Saturday, August 8, 2020

How to make matches with Mitochondrial DNA (mtDNA)


How can we make genealogical matches with mitochondrial DNA? Can we extend our family trees with mtDNA? This used to be very difficult, but with the advanced tools recently released, it is now much easier. We will compare the current tools from two companies, Family Tree DNA and YFull, and see how to use them to their best advantage. We will also see how to get results into a relatively new database called mitoYDNA.

What are the origins of my great-great grandmother?


mitochondrial DNA ancestors
Women in my mitochondrial DNA line


My mother was not raised with her biological family. She was separated from them when she was six years old, and she did not see her parents or siblings again. We knew nothing about my mother's family until, after exhaustive research, I located her mother. At that time, my mother and grandmother had been separated for 52 years, so it was quite a reunion. My grandmother asked me, "If you can find me, can you find my other children?" It took awhile because this was before DNA testing, but I did find them. Then I started asking about our origins. My grandmother gave me the above photo of her maternal line. My great-great-grandmother is in the front-center of the photo. Her daughter, my great-grandmother, is on the right side of the photo. My grandmother's sister is standing in front of her mother and is holding flowers. The other women in the photo were married to my great-grandmother's brothers, so they are not biologically related to me. Even though many of these people were alive in my lifetime I never saw them. However, two of those women are my direct maternal line. I feel a real connection to them because I know that I inherited their mitochondrial DNA.

My grandmother told me that her grandmother was Native American. Is this another of those erroneous family stories about Native American heritage? Can I prove this and find out more through a mitochondrial DNA (mtDNA) test? I decided to order some mtDNA tests and find out.


What is mitochondrial DNA? 

Mitochondria are organelles found outside the nucleus of the cell. They carry their own DNA. Mitochondria are always inherited from the mother. Both males and females inherit mitochondrial DNA from their mother, but only females can pass the mtDNA to their children. So your mitochondrial DNA can be used to find out more about your strictly maternal line: your mother's mother's mother . . . .

Y-DNA and mtDNA inheritance
mtDNA inheritance is shown in red


   Why is it difficult to trace maternal ancestry with mtDNA?

Mitochondrial DNA has far fewer mutations than nuclear DNA, and it mutates much less frequently. Therefore, you may have mtDNA matches where the common ancestor is beyond the genealogical time frame. Most people have not tested their mtDNA, so it may take a long time to make a genealogical match.

We will trace the history of mtDNA testing, and see why it used to be considered almost impossible to extend maternal lines with this test. But due primarily to the innovation of Family Tree DNA (FTDNA), and with new tools from YFull and mitoYDNA, it is now very possible. 

As you will see in this post, when I did early mtDNA testing there were few, if any, matches. It could have been considered a complete waste of time and money. But the entire point of this blog post is to show that even if you don't get immediate results with mtDNA, don't give up. Lead the way. Recruit people. Get into more databases. Follow the progress below. You are leaving a lasting legacy of your maternal line. 


Early mtDNA testing

The mystery of my maternal line was really nagging me. So, many years ago I ordered mitochondrial DNA (mtDNA) tests from as many companies as were offering them at the time. Why didn't I pick just one company? Because I wanted to find as many people as possible who shared my mtDNA. I assumed that extending my maternal line with mtDNA could be a long process.


When I first ordered my mitochondrial DNA tests, all companies only tested the regions that are called hypervariable regions. These two mitochondrial regions are the ones that mutate the most, so they were considered best for tracing ancestors. The two hypervariable regions are called HVR1 and HVR2. The test results are compared to a reference sequence, and the differences are reported. The early mtDNA results were compared to the revised Cambridge Reference Sequence (rCRS). 


MITOCHONDRIAL DNA RESULTS AT FTDNA


HVR1 and HVR1 results

My MTDNA results from Family Tree DNA looked like this:

MtDNA mutations
HVR1 and HVR2 mutations

In addition to receiving the mutations I was assigned a basic haplogroup, U5b. A mtDNA haplogroup is a broad grouping of people who share similar mtDNA results and have a common ancestor in the distant past. At the time I received these results, haplogroup U5b was mostly known for being associated with Finland. It appeared that 
U5b was definitely not a Native American haplogroup! What were my maternal origins? 

