Mitochondrial DNA – Your Mom’s Story

Have you ever wondered why you would want to test your mitochondrial DNA? What would a mitochondrial DNA test tell you about your ancestors? What would it mean to you and how would it help your genealogy?

If you’re like most genealogists, you want to know every single tidbit you can discover about your ancestors – and mitochondrial DNA not only tells us about people we match that are currently living, that share ancestors with us at some point in time, but it also reaches back beyond the range of what genealogy in the traditional sense can tell us – past the time when surnames were adopted, peering into the misty veil of the past!

Every single one of your ancestors has their own individual story to tell – and if you really want to know who you are and where each ancestral line came from, mitochondrial DNA is the insider story on your mother’s matrilineal line.

What Is Mitochondrial DNA?

Mitochondrial DNA a special type of DNA that tells the direct line story of your mother’s mother’s mother’s heritage – all the way back as far as we can go – beyond genealogy– to the woman from whom we are all descended that we call “mitochondrial Eve.”

Mitochondrial DNA is never mixed with the father’s DNA, so the red circle pedigree line above remains unbroken and intact and is passed from mothers to all of their children, as you can see in the brother and sister at the bottom. Only females pass mitochondrial DNA on to their children, so all children carry their mother’s mtDNA. The great news is that everyone can test for mitochondrial DNA, unlike Y DNA where only males can test, shown by the blue square pedigree line above.

However, because of the surname changes in every generation for females, you can’t tell at a glance by looking at your mitochondrial matches’ surname if you are or might be related, like you can with Y DNA which tracks the direct paternal line which means the surname typically doesn’t change. If your match doesn’t list a common ancestor that you recognize, you may need to do some genealogy work to search for that ancestor.

This doesn’t mean mitochondrial DNA isn’t useful, because it can provide you with lots of information – some of which is useful genealogically and some that provides you with knowledge of where your matrilineal line came from and their course of travel through time, over hundreds and thousands of years.

Mitochondrial DNA is an extremely underutilized resource that gives us the ability to peer down the periscope of one family line for thousands of years.

Not to mention, it’s just plain fun!  Who doesn’t want to know more about our ancestors, and especially when the information resides within us and is so easy to retrieve.

Family Tree DNA provides 10 great mitochondrial tools for every customer. Let’s take a look at what you receive and how to utilize this information.

Haplogroup

Everyone who tests their mitochondrial DNA at Family Tree DNA receives a haplogroup assignment. Think of a haplogroup as your genetic clan. Haplogroups have a history and a pedigree chart, just like people do. Haplogroups and their branches can identify certain groups of people, such as people of African descent, European, Asian, Jewish and Native American.

While the matrilineal DNA is passed intact with no admixture from the father, occasionally mutations do happen, and it’s those historical mutations that form clans and branches of clans as generation after generation is born and continues to migrate to new areas.

If you take the entry level mtDNA Plus test which only tests about 6% of the available mitochondrial markers, those most likely to mutate, you will receive a base haplogroup, because that’s all that can be determined by those markers. If you take the mtFull Sequence test which tests all of the 16,569 mitochondrial locations, you will receive a full haplogroup designation, plus a lot more.

What’s the difference? In my case, my full haplogroup is J1c2f, meaning that my branch of haplogroup J is the result of 4 branching events from mother haplogroup J. Haplogroup J itself was formed by a defining set of mutations. The first branch was J1, then J1c, and so forth.

Haplogroup J was formed someplace in the Middle East and its branches are found primarily in the Mediterranean, Europe and western Asia today, plus, of course, diaspora regions like the Americas, Canada, Australia and New Zealand.

The mitochondrial Haplogroup J Project at Family Tree DNA provides a map of the most distant known ancestors of Haplogroup J members, including all branches, shown below.

My branch, haplogroup J1c2f, a rare haplogroup, is found in a much more restricted geography. It has taken 10 years or so to accumulate 10 pins on the map.  Of course, there would be more if everyone tested and joined their haplogroup project.

How Old is Haplogroup J?

