Haplogroup N, HVR1 16292T, 16519C?

[Marcia S.]

My DNA shows I'm Haplogroup N, with CRS 16292T and 16519C listed, and I'm really confused and hope someone can explain this to me. I apologize if I'm asking a stupid question, but I've seen 16519C listed with other haplogroups, in fact, it was listed on the Famous DNA site for Marie Antoinette, however she was listed with haplogroup H. I realize haplogroup N has to be an offshoot of something else, and is that where the subclave thing comes in?
Is N an offshoot from H? I know I'm in way over my head with trying to understand DNA, and in reading over these boards you people seem to know the right answers, so a big thank you for that! So this 16519C, does this mean I share a common ancestor somewhere along the line with the French Queen, or because the haplogroups are different it means nothing? Also since I had two numbers listed 16292T and 16519C, I assume this means I have two mutations? And are these the numbers that are matched to me?
Thanks in advance for any or all answers you can give me.
Marcia S.

[cacio]

Are these the only two differences with the CRS? And, to determine the haplogroup, did they test only HVR1 or also other locations on the mtDNA? Sometimes people are assigned to a haplogroup only on the basis of HRV1. but often the same HRV1 can exist in different haplogroups, so further tests may be necessary.

Haplogroup N is the name of the big group from which almost all Western Eurasian mtDNA sequences are derived. Haplogroup H is a sub-sub branch of N. However, if you were told N, but not H (or other groups), most likely it means that you belong to N but _not_ to a known studied subgroups (ie, you are not H). I quickly browsed a recent paper by Palanichamy et al. (Phylogeny of mitochondrial DNA macrohaplogroup N in India). The paper lists 16292 and 16159 as mutations defining the subgroup of haplogroup N which they call N2. One of the branches of haplogroup N2 is haplogroup W. Haplogroup W is rather rare. It is present from India to Central Asia to the Baltic area. However, I am not an expert on mtDNA, so I don't know if your HRV1 motif is found in other groups as well.

cacio

[Marcia S.]

Cacio,
Thanks for replying. In answer to your question, FTDNA only showed those two HVR1 numbers for me. I actually signed up for the Genographic site, then had the results transferred over. Both Genographic & FTDNA said I was in Haplogroup N. I'm wondering if I should have an additional test done to get more detail since apparently the test was only done for the 12 marker info., and if so which test would be the one to get this additional detailed DNA result? I'm beginning to think I should have taken an FTDNA test to begin with, because I see there's different marker tests that can be done.
And thanks for trying to check further, the W haplogroup would sort of make sense. My grandmother was Ruthenian (Russian), which would place her and her parents, etc. in the Baltic location.
Marcia S.

[cacio]

The work for the genographic project is done by FTDNA, so they simply report the same result. Just to make sure, you can send them an email directly asking if
1) you were assigned to N only on the base of the HRV1 sequence, or if they did other tests
2) they offer other tests that may give more information.
They usually answer nicely.

I doubt they have any relevant test, though, if you are really N*. This is not a very common group, so I am pretty sure that they have not developed any particular test for it (unlike for other more common groups like H). One thing you could do, if you can spend $150 more, is to have ftdna test HRV2. This is another area of the mtDNA. If you get HRV2 results that are also consistent with N*, that may be useful information.

If you have not done this before, I would upload your results on www.mitosearch.org (you can do it from your ftdna webpage). When you do so, you can have access to a large database of mtDNA data, and you can search for genetic matches. I just browsed quickly. Many people in haplogroup W share your mutations, but they usually have a couple more. Some people in N* also have your mutations, and you may have matches there. This seems to suggest that you assignment is sensible. But again, if you upload and check yourself, you can make sure that you have no matches anywhere else.

Since your group is relatively rare, your result is very interesting. N* lineages are probably ancient, but as your result shows, they may have survived, above all in Russia, central asia and India.