Along with the mtDNA results, I got a list of people who had the same, or very similar, mutations. Here is an example of how these results would have appeared:

mtDNA match list at FTDNA
mtDNA match list

The name of the person taking the mtDNA test is listed in the first column. In the second column is a link to email the person, a place for notes, and the notation HVR2 which means that the person tested regions HVR1 and HVR2. The third column contains the name of the earliest known ancestor, and the fourth column is the mitochondrial DNA haplogroup. 

To be perfectly honest, most of this information was pretty useless.  There is no way with HVR1 and HVR2 results to tell how closely these people are related because there is no genetic distance indication or any way to compare the actual DNA mutations. The Earliest Known Ancestor column was often of little value because in many cultures the woman's surname changes upon marriage, so every generation there is a new surname. Most people did not enter enough information in this column.

The biggest problem was that there were so few mutations, and they were shared by so many people.

Full Sequence mtDNA at Family Tree DNA

One day I was looking at my Family Tree DNA account and noticed something that was not there the day before. Family Tree DNA was offering a full-sequence mitochondrial DNA test! No other company offered this test. I knew that I needed more mutations, so I was very excited. I was less excited when I saw that the price was $895 [It has since come down considerably!!], but I immediately ordered the test because these mtDNA results might actually help break through this maternal brick wall. 

I was told by FTDNA that I was the first person to ever order the full-sequence mtDNA test, so when the results came back, of course, I had no matches at all. In fact, I was assigned a new haplogroup that had never been seen: U5b1c. 

You may wonder, if I knew I would have no matches, what's the point of upgrading? Because even with meager beginnings, eventually you may make a great match. If you want to encourage other people to test your mtDNA line, somebody has to go first. 

With no matches at all, what could I do with these results?


The first-ever haplogroup project

It was (and still is) far easier to trace ancestors with Y-DNA because the male surname in a family may have remained intact for multiple generations. Also, there are many more mutations, and the Y-DNA mutations could be compared by joining a surname project. At the time I first tested mtDNA, the only kind of project or group that existed at any company was the surname project. The display of Y-STR mutations in a Y-DNA surname looked something like this:


Y-STR comparison
Y-DNA STR comparison in FTDNA surname group

These men all share the same surname. We can see that these three men appear to be related, and one of them has one mutation that the other two men don't have. We needed a way to do the same thing with mtDNA mutations. But surname projects would not be useful for mtDNA because of the continual changing of maternal surnames. So I was trying to come up with some way to compare mtDNA results. 

I came up with the idea of a haplogroup project. This kind of grouping did not exist at any DNA company. I contacted three of the companies where I had tested my mtDNA and asked if I could start a haplogroup project. Two of the companies said no. One company, Family Tree DNA (FTDNA), said they had never done this before, but they would consider it. In 2005, the first-ever haplogroup project was formed. I joined my new U5b project, and, of course, I was the only one in it. Not too useful! So I contacted my HVR1 and HVR2 matches and asked them to join. I posted in the relatively few relevant online forums that existed at the time, and pretty soon more mtDNA haplogroup projects started forming, people started joining them, then Y-DNA haplogroups started. From that small beginning, haplogroup projects are now considered by many to be an essential part of our ancestral research.


Display of mtDNA results in a FTDNA haplogroup project

Now that we had a way to compare mutations, we could begin to do something with mtDNA. As the price went down many people started testing their full mtDNA sequence, and the haplogroups started refining. 

Here are results from a Family Tree DNA project. In mitochondrial DNA projects at Family Tree DNA, only the HVR1 and HVR2 mutations are shown, even for people who tested their full sequence, because some people would not want their full list of mutations to be displayed. The columns below show the earliest known maternal ancestor, the country of origin, the haplogroup, and the HVR1 and HVR2 mutations.

HVR1 and HVR2 comparison
Comparing mutations in FTDNA haplogroup project

Making mitochondrial DNA matches with the above information can be very difficult:

1. Many people do not enter enough information about the earliest-known maternal ancestor.

2. The Country field can be very misleading. For example, people have been told in the past not to select "United States" unless the ancestor was Native American. Next, what does "origin" really mean? If someone has traced her ancestry to the 1850s in North Carolina, but heard that the ancestor might have immigrated from Ireland, did this person enter United States or Ireland in the country field? Were the ancestors in Scotland before they emigrated to Ireland? Without more precise information about the earliest known ancestor, we can't tell much from the Country field. Furthermore, the country of origin is not specific enough. For example, there's quite a difference between Alabama and Massachusetts in the United States, or between the Fujian Province and the Gansu Province in China.