With the mtFull Sequence test, you receive a lot more information than with the mtPlus test, for not a lot more investment, as you can see in the chart below and as we work through results.

Haplogroup Born Years Ago Receive With Test
J 34,000 mtPlus
J1 27,000 mtFull Sequence
J1c 13.000 mtFull Sequence
J1c2 10,000 mtFull Sequence
J1c2f 1,000 mtFull Sequence

Estimated dates for each haplogroup branches “birth” have been provided in the paper, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root by Behar et al.

Haplogroup J itself was born about 34,000 years ago, someplace in the Middle East or near the Black Sea.

Haplogroup J1c2f was born about 1000 years ago, and utilizing the map of J1c2f in combination with the known history of my full sequence matches allows me to learn where my ancestors were in more recent times. In my case, I’m fascinated by that cluster in Sweden and Norway, all of whom I’m related to with in the last 1000 years or so. Is there a message there for me about where my ancestor lived, perhaps, before the first documentation of my ancestral line in Germany in 1799?

More Please

Are you starting to see the benefit to mitochondrial DNA testing? We’ve only scratched the surface.

At Family Tree DNA, your haplogroup is shown in the upper right hand corner on your personal page dashboard.

In the mtDNA section, additional tools are shown. Let’s look at each one and what it can tell you about your matrilineal line.

Please note that you can click to enlarge any image.

You can always navigate to the Dashboard or any other option by clicking on the myFTDNA button on the upper left hand corner.

Matches

The first place most people look is at their Matches page. In my case, I have 38 full sequence matches. Full sequence matches are the most likely to match in a genealogical time frame. You can see by just looking at my matches below why entering the name of your earliest known ancestor (under Manage Personal Information, Account Settings, Genealogy) is so important!!! That’s the first thing people see and the best indication of a common ancestor. I always include a name, birth/death date and location.

As you can see, most of my matches (names obscured for privacy) have trees attached to their results and many have also taken the family finder test. Both are great news for me!

I can then view at my HVR1+HVR2 matches, which is equivalent to the mtPlus test today.

I have 266 HVR1+HVR2 matches, many of whom have also taken the full sequence test. Those who have taken the higher level test, I can disregard because their results, if they match, are already included on the full sequence match page. I do review the people who have not yet taken the full sequence test because a valuable match may be lurking there.

I can e-mail my matches by clicking on the envelope.

Results

Next, let’s look at our results. This page should really probably say “raw results,” because as many people say, “it’s just a page of numbers.”  Yes, it is, but there is magic in these numbers because they are the key to “everything else mitochondrial.”

This page shows your mutations – in other words, what makes you both different from other people and the same as people you match, which isolates your matches to people with whom you share a common ancestor at some point in time. The fewer mutations difference, generally the closer in time your common ancestor. If you match someone exactly, it means you share all of the same mutations, including “extra” and “missing” mutations typically found in people who carry your hapologroup.

There are two formats provided, the RSRS and the CRS, which I explained in the article, The CRS and the RSRS. You don’t need to know these details, but they are available if you are interested.

Some of these mutations shown are your haplogroup and subgroup defining mutations. For example, haplogroup J1c2f is defined by the mutation at location 9055, shown above. If you have all these mutations but don’t have G9055A, then you’re not haplgroup J1c2f, you’re J1c2.

Haplogroup Haplogroup Defining Mutations
J C295T, T489C, A10398G!, A12612G, G13708A, C16069T
J1 C462T, G3010A
J1c T14798C
J1c2 A188G
J1c2f G9055A

Most mutations shown, other than haplogroup defining mutations, are typically found in your subgroup, but others are “rare.” It’s those rare extra or missing mutations that are your family-line-defining mutations. In my case, both G185A and G228A are family line defining. But you really don’t need to worry about this unless you are going to take a deep dive, because the matching and other tools included by Family Tree DNA provide further analysis in ways far easier to understand and without you having to understand or worry about the nitty-gritty details.

The beauty of these numbers, is, of course, in the underlying story they tell us. You can’t have matches without these numbers. You also can’t have maps or anything else without the raw mutation information.

