The mtDNA Community

When you look at your mitochondrial DNA results on your personal page at Family Tree DNA, the third tab, after rCRS and RSRS is the mtDNA Community. You will only see this tab if you have taken the full sequence test.

The mtDNA Community software was developed to facilitate easy donation of your full sequence mitochondrial DNA sequences for scientific research purposes.  You can read about it here:  http://www.mtdnacommunity.org/default.aspx and here: http://www.mtdnacommunity.org/about.aspx

You too can be a part of science research by uploading your mitochondrial DNA sequence so that it can be included in the sequences studied by scientists.

Many of the leaps and bounds in genetic genealogy, the discovery of new haplogroups and learning how the people who carried them lived and where they settled has been through the volunteer efforts of genetic genealogists, just like yourself.

Let’s talk a minute though about what this means.  First, we don’t yet have a FAQ about the mtDNA Community from Family Tree DNA.  Much of what is known now is through working with the products personally, Rebekah Canada and Bill Hurst, both of whom have been rather intimately involved in the research and rollout process and Max Blankfeld, the President of Family Tree DNA – all of whom made themselves available over the weekend to sort through this.

There are really two levels of research here, but one leads to the other.  If you authorize your full sequence results to be uploaded to mtDNA Community you are authorizing your results to be included in scientific research.  In the mtDNA Community, you are not anonymous.  This means that your sequence can be tracked back to you.  This is neither a bad thing or a good thing, it’s just the way it works. Of course, there are benefits to you, other than being altruistic, for uploading your information.  We’ll discuss those in a minute.

The second part of the research quotient is that when papers are written using mitochondrial DNA sequences, most of the time those sequences are uploaded, anonymously, to GenBank.  At GenBank, the contact information is the submitting researcher and paper that the sequence is associated with.  This is done, at least in part, so that this research can be corroborated by others.  So if you upload your results to mtDNA Community, you are in essence granting permission for your results to be uploaded anonymously at some point in the future to GenBank.

What is GenBank?

The GenBank sequence database is an open access collection of all publicly available nucleotide sequences and their protein translations. This database is produced and maintained by the National Center for Biotechnology Information (NCBI) as part of the International Nucleotide Sequence Database Collaboration (INSDC). The National Center for Biotechnology Information is a part of the National Institutes of Health in the United States. GenBank and its collaborators receive sequences produced in laboratories throughout the world from more than 100,000 distinct organisms. In more than 20 years since its establishment, GenBank has become the most important and most influential database for research in almost all biological fields, whose data were accessed and cited by millions of researchers around the world.

You can read more about GenBank here:  http://en.wikipedia.org/wiki/GenBank and here:  http://www.ncbi.nlm.nih.gov/genbank/

Why is this important?

The science of genetic genealogy has grown by leaps and bounds in the past few years as a result, at least in part, of vast amounts of data becoming readily available through the genetic genealogy community and citizen scientists.  Without these sequences to study, scientific advances like the RSRS model wouldn’t have happened, at least not yet.

Is providing your mitochondrial DNA sequence for research the right choice for you?

For me, it was.  I provided my sequence to GenBank some time ago.  For everyone, it might not be.  It’s a personal decision.  But once it’s uploaded and in the scientific “stream” so to speak, there is no recalling it.  Even if the mtDNA community administrators would remove your sequence, and the same for GenBank, that doesn’t mean that someone hasn’t already downloaded it for study.

Is there a downside?

I can’t tell you that there is not.  What I can say is that I don’t know of any.  The mtDNA Community is new software released in conjunction with Dr. Behar’s paper in order to facilitate the study of mitochondrial DNA.  Before, submitting your results to GenBank was not straightforward and took quite a bit of effort on your part.  Now it’s as easy as clicking….and there are some benefits to you too.  So whether you do or not, follow along as I upload my results to the mtDNA Community.

Uploading your Results

Uploading your results is easy.  Just click on the mtDNA Community tab, shown above, on your personal page.  Fill in the blanks and click on the orange Upload button which you will see to the right of the blanks (not shown here).