3. The main problem with HRV1 and HVR2 mtDNA mutations is that there are so few of them, and some of them can be quite old. Are any of the above mutations shared by everybody within haplogroup U5? Are any of them shared in another haplogroup? We can't tell by looking at these results. 

Even with the above shortcomings, limited results can still be useful. The first person in the chart above tested both HVR1 and HVR2, so there are more mutations to compare. The second and third people only tested HVR1, and hundreds of people in the U5 group may share those mutations. You really need a more complete list of mtDNA mutations. However, there is one result above that is useful for tracing ancestry: the second one. 


How can you use limited mtDNA results to trace ancestors?

To extend your mtDNA line at FTDNA, having matching mutations is not enough. Matching mutations with an ancestral surname are not enough. What you need is the information found in the second row in the example above. Along with the list of mutations you need a name, date, and place where the earliest known ancestor lived. For example, if you had a maternal ancestor who was born about 1865 in or near Broome County, New York, her parents could have lived there around the 1840s when Rhoda Ann Collar was born. If your HVR1 mutations match, you have somewhere to start. You might try to connect your family tree to Rhoda Ann Collar, and you would definitely want to encourage the descendant of Rhoda to upgrade her results to a full mitochondrial DNA sequence to see if the two of you are still matches. 

Here's an example of such mtDNA success. Shortly after the U5b project was formed at Family Tree DNA, I noticed that one woman had matching HVR1 and HVR2 results with another woman in the project, and their earliest known ancestors had lived in the same county. One of the women had traced her family much further back than the other woman. So I traced the ancestry of the woman who had less information and was able to extend her ancestral line three generations further when I connected her line with one of the other woman's ancestors. This was only possible because we were able to compare their results in a haplogroup project.

Yes, tracing ancestry with mitochondrial DNA can be difficult, but it's definitely possible!

More refined haplogroup with full-sequence results

Hypervariable region results can only estimate a broad haplogroup like "U5." But the full sequence results can provide a more precise haplogroup that may get further refined as more people test their mtDNA. 

GenBank: Advancing scientific research

In 2005 nobody with haplogroup U5b1c was in GenBank which is the database of the National Center for Biotechnology Information (NCBI). GenBank is very important for researchers. I wondered if there were any way to get my results into that database. I found that there was a man, Ted Kandell, who was doing programming to try to make FTDNA submissions compatible with the GenBank database, but GenBank had not yet agreed to the submissions. So, Ted did the programming, and I helped negotiate with GenBank. In 2006, both of us submitted our full-sequence results. 

Submitting to GenBank helps refine the mtDNA haplogroups for all further testers, and it is possible for you to contribute to scientific research by submitting your full mtDNA sequence.


Progress at FTDNA with Full sequence matches

Although my full-sequence mtDNA results were originally assigned to haplogroup U5b1c, there have been many more testers in the fifteen years since that test. I now have 19 exact full-sequence matches at Family Tree DNA, and the haplogroup has been further refined to U5b1c2. Here are some of the matches:

mtDNA matches
Full-sequence mtDNA matches at FTDNA

Notice that with full-sequence results there is a Genetic Distance column. The 0 in the Genetic Distance column shows that this is an exact match. The name of the person taking the test is next, and if you click on the name you will see the person's profile information and email address. Some of these people actually have family trees as shown by the 
FTDNA family tree symbol
Family Tree symbol

The ability to add a family tree is an extremely important advantage for making matches. 

To compare the individual mutations you must still join a project.


Differences in Full-sequence mtDNA haplogroups at FTDNA

Today, in FTDNA mitochondrial DNA haplogroup projects the display of results looks the way it did in the beginning with one exception: the names of the haplogroups have been expanded beyond the basic U5 or U5b. [I removed the first few columns in the screenshot below to focus on the one that changed.]

expanded mtDNA haplogroup
Refined mtDNA haplogroup

Although the results have not changed, the number of people in many of the mtDNA groups has expanded dramatically.