[mschris]

Hello Marcia,

Welcome to Haplogroup N. I am also new to this and will not be able to answer all of your questions. However, my father's mt haplogroup is also N*. I am still waiting for the HV II results. My father's reported difference from CRS matches very closely to the N1a motif, but is not classified as such. I believe Cacio is correct and FTDNA does not currently test for subclades of N. However, that could change in the future.

I believe N is a very old haplogroup. Although it is rare today, it appears to have been less rare in the neolithic and paleolithic eras. I will try to locate a few papers that provide some insight into this haplogroup.

My father's Ysearch ID is 2VYBY. Our oldest known ancestor is Eva Bauer born in 1762 in Pennsylvania. This family is almost certainly to have immigrated from Germany or one of the germanic countries.

Chris

[vraatyah]

cacio, only one N2* sample was published, it's a complete sequence in Derbeneva 2002 paper from a Mansi individual. So, if a lineage falls into N2, it's more likely to be in W.

Marcia, your type can fall into 3 haplogroups: W, H and R*. First, I recommend you to get the hvs2 sequence.

1) If it possesses 189-195-204-207 you are in W and nowhere else. There are at least 3 published W haplotypes with back transition at 223, I believe, all these samples were checked with RFLPs.

2) If the hvs2 doesn't show features characteristic of W, you may follow these steps. Ask your company for 7025AluI test. Several published hvs1 sequences that match your type were classified as H after the RFLP check. I'd say, this is the most likely haplogroup for your sequence.

3) There are some Indian lineages that have 292 in hvs1, positive for R and negative for the main R haplogroups. I think, their area is limited to South Asia only and your own lineage after being tested properly will fall into certain haplogroup.

Only few hvs2 sequences were published for H 292 and R 292 and they are quite close to CRS.

[vraatyah]

btw, you may ask the company for RFLP test before the hvs2 sequencing. I believe, it's for free.

[cacio]

vraatyah:

only one N2* sample was published, it's a complete sequence in Derbeneva 2002 paper from a Mansi individual. So, if a lineage falls into N2, it's more likely to be in W.

Thanks. As you say, I checked Palanichamy and her N2* sequence is taken from Derbeneva. That sequence has 16319 and 16153, which are absent here. (I'm quite new to mtDNA, I just started reading recently after getting my result, U1a).

Mschris:
did you check your sequence with the famous Science paper by Haak on Ancient DNA from the first European farmers? The claim of that paper is that Neolithic agriculturalists in Germany and Central Europe had lots of N1a, which then later somehow disappeared. If you or your father are really N1a, you may be one of these few surviving Neolithic (?) lineages - and exactly in Germany, where the skeletons were found.

[Villicus]

Welcome to haplogroup N and good luck with your searching. It is not the easiest one to find info on. FTDNA has me as N* with no matches at HVR2, but I have over twenty matches at HVR1. They are all listed as haplogroup X. I sent my results to another company who advised that I belong in X. I guess we just have to wait for more people to test to get a fix on our geographic origins.

[mschris]

Cacio,

Yes, I did check the Haak paper and found it very interesting. I do believe that N1a may have been more common in the Neolithic. For reference here are the motifs for my father (DM9RS) and the Haak samples:

DM9RS 086C 147A 223T 248T 320T 355T 519C

HAAK:
DERENBURG 1 147A 172C 223T 248T 355T
DERENBURG 3 147A 172C 223T 248T 320T 355T
HALBERSTADT 086C 147A 172C 223T 248T 320T 355T
FLOMBORN 147A 172C 223T 248T 320T 355T
UNTERWIEDER 129A 147A 154C 172C 223T 248T 320T 355T
ESCEGFALVA 147A 172C 189C 223T 248T 274A 355T
Dad does not show 172C, possibly a back mutation? He does have one exact match at FTDNA. Otherwise, his closes matches are listed in this paper.

Thanks to all.

[cacio]

mschris:

They seem rather close, given the chronological distance. In 7-10K years
many mutations can happen (not to mention the probability of testing errors). Halberstadt seems a particular fit. Does the family come from the areas where the skeletons were discovered? That would be quite something.