You will then see the screen, above.  Click on the words “mtDNA Community” which will take you to the website to create your account.

Once you’re on the mtDNA Community website, you’ll need to do some setup.  It’s minimal, but do complete the profile questions, because that process leads you to the good stuff.  And yes, there is a bug in the year selection for your oldest ancestor, but I’m sure that will be fixed shortly.

The important part of this is the information in the Results box, shown at the bottom, above, and shown enlarged below.  You will notice that these are not all of your mutations.  The mutations you carry that are part of the haplogroup designation are not shown here. 

This information displays your new, extended haplogroup under the RSRS model, but even more important, it shows you any “private mutations.” These are important, because they are your family mutations, meaning those not found in the haplogroup as a whole.  These have developed in your family line, and everyone you are related to in a genealogically relevant timeframe will carry these as well.  These are your personal filters that differentiate your family from everyone else in the larger haplogroup, or your extended clan.

There are also other matching features, but it’s unclear how this would differ, at least today, from your matches at Family Tree DNA.  Maybe eventually this data base will hold more sequences other than those donated from Family Tree DNA.  If so, this would provide us with new avenues to find matches.

We will know more when the FAQ is released and as we use this tool a bit more.

30 thoughts on “The mtDNA Community

  1. Roberta, thank you for the information regarding mtDNA Community. I look forward to updates as you know them.

  2. I have already uploaded my mtDNA and I am wondering what 8 steps away is referring to and also with the new RSRS model do you still need an exact match to be related to another person. Thank Roberta you for the information on the mtDNA Community.

    • Generally speaking, you won’t be closely related to someone who doesn’t match you exactly. Having said that, remember that a mutation can happen anytime, in any generation, and there always has to be a first generation. The RSRS is no different in that way.

    • Ancestral Origins is what someone put down as their oldest ancestor’s location, so your guess about what it means is as good as anyone else’s! It could be dead on, or it could be an assumption, or anything in-between. Use it as a hint.

      • Your oldest ancestor’s location is where your oldest direct ancestor is that line is found geographically. For example, your mitochondrial ancestor would be your mother’s direct maternal line, so her mother, and her mother and her mother, and so on until you run out of direct female ancestor’s on that line. If the oldest ancestor was found in Stuttgard, Germany, that is what you enter.

      • I am sorry, I guess I was not very clear. I understand how it works. I just meant that I only uploaded my mtDNA manually and never gave them any iformation about where my mother’s family comes from. I can only guess then that they may have gotten that information by my mtDNA only.

  3. To join the Mtdna community, do you need to have more than the first two tests done? Is the coding test needed?

  4. How can I know if I uploaded my mtDNA correctly? I don’t remember an orange upload button, but I can see results and countries listed when I click those tabs. Obviously, not many people have done this yet and the one person I match on my FGS isn’t there. I do have a “new” haplogroup T1a1 (the one is new) and some close matches.

      • I’m a bit confused about the value of these matches. I have two that are two steps away and four that are 4 steps away, but from my FMS I have one “perfect” match and he isn’t in the list.. I’ve assumed that anyone less than that “oerfect: match won’t have a close common ancestor. Is there still a reason to contact these mtMDA Community matches??

      • We are told that mitochondrial DNA mutates more rapidly than Y-line. However, at Family Tree DNA, we are only shown exact matches, so it’s hard to get a feel for mutation rates. At Ancestry, I do see matches with several mutations difference. I’m not aware of anyone ever finding a genealogical connection with someone who has a mutation difference, but surely it has happened. The most recent estimate of mutation rate that I’ve heard for mtdna was about 400-500 years max for a perfect full sequence match. Meaning, that beyond that timeframe, you could expect to have a mutation and therefore, no matches at Family Tree DNA. Remember, these are averages. Also, remember, mutations can happen at any time. I had one situation where a woman and her brother did not match. After quelling the momentary panic that ensued, we discovered that one of them had had a mutation, so didn’t officially match the sibling. After comparing raw data, it was evident that they did indeed match, with the exception of the one location. This has been a very long-winded way to say that I would probably contact the people who are only one or two mutations different. I would not bother with the one who is 4 away. You just never know. The people who have taken the full sequence test are obviously more interested and may therefore have better and more reliable records that some who are perhaps less interested. Making the contact can’t hurt. You may find a common location if nothing else.