Precise locations for mtDNA matches

The most useful feature for making mtDNA matches is not found in your FTDNA match list or in your haplogroup project. By far, the most important piece of information for mtDNA matching is the place where your ancestor lived. The best matching information is found in the Matches Maps section of your FTDNA account.

mtDNA maps at Family Tree DNA
Matches Maps at FTDNA

When you click on this link you will be taken to a map. Many of my matches have added the exact location coordinates to their most distant ancestor. While this precise location does not show up in the match list or in the haplogroup project, it does show up in the Matches Maps. 
mtDNA origins map
Map of mtDNA origins

You can click on any pin to find more information. Your own pin is the white one. The locations for the most distant maternal ancestor of your exact mtDNA matches are colored red. Remember, however, that these are locations reported by your matches. Look at their family tree to verify this information. For example, I clicked on the red pin at the bottom left, and here is one of my exact matches:

mtDNA matches map at Family Tree DNA

This appears to be a paternal ancestor, not a maternal ancestor. This person is on my match list and has no family tree. So I will disregard this pin unless it is verified that the maternal ancestor was named John or that the most distant known maternal ancestor was John's daughter who lived in this location.

These pins have the most potential for allowing you to make great matches, so be sure to update the most precise location for your ancestor, if known. Instructions appear in the "How to make matches with Mitochondrial DNA" section below.


A second mitochondrial DNA test at FTDNA

In 2007 I ordered a full-sequence mtDNA test for a Chinese relative of mine. We will call her Mary. Mary has always lived in China, and most people who test at Family Tree DNA are from the United States. Mary is in haplogroup M8a2b. Since Mary didn't have any close matches, I went no further until YFull started mtDNA groups (discussed below). So those results have been sitting for 13 years.

Grouping in mtDNA projects at FTDNA

There is no M8 or M8a project at Family Tree DNA, but there is a haplogroup M project, so Mary has recently been put in that project. Projects at FTDNA require manual grouping by the project administrators. Mary is in the last row of the Ungrouped section:

Ungrouped DNA results
Ungrouped results in FTDNA haplogroup project

If we look at the M8 section of the haplogroup M project we can see that when Mary's results are moved to the appropriate subclade of haplogroup M, Mary will still have no matches in the project. There are only two people in the M haplogroup project who are within subclade M8. Neither of them is in haplogroup M8a2b.

haplogroup M8
Subclade M8 in mtDNA haplogroup project M

With no matches to compare, Mary's results will still have to wait until more people test. Mary needs to be in more than one database. Her results were submitted to YFull.


MITOCHONDRIAL DNA RESULTS AT YFULL


What is YFull?

YFull is not a DNA testing company. YFull is an analysis and comparison service for Y-DNA Next Generation Sequencing and full mitochondrial DNA sequences. These interpretation and comparison services are quite different from those found at any DNA testing company. 

Why would you want to submit your 
mitochondrial DNA results to YFull?

At YFull, your results will be compared to scientific samples and to people who tested at different companies. This will prove to be increasingly significant because the full mitochondrial DNA sequence can be extracted from full genome tests, and people are now beginning to test their full genome at various companies and transferring the results to YFull. Furthermore, there will always be more scientific studies.

YFull only began to do mitochondrial DNA analysis in 2019, and so many people do not know about its mtDNA services. It is possible that you may not yet have many matches there. However, even though many of YFull's mtDNA services are just starting you will learn much more about your mitochondrial DNA from YFull's matching system and YFull's groups.  


Mitochondrial DNA matches at YFull

When you submit results to YFull you will see a menu of options for Y-DNA and for mtDNA. Here are the current options in the mtDNA menu:

YFull mtDNA menu
mtDNA menu at YFull

When you click on Hg [abbreviation for haplogroup] and SNPs,  you will see a screen similar to the following. Only the first two lines are shown below.

YFull mtDNA haplogroup and SNPs
Haplogroup and SNPs

Here is a closeup of the SNP information on the right of the screen:

mtDNA haplogroup and SNPs
mtDNA haplogroup and SNPs

For the first mutation on the list, the Reference Sequence has A at position 15052. This is called the Ancestral value (Anc). The tester has a G in this position which is called the Derived value (Der). So the mutation is listed as A15052G.

Notice at the top of the image that you can download three versions of your results at any time. 

Here is a closeup of the left of the screen:

mtDNA haplogroup at YFull
mtDNA haplogroup

Hover your mouse over on the name of the haplogroup. The green haplogroup name turns yellow to indicate that it will now go to your branch of the YFull mtDNA tree. 


branch of mtDNA tree
Click to go to YFull public mtDNA tree

Click on it to be taken to your placement in the YFull mtDNA tree. You can scan up and down the tree to any position. I did this, so in the example below we are seeing results from haplogroup HV4.

