Try as I might, I’ve never been able to find a second DNA tester to discern my paternal grandmother, Ollie Bolton’s mitochondrial DNA haplogroup.
Why do I need a second person tested, you might wonder?
My aunt Minnie, my father’s sister, tested back in 2004 when full sequence mitochondrial DNA testing was not yet available. She had been estimated to be haplogroup H at that time, based only on the HVR1 region.
Minnie was 96 at that time and passed away just 8 months shy of her 100th birthday. Yes, this family seems to have a longevity gene. Minnie’s sister died at 99 and her father, William George Estes, at age 98. Her great-great grandfather, John R. Estes at 98 and his father, George, at 96. Now, if I could just figure out which gene it is that confers longevity, maybe I could figure out if I have it and more effectively plan the rest of my life😊
Later, when I ordered an upgrade to the Full Mitochondrial Sequence, my aunt’s DNA was no longer viable.
Ever since, I’ve been trying to find someone, anyone, descended appropriately from this line to do a full sequence mitochondrial DNA test – without luck.
A few days ago, I received a notification from Family Tree DNA that my aunt has another HVR1 match. Normally, I don’t even bother to look anymore, but for some reason, I did that day.
What I saw amazed me, for two reasons.
First, apparently her originally estimated haplogroup H was incorrect and has since been updated. She is now haplogroup J. This happened during the upgrade to mitochondrial version 17 where many new haplogroups were introduced, including J1c1e, shown repeatedly on her match list above.
It’s very difficult to estimate a haplogroup based on just HVR1 mutations. As it turns out, haplogourp defining location T16368C is also found in haplogroup H3x. My aunt has additional mutations that aren’t haplogroup defining, but that do match people in haplogroup J1c1e, but not H3x.
Second, Minnie matches a total of 72 people at the HVR1 level. Many haven’t tested beyond that level, but a good number have taken the full sequence test. Based on the fact that she matches the following people with full sequence haplogroups, I’d say she is very probably a haplogroup J1c1e, based on this alone:
- Haplogroup J1c1e – 28
- Haplogroup J1c3b -1
Haplogroup “J only” matches don’t count, because they did not test at the full sequence level.
What’s the Difference?
This begs the question of the difference between haplogroup J1c1e and J1c3b. These two haplogroups have the same haplogroup defining mutations through the J1c portion, but the 1e and 3b portions of the haplogroup names signal different branches.
In the chart below, J1c1e and J1c3b both have all of the mutations listed for J1c, plus the additional mutations listed for their own individual branches.
| Haplogroup | HVR1 | HVR2 | Coding Region |
| J1c | C16069T, | C295T, T489C, C462T, | A10398G!, A12612G, G13708A, G3010A, T14798C |
| J1c1e | T16368C | T10454C | T482C, T3394C |
| J1c3b | C13934T, C15367T |
There’s a hidden gem here.
Since haplogroup J1c1e includes a haplogroup defining mutation in the HVR1 region, and haplogroup J1c3b does not, we can easily check my aunt’s results to see if she carries the mutation at location T16368C.
Look, she does.
Furthermore, the only other subgroup of haplogroup J that my aunt matches that includes this mutation is haplogroup J1c2m1 which also carried a mutation at A16235G, which she does not have. This eliminates the possibility that she is haplogroup J1c2m1.
Given the information we do have, and given that it’s extremely unlikely that I’ll ever find a tester, I’m good with inferring that Ollie Bolton’s haplogroup is J1c1e.
J1c1e
What can we learn about the origins of haplogroup J1c1e?
My aunt’s matches map shows the following European cluster.
The top 3 matches have taken the full sequence test.
The pattern is quite interesting. Looks like someone crossed the English Channel at some point in time, probably hundreds to thousands of years ago.
The haplogroup J project at Family Tree DNA has not yet been regrouped since the conversion to mitochondrial V17, so the J1c1e individuals are included in the J1c1 group.
Of course J1c1 is the mother haplogroup of haplogroup J1c1e, so the map above shows the distribution of people who are haplogroup J1c1. There are other subgroups of J1c1 that have their own map and would be included in this map if they didn’t have their own subgroup. I’m sure haplogroup J1c1e will have its own group as soon as the admins readjust people’s groupings based on the new haplogroup divisions.