Let’s look at the story they tell.

Matches Maps

One of my favorite tools is the Matches Map because it shows the most distant ancestor for all of your matches that have provided that information.

Hint: You MUST enter the geographic information through the “Update Ancestor’s Location” link at the bottom of this map for YOUR ancestor to be displayed on THIS map (white pin) and also on the maps of your matches. You can see how useful this information is!  I wish everyone would do this, even if they are adopted and the only information they have is where they were born! Clusters are important for genealogy matching as well as for more distant origins.

You can also display your match list by clicking on the “Show Match List” link under the map. You can click on the pins on the map to display the accompanying information.

On the full sequence map, your exact matches are shown in red, 1 step mutations in orange, 2 steps in yellow, so you can easily look for clusters.

Once again, the Scandinavian group stands out because many are exact matches to my German ancestor. Do you think there might be a message there?

If not for my mitochondrial DNA, how else would I ever obtain this information, given that the German church records ended in 1799 for my matrilineal line? Did they end in 1799 because my ancestral line wasn’t in Germany before that?

Migration and Frequency Maps

Are you wondering how your ancestor and her ancestors arrived in the location where you first find them?

The haplogroup Migration Maps show you the ancestral path from Africa to, in my case, Europe.

The Frequency Map then shows you how much of the European population is haplogroup J, which includes subgroups.

Haplogroup Origins

The Haplogroup Origins page shows me the distribution of my haplogroup, by region, by match type.

For example, I have 7 exact matches in Norway and 1 in Poland. Only a portion of my Haplogroup Origins page is shown here, and only the Full Sequence Matches.  HVR1 and HVR1+HVR2 matches are displayed as well.

Ancestral Origins

The Ancestral Origins page shows my matches by Country along with any comments. My matches shown don’t have any comments, but comments might be Ashkenazi or MDKO (most distant known origin) when US is given as the most distant ancestral location.

Again, I’ve only shown my full sequence matches.

Advanced Matching Combines Tools

Another of my favorite tools is Advanced Matches, available under the Tools and Apps tab.

Advanced Matches is a wonderful tool that allows you to combine test types. For example, let’s say that you want to know if any of the people you match on the mtDNA test are also showing up as a match on the Family Finder test. You could further limit this by project as well.

Be sure to click on “show only people I match in all selected tests” or you’ll receive the combined list of all matches, not just the people who match on BOTH tests, which is what you want.

There aren’t any people that match me on BOTH the Family Finder test and the full sequence mtDNA test, which tells me that these matches are several generations back in time.  For purposes of example, I’m showing my two matches on both the HVR1 and the Family Finder test, below – just so you can see how the tool works.

Because both of these people tested at the HVR2 level, where we don’t match, the mitochondrial part of this match is likely hundreds to thousands of years ago and isn’t connected to the Family Finder match.  However, if these two matches had NOT tested at a higher level, where I know we don’t match, the combined match of mtDNA and the Family Finder test might be a significant hint as to our common ancestral line.

Of course, for adoptees, finding someone with whom you match closely on the Family Finder test AND match exactly on the full sequence test would be very suggestive of a matrilineal common ancestor in a recent timeframe.

Combination matching is a powerful tool.

Projects

We started our discussion about mitochondrial haplogroups by referencing the MtDNA Haplogroup J project. Family Tree DNA has over 9000 projects for you to select from.

Thankfully, you don’t have to browse through them all, as they are broken down into categories.

  • Haplogroup projects are categorized by Y or mtDNA and then by subhaplogroup where appropriate.
  • Surname projects exist as well and are searchable for your genealogy lines.
  • Geographical projects cover everything else, from geographies such as the Cumberland Gap region of Appalachia to the American Indian project. Some projects focus on Y DNA, some on mtDNA, some both plus include people with autosomal results that pertain to that project.

Project administrators can enter surnames that pertain to their project so that Family Tree DNA can match the tester’s surname to the project list to provide the tester with a menu.

