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The mtDNA Community

Roberta Estes

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.

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