YFull public mtDNA tree
Some DNA samples in mtDNA haplogroup HV4


The above screen shows a portion of the public YFull mtDNA tree. All DNA samples are identified only by an ID number. The ones beginning with YF are from people who submitted their results. The others are from scientific studies. You can click on any haplogroup name to see just that portion of the mtDNA tree, or you can click on the tabs above to see earlier haplogroups. 

Each time the tree is updated, you will see the notation "New" next to samples that have recently been added. In the above screenshot there are four samples from scientific studies, and three have countries of origin. Of the three private submissions, only one has a country of origin, but it also has a specific region. Hover the mouse over the abbreviated place names to see the place in full. The specific regions of a country are especially useful.

This is the only information available to the general public, but you can find much more by clicking on the Mt matches link in your account menu.
YFull mtDNA matches
Click on mtDNA matches


Mitochondrial DNA match lists at YFull

Your matches can evolve rather quickly. For example, a few months ago I was identified as U5b1c2 at YFull. I was moved to a more downstream subclade in the next version of the haplotree, and even further in the version of the tree that was released this week. Each time I get a new list of matches. 

Below is part of a list of matches.
scientific samples for mtDNA
Scientific samples in mtDNA match list

The match list shows the haplogroup, an estimated time to the most recent common ancestor (TMRCA--this is a very broad estimate), the most distant ancestor of the person submitting the DNA sample [this will not be shown for scientific samples], the country of origin if reported, the sample ID, and Private Message link. 

You will not receive any identifying information about your matches. For example, you will not receive an email address, but you will be able to contact anyone in your match list or in your groups, no matter how distant the match is, by using the Private Message (PM) envelope. 

The PM column is listed next to the YFull ID column. You will see an arrow 
next to scientific samples. You will see an envelope
next to individual submissions. 

When you click the PM envelope, you will see something like this:

YFull PM
Send Private Message (PM)

When you click the arrow next to a scientific sample ID, you see much more information. In my own list of matches I clicked the arrow next to KM102073.1. The link takes me to the GenBank record. Below is only a small portion of it.
GenBank record
GenBank entry

To me, the most interesting piece of information is where to find more about the study of this sample. The GenBank record shows that the name of the article in which this sample appeared is "Full mtGenome reference data: Development and characterization of 588 forensic-quality haplotypes representing three U.S. populations." But how do I find this article?

YFull has a list of mitochondrial DNA articles for samples found in their database. Click the name of the article to see an abstract and find how to access the full article: 

scientific samples in YFull database
Scientific study with mtDNA samples in YFull database


Included with the name of the article is a link to Samples. When you click the Samples link on the right of the screen, you will be taken to the list of samples from the study. Here is a portion of them:

mtDNA samples from scientific study
List of YFull mtDNA samples from scientific study


This list includes the YFull ID for the sample, the ID from the scientific article, the country of origin (if reported), a link to the YFull haplogroup where it appears, and specific mutations.

In the sample list above, ID KM102073.1 is on my list of matches. This is from a hispanic sample in the United States.


YFull mtDNA Groups

As with FTDNA, your match list does not let you compare mutations. For that you will need to join a YFull mtDNA group.
So now we get to the best part--YFull mtDNA groups. 

At first, there were no mtDNA groups, so I asked YFull if I could start a group for the U5 mtDNA haplogroup. They agreed. I thought it would be similar to starting the haplogroup project at FTDNA, but it was not remotely similar. First, the administrator of a YFull group can add sequences from scientific samples to the group. It took awhile to enter them because there were so many for haplogroup U5 (I should have started with a subclade of haplogroup U5!) But it was great that from the beginning, even though not a single other person had joined the group, my sample was in the group with more than 1400 scientific samples. I instantly could compare my results with hundreds of others.

The best part of all is that the mtDNA groups are automatically sorted by haplogroup, so it requires no effort from the group administrator, and no results will appear in an ungrouped section.  

How are the results displayed in YFull mtDNA groups?

