Nebula Genomics offers "Deep Ancestry" as part of its Whole Genome Sequencing test. Your results for Y-DNA and Mitochondrial Dna (mtDNA) can be transferred to YFull to get these ancestry reports.
Everybody has mitochondria. So in this article we will discuss Mitochondrial DNA.
We will examine what mtDNA is and how it is inherited. Then we will find out how your mtDNA is interpreted and what you can learn about yourself and your ancestors.
I am going to tell you everything you need to know. Nobody has ever gone into this much detail about mitochondrial DNA at YFull, so get ready!
You'll even see that this is more than about deep ancestry. You will also be given tools to find the names of modern ancestors!
What is mitochondrial DNA and how is it inherited?
Your 23 pairs of chromosomes are located in the nucleus of the cell. Most genetic testing focuses on this nuclear DNA.
Mitochondria are organelles found outside the nucleus of the cell. They carry their own DNA.
Mitochondria produce energy for cells. You have more mitochondria in cells that require more energy.
| Human cell with mitochondria |
Mitochondria are inherited from your mother [however, there are known cases where someone has inherited mitochondria from both parents].
Both males and females inherit mitochondrial DNA from their mother, but only females 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 . . . .
| mtDNA inheritance is shown in red Below is a four-generation photo of a great-grandmother, grandmother, mother and her seven children. All of these people inherited the same mitochondrial DNA: |
The seven great-grandchildren are now grown and have children of their own. The boys in the photo did not pass their mitochondrial DNA to their children. The girls did.
However, only one of the four great-granddaughters has a daughter. So only one living descendant can pass this mitochondrial DNA to her children.
This example shows why it is important to preserve your mtDNA for future generations.
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 very 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.
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 a lot about your mitochondrial DNA from YFull's matching system and YFull groups.
How to transfer your mtDNA results to YFull
I showed how to transfer mtDNA results from Family Tree DNA here: How to make matches with Mitochondrial DNA (mtDNA).
If you took a full genome test from Nebula Genomics the full mitochondrial DNA sequence can be extracted from the test and automatically transferred to YFull.
Nebula Genomics describes the following benefits of YFull:
- Find matches based on mtDNA
- mtDNA haplogroup determination
- Identification of all mitochondrial SNPs
- Positioning in MTree
- Regular updates
To submit your mtDNA results from Nebula Genomics, see the Deep Ancestry section:
| Transfer results from Nebula Genomics |
The amazing thing is that if you submit through this screen, you will obtain all of the YFull mitochondrial DNA benefits absolutely free!
MITOCHONDRIAL DNA RESULTS AT YFULL
Determining your results
Over time, mutations have occurred in your mitochondrial DNA.
When your mitochondrial DNA is tested, your results will be compared to a reference sequence. Your report contains the different mutations between you and the reference sequence.
For many years, mtDNA results have been compared to the Cambridge Reference Sequence. This was the first full mitochondrial DNA sequence, and it was completed in 1981. The Cambridge Reference Sequence is referred to as the CRS. A revised version is the rCRS.
Several years later a sequence was compiled to represent "Mitochondrial Eve." This sequence is called the Reconstructed Sapiens Reference Sequence and abbreviated as RSRS.
You will usually see two sets of mitochondrial DNA results: one compared to the rCRS, and one compared to the RSRS.
The mitochondrial DNA tree
Your results will then be compared to other results, and you will be assigned to a haplogroup which is a group of people with similar results.
Your results will be placed on the mitochondrial DNA tree which starts at "Mitochondrial Eve" and branches down to the present day. You will see exactly where you fit in.
"Mitochondrial Eve" was not the first woman who ever lived, nor was she the only woman alive at the time, but she is the only one who has an unbroken line of descendants.
YFull has a tree called the MTree where you can see the current mitochondrial DNA tree with its branching haplogroups.
The very top of this massive tree is shown below. "Mitochondrial Eve" is in haplogroup L. Neanderthals are listed before "Mitochondrial Eve."
| The Root of YFull MTree |
You can see your mtDNA results, learn how you fit into the great mtDNA tree, and even see matches by transferring your results to YFull.
Your mitochondrial DNA results
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:
| MtDNA menu |
OK, right away it looks complicated. Don't worry, we'll examine each of these and see what you can discover.
Haplogroup and SNPs
The first section is Hg [abbreviation for haplogroup] and SNPs [abbreviation for Single Nucleotide Polymorphism]. What do these terms mean?
Hg is an abbreviation for haplogroup. A haplogroup is a group of people with similar results. Mitochondrial DNA results have shown that all people alive today descend from "Mitochondrial Eve." The various haplogroups show the trail from you back to her.
Your results placed you in a haplogroup which is then put on the mitochondrial DNA tree (the MTree shown above.)
A SNP is a type of mutation. A Single Nucleotide Polymorphism is scientific name for a mutation where one value mutates to another.
For example, you may see a mutation like A769G. This means that at mitochondrial position 769 the reference sequence had an A, and you have a G.
In addition to SNPs you may have other types of mutations such as insertions and deletions (called indels).
An indel is not a change from one value to another. It is deleting that position altogether or adding additional ones.
We will see a SNP and an indel in the example below.
Haplogroup and SNP results
When you click on Hg and SNPs you will see a screen similar to the following. Only the first three lines are shown below.
