 and K is why there are members of both projects designated as U8b’K. This is an interesting area of research.

K Project members can benefit themselves and the Project by performing one or more of the following items: Upgrade results with the mtDNARefine or FGS (Mega) tests. Add maternal origin pin to Google map. Upload results to MitoSearch. Submit FGS results to GenBank. Reply to FGS notification with “Agree” so results can be used to revise the K tree or possibly other scientific projects. Make sure all K Project boxes are checked on your personal page under User Preferences so HVR results show up on the Project website and the Administrator may explain your FGS results when they arrive. Contact your matches and recruit them to the K Project.

Thanks for your outstanding performance and cooperation these past four years. As always, let me know if you have any questions.

William R. Hurst
Administrator, mtDNA Haplogroup K Project

[татиа]

Получила от FtDNA результаты FGS по материнской линии моего отца.
Теперь моя бабушка совершенно официально K1a4a1.

А неофициально: K1a4a1a

[татиа]

K1a4a1 от FtDNA:

[татиа]

Некоторые подробности:

You are our 47th official K1a4a1. Let me explain your new coding-region mutations from the top.
The 1189C and 10398G mutations get you to K1.
K1a is defined by 497T.
K1a4 is defined by 11485C, K1a4a by 6260A, and K1a4a1 by 11840T and 13740C.
4295G and 15884A define the largest branch of the subclade which has been labeled as K1a4a1a on the unofficial PhyloTree at http://www.phylotree.org/tree/subtree_U.htm
FTDNA has not yet adopted this designation.
Your 9377G defines an even deeper branch which will probably be give a separate designation on a future revision of the K tree. At least five other K Project members have that mutation, so it is not close to be a private mutation.
On Dr. Behar's tree (see below), the anonymous H80 sequence from a scientific paper by Herrnstadt has it. The only differences you have with some of the other FTDNA members is that you don't have any insertions at position 523 and you have four rather than two of the 573 insertions. Those are minor differences.
I note that the odd 574C mutation you had previosly has disappeared. That was probably a result of the system not being used to four 573 insertions. Your other six HVR and 20 coding-region mutations are those which get all of us from the Cambridge Reference Sequence to K.

William R. Hurst

[napobo3]

Получила от FtDNA результаты FGS по материнской линии моего отца.
Теперь моя бабушка совершенно официально K1a4a1.

Поздравляю!
ОБЯЗАТЕЛЬНО пошлите свои данные в GenBank.
Технические подробности - в личке.

[татиа]

napobo3, угу.
Буду ждать подробностей.
Спасибо.

[Yulita]

А кто у нас еще K1a*, кроме моей бабушки по отцу?

Моя - K1a4a1, а что у вас?

Танюша, моя бабушка тоже К1а*, только, в отличии от твоей,  K1a1b1a

[Alesh]

Здорово!
 

[татиа]

Танюша, моя бабушка тоже К1а*

Ну, слава богу. А то здесь как-то было одиноко .

[татиа]

Это мои. Сейчас твоих пошукаю.

[татиа]

А вот и твои (те, кто c FGS и в К* группе).