First, there is no identifying information of any kind, either in the match list or in the mtDNA groups. Your DNA sample will be identified only by your YFull ID number. Next, the Most Distant Ancestor column is not displayed in mtDNA groups. This is because, unlike in Y-DNA groups where men can have the same surname for multiple generations, the surname in a mtDNA group only represents one generation of the ancestry. You can see the name of the most distant ancestor in your match list, but it is not displayed in the mtDNA groups. So, for any close match, compare the ID number in the group results with the ID number on your match list to find information about the most distant ancestor. If there is no information about the most distant maternal ancestor contact the match using the PM envelope.

Here's what you do see in mtDNA groups: The YFull ID, the PM column, the country of origin, the haplogroup, the list of mutations that are on the YFull tree in the approximate order in which they occurred, and the list of mutations that are not yet on the tree (shown to the right in blue). Some mutations are not on the YFull tree because there aren't enough closely matching samples in that subclade to determine the order in which the mutations occurred. For example, the first person on the list below needs many more matches to determine the order of all the mutations that are not yet on the YFull tree.

mtDNA mutations in YFull group
Display of mutations in YFull mtDNA group

The list of mutations is where the results are extremely different from those at FTDNA. In Family Tree DNA's mitochondrial DNA projects, the HVR1 and HVR2 mutations are displayed. There is no comparison of any coding region mutations because of privacy concerns. In YFull mtDNA groups the complete sequence is compared, but only the mutations relevant to the haplogroup are displayed. There are no privacy concerns about any particular mutation because no participants' names or email addresses are displayed in the match lists. There is no way to identify anyone in the YFull database unless the person chooses to reveal identifying information through the Private Messaging system.

At YFull there is a U5 group as well as a U5b1c group. U5b1c is a subclade of haplogroup U5. The list of mutations differs between the two groups because only the mutations that are relevant to the particular haplogroup are shown. The mutations in the U5 group include only those that occurred within haplogroup U5. More ancient mutations are not included. Here is the list of mutations from a scientific sample in the U5 mtDNA group:

U5 mtDNA mutation list
List of mutations in YFull U5 mtDNA group

The same sample shows fewer mutations in the U5b1c group. Mutations that occurred when Haplogroup U5b1c was formed, or before, are not listed. Here we can focus on only the mutations that are relevant to this subclade. 

U5b1c mutations
List of mutations in YFull U5b1c mtDNA group


More information about scientific samples

You can find much more information about scientific samples besides the name of the scientific article. For example, most of the ID numbers end in .1. If you see an ID number like AY519497.2, you may wonder why does it end in ".2"?

Scientific sample revision
YFull Scientific sample ID

Click the arrow, and you will be taken to the GenBank entry.

Scientific sample revision in GenBank
Scientific sample revision

As you can see, the ".2" is a revised version of a sample that was previously named AY519497.1.

Here's another question. Sample DQ489511.1 appears in the U5 group in the subclade U5b2b3, but it is missing mutations that are shared by others within U5b2b3. 
U5b scientific sample
U5b2b3 scientific sample

Click the arrow next to the ID number, and the GenBank entry reveals why this sample is missing some mutations:
Partial mtDNA genome
Partial Genome in GenBank

The test for this sample was only a partial genome.  Perhaps someday it can be upgraded to version ".2"!


Ancestral origins from scientific samples

As I stated earlier, haplogroup U5b used to be associated primarily with Finland. Here is a portion of the U5b1b haplogroup at YFull: 

U5b1b origins
U5b1b origins

I have removed the ID numbers, but you can tell which IDs were from scientific studies and which were submitted by mtDNA testers. The results in the screenshot above show two IDs beginning with YF, and there is an envelope next to those IDs so that you can contact the person by the private messaging system. The other samples are from scientific studies, and you can click the arrow for more information. The origin of all of the above samples is reported as Finland.

Here is a portion of the U5b1c haplogroup. The origins are quite different from the U5b1b samples:

mtDNa origins
U5b1c Origins

Many of the samples from the U5b1c group are close to the Mediterranean Sea. When there are enough matches to my specific subclade, this will help determine the true origins of my mtDNA ancestors.