Your mutations
| Haplogroup and SNPs |
Your mutations
Here is a closeup of the SNP and indel information on the right of the screen:
| mtDNA mutation information |
These mutations show how your results differ from the Reference Sequence. They show your mutation and its location in the mitochondria.
For the first mutation on the list, the Reference Sequence has A at position 302. This is called the Ancestral value (Anc.) If these were your results you have ACC which is called the Derived value (Der).
Your mtDNA has two additional mutations (CC) at position 302. These are insertions in your mitochondria, so this is an indel.
In the next row, the Reference Sequence has A at position 15052. Your derived value is G. So the mutation is listed as A15052G. This is a SNP.
Notice at the top of the image that you can download three versions of your results at any time.
You can see several visual representations of any mutation by clicking on the FASTA link next to the mutation.
Here is an example. In the screen below, a mutation from C to T is highlighted. There is another mutation at two positions further.
| FASTA Viewer |
Your haplogroup
Here is a closeup of the left of the screen:
| mtDNA haplogroup |
| Click to go to YFull public mtDNA tree |
Click on it to be taken to your placement in the YFull MTree.
| YFull MTree |
The above screen shows a portion of the public YFull mtDNA tree. It shows the haplogroups and the individual samples within each haplogroup.
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 will see the notation "New" next to samples that have recently been added.
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.
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 because it is quite different from what we saw in haplogroup H1j2a.
| Results from haplogroup HV4 |
Notice that in this case all of the scientific samples have countries of origin.
Next to the country flag you see the name of the country and maybe even a region within the country. Hover your cursor over any abbreviation to see a more full description.
In the above image you also see one ID that is shown in pink [id:MHper207]. This is an ancient sample, and you will see "age" listed next to it.
Hover your cursor over "age" to see more:
| Age of ancient DNA sample |
You can see that this sample is about 950 years old (between 850 and 1050 years before present).
It is shocking to see how much the information has changed.
Here's what it looked like in 2020:
| Some DNA samples in mtDNA haplogroup HV4 |
There are now many new subgroups. In the above example, the sample from Pennsylvania has recently been reassigned to haplogroup HV4e.
The MTree is the only information available to the general public.
Your mtDNA mutations
| MtDNA mutation report |
Use the MReport if you want to see a list of your mutations in one quick screen.
As mentioned above, your results were compared to two reference sequences. Both are shown on the MReport.
Here is an example of a complete list of mutations:
| Mutations on MReport |
The first tab shows your RSRS results. The results are from the three regions of the mitochondria: the hypervariable regions that mutate more frequently (HVR1 and HVR2), and the Coding Region (CR).
The second tab shows your rCRS results.
The third tab, MTree matches, shows how each mutation was matched to other samples to determine your haplogroup.
| MTree Matches |
In the example above the mutation G316A put you within haplogroup H1j2a, and mutation A15052G put you in haplogroup H1j2a1.
The mutation A302ACC is not yet on the MTree.
These haplogroups continue to evolve.
Age estimation
How old is your haplogroup? Click Age estimation.
| Age estimation |
You will now see an approximate age for your nearest haplogroups. These haplogroups and age estimates change as more samples are added to the database.
| YFull age estimation |
The additional tabs are + Known SNPs, + Novels, x Known SNPs, and x Novels. These are the known and novel SNPs that were used to estimate the haplogroup age, and the known and novel SNPs that were not used to calculate the age.
Mitochondrial DNA matches at YFull
| Mt Matches |
Here is where you can start to find our more about the individual people who share your haplogroup.
Below is part of a list of matches.
| List of mitochondrial DNA matches |
The match list shows
- The most recent haplogroups [called the MRCA (Most Recent Common Ancestor) branch]
- 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 of the person who took the test
- 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 a link symbol
next to scientific samples.
You will see an envelope
next to individual samples.
In the above list of matches, the first match is from an individual submitter. We know this because the sample begins with YF.
Unfortunately, this person did not include any information about the maternal origins. You can click the PM envelope to contact this person.
When you click the PM envelope, you will see something like this:
| Send Private Message (PM) |
Again, in the above match list, the scientific samples both have countries of origin, and one of them is from an ancient sample.
An ancient sample sounds fascinating. If you click the link next to the scientific sample ID MF498722.1, it takes you to the GenBank record. Below is the first part of it.
| GenBank record |
To me, the most interesting piece of information is where to find more about the study of this sample.
The GenBank record shows the name of the article in which this sample appeared: "Female exogamy and gene pool diversification at the transition from the Final Neolithic to the Early Bronze Age in central Europe."
How do you find this article?
YFull has a list of mitochondrial DNA articles for samples found in their database. Enter the sample ID into the YFull Paper Search.
The link to the article will appear below the search box.
| YFull Paper Search |
Click the name of the article to see an abstract and find how to access the full Article.
| Scientific article |
In the YFull Paper Search, you not only see the name of the article, but there is also a link to the samples.
Here is a partial list of the samples:
| List of YFull samples from scientific study |
Notice that the scientific study did not list the location of all samples, but it did for sample MF498722.1.
Although the mitochondrial DNA match list gives the country of origin as Germany, this list tells us more specific information. The sample came from the region of Bavaria.
Let's look at the Mt matches for another sample.
| Mt matches |
Here is the partial list of matches for another person:
| mtDNA match list |
In this case the first line is from an individual submitter. This person entered information about the most distant ancestor in the maternal line.
Two scientific samples have countries of origin, and one does not.
YFull mtDNA Groups
Your match list does not let you c
