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.
|J1c||C16069T,||C295T, T489C, C462T,||A10398G!, A12612G, G13708A, G3010A, T14798C|
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.
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
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.