According to the paper, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, by Behar et al, published in 2012, the age of the birth of haplogroup J1c1 is approximately 10,090 years ago, with a standard deviation of 2228 years, so a range of 7863-12319 years ago.
Of course, haplogroup J1c1e was born some time later. Unfortunately, the mitochondrial tree aging has not been updated to incorporate the new information included in the V17 migration which includes the definition of haplogroup J1c1e.
Where was haplogroup J1c1 born 7863-12319 years ago? Probably the Middle East, but we really don’t know positively.
Not Just Ollie’s Haplogroup
The great thing about mitochondrial (and Y DNA) testing is that it’s not just the haplogroup of the person who tested. For mitochondrial DNA, it’s the haplogroup of their mother and their mother on up the mother’s direct matrilineal line.
In Ollie’s case, all of these people carry haplogroup J1c1e. It descended to Ollie, and then to all of her children, including her son. Only her female children passed it on.
- William Sterling Estes – my father
- Ollie Bolton
- Margaret Claxton/Clarkson
- Elizabeth Speaks
- Ann McKee
- Elizabeth, wife of Andrew McKee
Summary
It’s amazing what we can learn from a mitochondrial DNA match – and in this case, someone who only had the HVR1 region tested. Minnie was fortunate to have a haplogroup defining mutation in the HVR1 region along with other mutations that match J1c1e individuals. Luck of the genetic draw.
Some of those additional mutations may also be haplogroup defining in the future.
I never thought I’d unearth this information about my grandmother, Ollie Bolton, especially since I only started out with a shred of information. I’m so glad I checked one last time.
Never give up.
Never stop checking!
Note to self: Patience is a virtue! Probably even a more critical virtue if you also inherited that longevity gene.
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I’ve found mt DNA results to be hard to use. I suggested to FTDNA that they use a pattern matching algorithm. Everyone would enter the surname of their maternal grandmother, then her mother, then hers, etc for as many generations as were fairly certain. Then an algorithm would look for patterns in surnames among people with 0 or 1 differences in their mt DNA. Do you think this might be useful?
I would like tree matching!
Great idea. I wish I could use Family Finder to search for specific mtDNA or Y-DNA haplogroup like I can search on a name.
Great detective work!
May I ask you a question? How common is the J1c mtDNA haplogroup among Ashkenazi Jews? In your map, I see a few matches in NE Europe. You see, one of my cousins had his mtDNA tested as J1c at National Geographic. I’m related to him through my uncle but not through my aunt. Her ancestors came from Lithuania.
Hi Roberta, I am also J1C1e. As a life long genealogist I do have my maternal line back to Mary Clewit who married William Davies 31 Dec 1742 in Worfield, Shropshire, England. Is there any chance you have traced your Ollie Bolton’s maternal ancestors into that area. (close to the Welsh Border)
Jane Kuitems >
I wish I had her back that far. I’m stuck in Washington County, Virginia! Maybe someday!
Roberta has a screenshot of her aunt’s matches, do you have the same matches? Remember she edited part of the names of the testers, but the last known ancestress should be the same.
I you do… Her last ancestress she made a blog entry about in this line is Ann McKee born in 1804 or 1805. Your own last known ancestress was married in 1742, so if her first daughter married early it would be in 1862, then her first grand-daughter would marry in 1882 and her great-grand-daughter should marry about the years Ann McKee was born.
So we could expect Ann’s mother, Elizabeth, to be Mary Clewit’s grand-daughter at the fartest and her daughter at the closest. Do you know Mary Clewit daughters? Any Elizabeth among the last child? Any Elizabeth among the first grand-daughters?
I’m interested in doing the mtDna but several people told me it isn’t worth it because it only follows the maternal line and since i have a person who only had one child a male and he only had one child, I wouldn’t have anyone else to do dna to match or confirm my results. Is that true?
It does only show the matrilineal line – but you don’t know what you don’t know. There’s lots to learn.