Please do READ the project description before joining, as lot of people join every project listed, even though the surname listed in that project in no way pertains to their family.  For example, in the Estes list above, my Estes line is in no way connected to the Estis family of the Ukraine or Fairfield County, SC nor are they haplogroup I, so joining the haplogroup I-L161(Isles) Y DNA project would be futile even if I was an Estes male.

Needless to say, if you’re a female who did not test under your birth surname, the project menu won’t be relevant to you, so you’ll need to use the “Search by Surname” function, at the bottom of the menu to find projects for your surname.

You can also scroll down and browse in a number of ways, in addition to surname.

All testers should join their haplogroup project so that everyone can benefit from collaboration. Testing in isolation without collaboration benefits no one.  We all benefit from matching and sharing, both individually and as a larger group.  Think of those maps and clusters!

You can join and manage your projects from your home page by clicking on the Projects tab on the upper left.

Mitochondrial Summary

I hope this overview has provided you with some good reasons to test your mitochondrial DNA or to better understand your results if you’ve already tested.

Mitochondrial DNA holds the secrets of your matrilineal line. You never know what you don’t know unless you test. You don’t know what kind of surprises are waiting for you – and let’s face it, our ancestors are always full of surprises!

You can order or upgrade your mitochondrial DNA test by clicking here.

30 thoughts on “Mitochondrial DNA – Your Mom’s Story

  1. Hi Roberta,
    I suspect that mtDNA may change more frequently than we have been led to believe. I am 2 steps removed from other descendants of my maternal grandmother. My mother is dead and I have no siblings to test. Somewhere in that 2 generations I accumulated 2 mutations.

  2. Interesting! A few of my matches are related to the Estis families of the Ukraine. My maternal grandparents were from Ukraine.

    Sent from my iPhone

    >

  3. Would you please explain why it is important for females to test under their birth name, rather than their married name? Birth names in our culture are only relevant along the male line. Having your married name or any other coded name allows a bit of anonymity. I don’t mind revealing myself or my more distant ancestors to someone I’m related to, but I am concerned about providing information useful to identity thieves. I’ve had personal information stolen at least 3 times, including fingerprints and SSN.

    • You can certainly work around that, but in the genetic genealogy world, it’s important for a couple reasons. First, in the project recommendations, they use the surname of the tester to match. When you are linking yourself to your tree, it helps to have your maiden name for people who are searching to see if any of their surname have tested. Otherwise, you’ll get requests for your married name and none for your surname. My mother tested under her married name and I changed it to her maiden name because it made the genealogy part much easier. If you’re not comfortable doing that, it’s fine. The only people who will see your name are your matches and many people do test anonymously.

      • I tested under my married name through Family Tree. How do I change to my maiden names?

      • Sign on to your account and look on the left side of your page for the orange link that says “Manage Personal Information.” Click it. Then click on “contact information.” Make your changes and click save at the bottom.

  4. Roberta,

    Thanks so much for this timely article. Just sent in my kit acquired during the DNA day sale. My aT results were transferred from Ancestry.

  5. Roberta, Thanks so much for sharing this simplified version of why mtDNA testing is important to some people. I need this for our project members and others who ask because, at least for me and all other’s I’ve asked, mtDNA testing is pretty much useless.

    I tested with SMGF in 2001. They eventually revealed my results to me years later. My full MT Haplo is L1c1a2 according to my last SMGF report before they shut down. More recently, FTDNA confirmed by testing HVR1+HVR2. They said my MT Haplo is L1C1. They also tell me my matches are in Africa and that I have two matches in the United States (Native American).

    What does that mean? These are self identified, aren’t they? A Big-Y test confirms my MT Haplo as well. So, was my maternal ancestor from Africa, a Native American, or both? And how far back? You said yours was 1,000 years ago. That’s not very helpful in the genealogical timeframe.

    However, you did point out how clusters can point to a possible geographic origin for our maternal ancestors. That’s helpful to some but not very helpful to those of us who are mostly Western European but whose maternal ancestors may be from Africa.