Comparing mutations in under-tested populations

What about Mary's results? Remember, she had no matches in the M haplogroup project at FTDNA because there are few Chinese samples in its database. The YFull M8 and M8a groups were formed this week. There are now approximately 2000 samples in the M8 group at YFull and 84 samples in the M8a subclade. Since the group is brand new, Mary is the only individual in the group aside from the scientific samples. But even though nobody else has joined the group yet, Mary has 13 matches in her specific M8a2b subclade. She can compare her mutations and maternal origins with these samples. This M8a2b haplogroup designation will be much further refined as more samples join the group and as more scientific studies are completed.

mtDNA haplogroup M8a2b
M8a2b matches at YFull



A THIRD DATABASE: mitoYDNA

An additional database has recently been formed to compare results from mitochondrial DNA tests as well as from Y-DNA tests. This database will replace the YSearch and MitoSearch databases that no longer exist. Many years ago, Family Tree DNA formed the YSearch and MitoSearch databases for people to publicly compare their DNA results. Anybody could submit to these databases, and they contained entries from multiple DNA companies that existed at the time as well as extracted entries from the Sorenson Molecular Genealogy Foundation (SMGF). The YSearch and MitoSearch databases preserved records from companies such as Ancestry.com, GeneTree, and many others who had offered Y-DNA or mtDNA tests and were no longer doing so. They were extremely useful for finding common ancestors. Unfortunately, Family Tree DNA removed these databases because of the EU General Data Protection Regulation (GDPR), and all of the information from the submissions is no longer available. Many companies have removed databases, and this is another reason to get your DNA results into more than one database! 

mitoYDNA was started, and is maintained, by private citizens, so its database should remain. Currently, you may have very few matches in the database, but it's just a matter of time until more people discover the usefulness of mitoYDNA. 

mitoYDNA has some great tools that I will show in a future blog post when more people add their results. In the meantime, submit your results! Instructions appear in the list below.


HOW TO MAKE MATCHES WITH MITOCHONDRIAL DNA

If you want to make great matches with mitochondrial DNA follow all of the steps below.

At Family Tree DNA:

1. If you already have a FTDNA account, click Add ons & Upgrades at the top of the screen. If you have not ordered a mtDNA test, you will click the Add ons tab. If you have ordered HVR1 or HVR2 click the Upgrades tab.
FTDNA test upgrae
Add Ons and Upgrades


2.  Add information about your earliest known maternal ancestor. Hover the mouse over your name, then click Account Settings.
mtDNA account settings
FTDNA Account Settings
 

From the Account Settings page, click Genealogy, then Earliest Known Ancestors. 

Earliest Known maternal ancestor
Provide name, date, and place for earliest known maternal ancestor


Enter the name of your earliest-known direct maternal ancestor (your mother's mother's mother's mother . . .). Even though the field says to enter birth and death dates, it is much better to enter a year of birth and the approximate birth location. This is what will appear on match lists and haplogroup pages. 

Enter a precise location using the location field below the ancestor's name. This is the location that will appear on the Matches Maps discussed above.

3. Review your Privacy Settings. Click the Privacy & Sharing tab. Review all privacy settings, and make sure you have opted into matching.

Update FTDNa account settings
Verify FTDNA account settings


Select your mtDNA match level.

mtDNA matching setting
Select mtDNA match level at FTDNA


4. Add a family tree to your account. FTDNA trees are great for obtaining basic ancestral information, but the trees do not include sources. So, in addition to adding a family tree to their FTDNA account, some people put links to other online trees in the "About Me" section of their profile. To do this, go to Account Settings>Account Information>My Personal Story. 

Many people may not look at your profile, so be sure to add a family tree to your FTDNA account. You can even link DNA matches to your family tree.

Click myTREE at the top of your home screen.
View Family Tree at FTDNA
View your family tree at FTDNA


You will then be given the opportunity to create your tree.

add family tree to FTDNA account
Create your family tree at FTDNA


You can simply create a tree that contains only your maternal line. Start with yourself, then add your parents, then your mother's parents, etc. It is not your best option to include only the maternal line, however, because you will want a more complete family tree for Family Finder results, Y-DNA tests (if you are a male), and any other tests that may be offered in the future. 

If you already have a family tree, click UPLOAD GEDCOM. You can create a GEDCOM file from your genealogy software program or from many online family trees.

For example, you can download your family tree from Ancestry.com and upload it as a GEDCOM to your Family Tree DNA account. To download your tree from Ancestry, log into your Ancestry.com account. Click the name of your tree, then click Tree Settings.

Tree Settings at Ancestry.com
Ancestry.com tree settings


Find the "Manage your tree" section on the right of the next screen, then click Export tree. 
Export Ancestry family tree
Export family tree as GEDCOM file


Ancestry will send you an email verifying that you are the account owner, then you will be able to download the GEDCOM and upload it to your Family Tree DNA account.