  5. I purchased the kit today and cannot wait until it gets here. I hope it will answer a lot of the questions that I have and maybe I will finally get a match. I am excited about the new DNA test.

  6. Pingback: 2012 Top 10 Genetic Genealogy Happenings | DNAeXplained – Genetic Genealogy

  7. I thought I gave you my full sequence ‘upload’ some weeks ago. Is there any way I can check to see what, if anything, you have done with it???

    • Barbara, I only write this blog, I don’t “DO” anything with full sequence uploads and when people upload, they are not sending them to me. You might want to check on mtdnacommunity to see if you are there.

      Roberta

  8. As of 3/15/2013, the link: http://www.mtdnacommunity.org/ or any of his sub-links gives a “404 Error” when I tried to access them from two different browsers (IE or Firefox). I have not taken the full sequence mtDNA test so I do not have a mtDNA Community Tab on the MyFTDNA mtDNA Results page. However, I do have the complete results from SMGF (Genetree) and FTDNA results confirm the SMGF results.

    • Hi Ron,

      Everyone who has taken the full sequence test at Family Tree DNA had the mtdna community tab. When I checked it out today, mine is gone too. I’ll see what I can find out.

      Roberta

      • Ok, mtDNA Community was down for a bit, but it’s back up now. Also, I did check and the tab for everyone who has taken the full sequence DNA test for mtdna community is there. If you are logged in as a GAP however, and are looking at your people in a project, you cannot see that tab.

    • I just got my full sequence results back and tried to upload them to the mtDNA community website through FTDNA, but I keep getting “Unable to connect to the remote server”. Are there still problems?

  9. SMGF gave me all 3 my HVR1 HVR2 & HVR3. Is that the same thing that FTDNA calls “full sequence”? They let me retest. I figured since I already had all 3 results from SMGF (GeneTree), there was no need to pay for a “full sequence” test from FTDNA. When I asked about my mt-DNA Haplogroup, Todd at GeneTree told me in an email May 25, 2012, “we have been able to predict as far as L1c1a2.” FTDNA mt-DNA results confirm SMGF’s results as far as they were tested. Can I be pretty sure there’s no need for further confirmation?

    • No, the full sequence is entirely different from the HVR regions. Family Tree DNA includes the HVR3 in their HVR1+HVR2. The full sequence is entirely different. From there FAQ, here’s the breakdown. Mitochondrial DNA (mtDNA) has two major parts, the control region and the coding region.

      The control region is often called the hypervariable region (HVR). Hypervariable means fast changing. In mitochondrial DNA, the control region is the fast changing part. The control region may be further divided into two Hypervariable regions, HVR1 and HVR2.

      HVR1 runs from nucleotide 16001 to nucleotide 16569.
      HVR2 runs from nucleotide 00001 to nucleotide 00574.
      The coding region (CR) is the part of your mtDNA genome that contains genes. Because it does contain some genes, the coding region is believed to be slower mutating than the control region. Often, the mutations that are found in the coding region are used to define haplogroups.

      The coding region runs from nucleotide 00575 to nucleotide 16000.

      http://www.familytreedna.com/faq/answers/default.aspx?faqid=10

      • This explains a great deal. SMGF (GeneTree) told me 5/22/2012 that, “Locations are designated by number from 00001 to 16569″ and that “The control region can be divided into three regions called HVR1 (locations 16024 to 16365), HVR2 (locations 00073 to 00340), and HVR3 (locations 00438 to 00574).”
        There were also some differences between results they sent me in Feb. 2010 and the results for the same test I received from them Dec. 2010. At first they said my Haplogroup was unknown. Later they were able to identify it. Still later they were able to refine it. I needed a more reliable lab to confirm their final results and went with FTDNA because it’s well known for being the best there is. I was very pleased with what FTDNA found for both my Y results and my mt results, just wasn’t sure if I needed further testing.
        Thank you for clearing this up.

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