    I’m from the Deep South as were most of my ancestors for the past 300-400 years. I know some of yours were too. You know how difficult it us trying to identify an ancestor whose skin may have been darker than average. That’s why I tell everyone mtDNA testing for me has been pretty pointless.

    • Yes, United States (Native American) means that one match self-identified as Native American. Of course, that could easily mean that her mother’s side had a rumor of a Native ancestor. L1c1 is African, no question. Yes, your maternal matrilineal ancestor was from Africa. I would track the maternal line back looking for any evidence that she was mixed race. In your case, I would say mtDNA has been EXTREMELY relevant. How else would you ever know that she was from Africa? You at least know what you are looking for now and you know a date range. If every record you can find says that ancestor was white, you’re narrowing that range backwards with each record. You know she arrived after the beginning of slavery, so you also have a bracket on that end.

      • Well, I’ll Suwannee! I’ve had it in mind all these years that mtDNA could indicate anything from thousands of years ago but nothing within the past 5 centuries. That pretty much left out the genealogical time period. I failed to see that, if she was black, she had to have come into this country during the slave period which was well within the genealogical time period. Though it makes me feel dumb for not seeing this, the facts you pointed out are priceless. I’ll enjoy making breakfast with the egg on my face. Now where did I put that box of grits?

    • Let me add that while it is highly probable that your mt-line came in US via slave trade, there were also African lineages in Europe back in the 16th century. One of the French Canadian matriarch, Catherine Bourg, is L1b1a and she was born in Brittany back to 1625. Your mt line could have made it to Britain back in the Roman Empire for all we know.

  6. I’ve taken the full Mitochondrial test for my father, and was confused about the results. He has a heteroplasmy in the HVR2 region(He has a result of ‘R’ at one location, which I think means some mitochondria have an ‘A’ nucleotide at this specific location and some have a ‘G’ nucleotide), and I was wondering how this affects his results. He has no exact matches at the full sequence level; could some of the matches one step removed match either the ‘A’ or ‘G’, but not both? Family tree DNA had some information on what a heteroplasmy is, but nothing I could find on how it changes the results.
    Thanks for any information

    • A person with a heteroplasmy will be a match, at FTDNA, to anyone who has an R at that location (in your case) plus to anyone who carries the CRS value. They will not be a match to anyone with the mutated value, so that can affect the match results IF the other person carries the mutated value. You can e-mail them and ask.

  7. Hi Roberta
    My father legally changed his surname. I plan to use his birth name on his test. With your experience, would you suggest I use the same surname for my brother and my results?

  8. Hello Roberta,

    I am trying to clarify some things about exact matches. Bennett has told me that the tail end of the window for exact matches could be 2200 years.

    In looking at my exact matches, he could be correct. I have exact matches from the US, Ploand, Latvia, Ukraine, Russia, France, and Ireland. Provided that everyone’s genealogy is correct, I cannot posit a situation where we share a common ancestor within a genealogical context.

    What are your thoughts?

    • You can bracket this somewhat by looking at when the haplogroup was created. Unfortunately, mutations don’t happen on a schedule. I know somepeople who have 2 mutations with an aunt, and others, like you and me, who match people exactly from a wide geography.

  9. My mt-test gave me more things to work with than my father’s y-test.

    There was only one match for the Y-DNA, our lines split not that far back, and the match was deceased for over 8 years on top of that. I’ll try Big-Y one day (when it will become cheaper), but for the moment there not much to do.

    On the other hand, with my 8 mt-DNA matches, I have 2 descendants from my last know ancetress’s other daughters (confirming my papertrail), and 4 which I can papertrail their line back around the Sea of the Hebrides, same as my progenitrix. And 2 I haven’t worked with yet.

    There’s still a lot of research to do, but at least there are hints to research.

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  12. Roberta,
    Hi. I’ve emailed you. I’m trying to verify that my mother’s father was Tuscarora Native American. I’ve just mailed my DNA test swabs into FamilyTree DNA…but I fear that this matrilineal line will not show any Native American lineage. Is there a test I can take to connect me to my Mother’s Father? Thanks!
    Deborah Dixon

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