5. Join a FTDNA haplogroup project for your mtDNA haplogroup. At the top of the screen, click myPROJECTS, then Join A Project. (You can also find this option on the left side of your home page.)

FTDNA projects
Join a Project


Find the mtDNA Haplogroup Projects, then click the first letter of your mtDNA haplogroup.

mtDNA projects
mtDNA haplogroup projects at FTDNA


Click the name of the project you wish to join.

mtDNA haplogroup project
Select mtDNA haplogroup project


On the next page click Join.

6. Update your Group Project Administrator Access. As you have done before, click on Account Settings, but this time click Project Preferences. Click the pencil icon next to the name of your mtDNA haplogroup. In most cases, it is recommended to give all project administrators limited access.

FTDNA group admin access
Group Project Administrator Access


7. Download your FASTA file. This is the file you will need to submit to YFull. This file can also be used to submit to GenBank.

Click myDNA, mtDNA, then Mutations (or go to the mtDNA section of your home page and click Mutations).
FTDNA mtDNA results
mtDNA results


Go to the bottom of your results, and click FASTA to download the file to your computer.
mtDNA FASTA file
Download FASTA file



At YFull:

1. Go to yfull.com and place your order.  

YFull mtDNA order
Order mtDNA analysis at YFull


Fill out the information, and load your FASTA file on the next screen.

If you have already uploaded Y-DNA results for the same person, you may add mtDNA results at no additional charge. Log into your YFull account, and in the menu on the left click Upload mtDNA. 

Upload mtDNA to your YFull account


Then upload your FASTA file.

2. Enter information about your most distant known maternal ancestor. Click Settings at the upper right of your Home page.

Account settings at YFull
Update account settings

Click Most Distant Ancestor.
Enter Most Distant Ancestor and Place of Origin

Enter her name along with the approximate year and place where she was born. Be as specific as you can. Again, in the screenshot below, the example below the ancestor field shows the name Ann Johnson with dates of birth and death. This is not very helpful. We need a name, date, and PLACE. In the example below, I do not know the county where Elizabeth Clark was born. All I know is that she was born in Pennsylvania.

Most Distant Ancestor information


Next, click Country of Origin. Enter not only the country but also the region, if known. 

Add Country and Region of Maternal Origin


3. Join a mtDNA group if one exists for your haplogroup.

In the menu on the left, scroll down to Groups Mt.
YFull mtDNA Groups

On the next page click the name of the group you wish to join, then click Join request.
Submit Join Request


If there is no mtDNA group for your haplogroup, you can wait for someone to start one (new groups are currently being formed), or you can easily start one yourself. Look at the YFull mtDNA tree, and select a haplogroup that has a manageable number of scientific samples. For example, I would not want to start a group for haplogroup K, but a subgroup could be easily started. Send a message to YFull stating something like, "I would like to start a mtDNA group for haplogroup K1b1c." Your new group will be quickly formed. Then add the scientific samples, and you're ready to go. You will periodically receive an email when a new person wants to join your group. Approve or deny the request (you would deny the request if, for example, someone from a different haplogroup wants to join your group). No other efforts are necessary.


At MitoYDNA:

Mitochondrial DNA results can be entered manually into the database. If you tested at FTDNA, there's an easier way to do so. Install this Chrome extension: mitoYDNA file . Log into your FTDNA account and click on mtDNA Mutations as shown above (when you downloaded your FASTA file) or click Mutations as shown in the screenshot below.
mtDNA mutations at FTDNA


At the top of your list of mutations, click Download mitoYDNA file.

mitoYDNA
Download file to your computer


Go to mitoydna.org and register. Log into our account, and click Kits at the top of the screen.
submit to mitoYDNA
Create new mtDNA kit

Click Create a new kit, then fill out the information on the next page. At the bottom of the screen click Manually Entered to individually enter your mutations or click Choose File to upload the mitoYDNA file from Family Tree DNA.



At GenBank:

Submitting your mtDNA full sequence to GenBank will not help with your family history research. But you may want to consider contributing to science.



Summary

Please complete as many of the steps above as you can. For the best results, do them all. Then after you're finished, contact your mtDNA matches, and encourage them as well. If more people followed the steps above we could be seeing some amazing results in a relatively short time. I look forward to seeing you on my mtDNA match lists!