Why don't you send an email to the authors of the paper? Most of the times, they have no time to answer. But sometimes they do, and they may find the thing interesting.

[Marcia S.]

Hi everyone,
Gosh, thanks so much for all the information and your suggestions. I have to admit some of the info was over my head, but I'm new at this, so I'm learning as I go along. Obviously I will need to have additional testing to really determine whether I'm truly an N or X, W or whatever. Since I only had some matches at the 1st level and not the 2nd, I assume the additional testing will provide more matches. I'm still not clear on the #'s I showed as mutations, can anyone clarify that for me? Are those numbers the ones we match to with other people? And can those #'s appear in other Haplogroups as well? Or are they specific only to the Haplogroup you test as? Sorry to be so un-intelligent, but this is all so new to me, and I'm having trouble getting past this area. I do appreciate all the information, and have found some of the articles you all referenced and am trying to understand it as much as I can.
I'm disappointed they don't do deep subclade for N, but I found they do it on R1A which is my brother's, so I'm going to pursue tha. And I will check with FTDNA for additional testing for myself to determine which ones I need. I signed up for the Genographic project, and after reading all the messages on the FTDNA board, I've learned that apparently they didn't test as deep as I would like. Oh well, learn something new everyday!
Thanks again.
Marcia S.

[cacio]

Marcia:

I'm sure vraatyah will give more precise information. but anyway, just quickly, the way the results are posted is the following. There is a reference mtDNA sequence (which happens to belong to haplogroup H, and which is usually referred to as CRS=common reference sequence), so when reporting your results, what they tell you are only the values that are different from this reference sequence (people talk about mutations, although this may not be the right word - it may be the carrier of the reference seq who mutated!). So it means your HV1 is the same as the reference sequence _except_ those two numbers. In fact, if you look at your ftdna page, you can see your whole HV1 sequence with 600+ numbers, the vast majority of which turn out to be equal to CRS.
So if you see another person who has exactly your "mutations", it means that he or she has exactly your hv1, ie that person also has hv1 identical to the reference sequence except those two. if a person has your two mutation plus another one, it means that she differs to you by one, because while that person has an additional mutation, you are the same as the reference sequence in that third location. So the way the results are reported does not depend on which haplogroup one has been assigned to - the assignment comes later, after they have looked at your hv1.

as vraatyah wrote (and he will be able to confirm), your hv1 sequence, while typical of W, is found also in haplogroup H. The point is that the mutations that really define haplogroup H versus W versus others are found in a different location of the mtdna, which is not part of the small part called hv1. so checking another part, called hv2, may give information, if in fact that part differs between H and W (which I don't know).

cacio

[Marcia S.]

cacio,
Thanks for your explanation. It does make it a little clearer to me about the mututations. When FTDNA posted my DNA results I thought there would be a better explanation of how to understand it (maybe there is and I'm just not getting it!), but reading your post did clarify things for me a lot better. I knew the mutations had something to do with the results, but there had to be more to it. As I said, I'm in basic learning mode so I have a ways to go. It's really helped me out posting to this forum and reading all the other questions and answers on the other FTDNA forums. I'm contacting FTDNA via email and requesting additional testing be done for myself and my brother. I've been unable to go back very far in family history, since both sets of grandparents came from Europe, and now there's no one to ask anymore. Since it's going to take a lot more work trying to track down history over in Czechoslovakia, Poland, Austria and Russia I thought doing the DNA thing would be the other alternative I could take in trying to trace my roots. Thanks again! Marcia S.

[shekron]

N* Haplogroup

My MtDNA tests came back Haplogroup N*...but they first had me in I.
HVR1 - 223T and 519C
HVR2 - 73G, 143A, 189G, 192C, 194T, 195C, 196C, 204C, 207A, 163G, 315.1C

I can't seem to find any information on N*. Some of the experts on the Roots DNA board thought I should be a W...so I don't know what I really am. I would appreciate any sites that might explain this better. I have 2 exact matches on the MtDNA data base. One is a N* and the other is a W????? Can this be right?

Thanks,
Sheryl Kronebusch