Roberta, I am so glad you have had some luck with mtDA, because I have had none. I only have 3 matches for coding regions,1 at 1 and 2 at 2 markers difference, and these are all men; however I realize that it is their mother’s DNA. I do have 1,000 matches at HVRl, and only 4 (one is included in the 3 matches above) for HVR1 and HVR2. Do you think this is typical? Hopefully, I will get more matches as more people are being tested. My husband tested for the full sequence, also, for mtDNA, and he has many matches.
Some people just have very rare DNA. I do see this relatively frequently when I do the DNA Reports for people.
How common are heteroplasmies in the coding regions for mtDNA?
I see them fairly regularly.
I have two heteroplasmies in the coding region of my mtDNA, so I’m 2 genetic distances from my matches. At the HVR1 and HVR2 levels, I have exact matches
Roberta – Thanks again for such an interesting blog – love it! You can find a factoid test for the longevity gene at this web address: http://www.y-str.org/p/factoids.html .
Only 72 matches at HVR1 level? Let me see… I have between 500 and 1000 for my own…
The same for my paternal grand-mother.
I would push my luck one step further and contact a few of these full sequence mt-matches.who they match on HVR2 and FMS level. You should be able to cluster them into a few groups. Then see which branch where in America back to Elizabeth (?) McKee’s days. Of these branches, you get as far back as you can, then try to follow the daughters forwards to Elizabeth.
If your luck is still with you, you’ll find an Elizabeth which disappear at some point. Maybe moving away from home with her family as her father sell land. Or even better, one who was born and lived close to Andrew McKee all along.
I did this exercise with my own mt-lines, I managed to place one of my match’s ancestress into the tree, and I’m working on two others which are more complicated to link.
Nice work, Roberta, I wish I had your knowledge. My mtDNA is V17. I’ve received a whopping four full matches over the last three years, two at a distance of 2, the others a distance of 3. I have 21 matches at the HVR1 level, and zero at the HVR1-HVR2 level. They tell me that the highest concentration of V is with the Saami in Finland, and with the Catalunya region of Spain.
Even with such low numbers, I’m happy that I had the test done. I know roughly where my clan originated, sometime around 13,000 years ago. That’s more info than I had before testing. And it expanded my education, you know I had to research the Saami, a people I had no idea existed before. They are quite interesting.
Yes. They are fascinating. And you would never have known otherwise. I always tell people – you don’t know what you don’t know.
Agree. I’m so glad I took the full sequence mtDNA test!
Sorry to post here but all my e-mails are returned as connection refused Following up on order with a Item #295 June 9, 1015. tried your e-mail associated with consulting.
Rose, I just e-mailed you. See if you can reply to that one. If not, please post again here to tell me if you can’t reply. I have enclosed an alternate e-mail address in the e-mail I just sent to you. I apologize for the inconvenience. Odd that a legitimate e-mail is being refused when I receive hundreds of spammy ones:(
You guys are great!!
Quick question—which test would you recommend to determine if someone is a half aunt. The daughter of my fathers father. Both my father and grandfather are deceased.
Thank you—
Margaret
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The Family Finder test, at this link. You’ll need one of course for both people. http://www.kqzyfj.com/click-6754800-13710356
Another interesting article. I’m new to DNA testing and struggle to understand it, but you make it clearer. I’m in the x2b-t226c mtdna group, and was able to put one of my matches on my tree, with the common ancestor being my gggg-grandmother. DNA is fascinating!
Hi. I just got back my J1c1 mtDNA haplogroup from 23andMe. I was hoping to find a testing site that goes deeper (Am I J1c1e, or what??) but was advised that such services as National Geographic’s Geno 2.0 would be of little assistance in finding the subgroup. I would appreciate your advice. Thank you.
The only company that tests the entire mitochondria, which means you can obtain your full subgroup is Family Tree DNA. If you order, you want the mtFULL, and it’s on sale now. Here’s a link: http://www.kqzyfj.com/click-6754800-13710356
Agree with Roberta. One of my cousins tested his mtDNA through National Geographic and came out as J1c, which is less detailed than what you got with 23 and me.
My question might be out of place. Suppose a woman gets pregnant through IVT with a donor egg. Would her child have his birth mother’s mtDNA or the egg donor’s mtDNA? This is a real life scenario.
The egg donors.
Regarding the Earliest Known Ancestors listed by the participants, how do we know that the name of the ancestor is proven?
You would need to contact the tester.