Ask Wilma -- Haplogroup W FAQ

Q: Can someone please answer why some Haplogroup W's matches Haplogroup N's for both HVR1 and HVR2???

A: What haplogroup you belong in is defined by mutations outside of HVR1 and HVR2. Since 2003 FTDNA has used the more certain technique of testing for the defining mutation sequences on the mtdna outside of HVR1 and HVR2. So it is possible to be categorized as an N or W or L or whatever but have the same sequences in HVR1 and HVR2.

The only difference between an N haplogroup motif and a W in HVR1 as per one minimum definition is the 16292T mutation in W. But 5.2% of N* individuals, also have the 16292T mutation. By logic of an HVR1 comparison only, they would be considered a W. And 7.4% of W's lack the 16292T change. By an HVR1 comparison alone they would be considered N's. But both have been classified using a different location outside of HVR1 and HVR2.

Of the 203 combined N* and W haplogroup sequences on mitosearch, there are 2 cases where persons with N and W haplogroups have identical HVR1 and HVR2 sequences. One is HVR1: 16223T, 16519C / HVR2: 073G, 143A, 189G, 192C, 194T, 195C, 196C, 204C, 207A, 263G, 315.1C. The W individual lacks the 16292T mutation that most in the W haplogroup have. But the other changes are common in both groups and the occurrence of one match out of 203 cases is not surprising.

The other case is CRS / No Mutations (e.g. N and W individuals who both have no changes from the Cambridge Reference Sequence). This does seem surprising and may just be persons whose sequences did not upload or were not entered.

A: These tests are mainly to help you (maybe) in genealogy or (certainly) tell you something about your stone-age origins or (possibly) clear up some family mysteries (was there an American Indian or African or European ancestor on the maternal line in a family maybe of a different group). Your haplogroup only categorizes your maternal ancestry on a continental level - e.g. from Africa, Eurasia, East Asia, or the pre-Columbus Americas.

If you have an exact low resolution match with someone else (i.e. in HVR1 only), it means that you have about a 50% chance of sharing a common ancestor within the last 52 generations (about 1300 years). If you have FTDNA calls a high-resolution match (HVR1 and HVR2 tested), that means you have a 50% chance of a common ancestor within the last 28 generations (about 700 years).

Obviously this is a long time, longer than most genealogy trails. However it looks like about at least half a dozen people of the 141 or so who have taken the W mtdna test and uploaded their data to mitosearch with exact matches have been able to identify common ancestors.

Also look at the figures - that is only a 50% chance. You can have an exact match and still have ancestors from India, or Finland, or Italy, or the UK. In fact, 61 of the 167 W haplogroup HVR1 sequences on mitosearch have the basic 16223T, 16292T, 16519C motif. This is unchanged since the first W, 37,900 years ago. The lines of these 'original' W's have had no mutations in HVR1 in the 1500 generations since the W ancestral woman rumbled about Karachi.

In some haplogroups where this a lot of data (like H, the most common), there is enough data that even the scientists have been able to identify regional European differences in motifs (and thereby deduced their theory of a Cro-Magnon 'breakout' from the 'Spanish glacial refuge' after the last Ice Age.

My web page, with a tentative identification of some motifs with certain geographic areas, is just an attempt to do the same for the W's with the very limited information available. Once a lot more information is available (maybe thousands of samples) perhaps these clusters will be proven or invalidated, or others with a geographic location will be identified.

But actually for heritage studies FTDNA and scientists rely more on SNP studies. This tests sequences of the mtdna outside of the HVR1+HVR2 areas to identify unique mutations that correspond to (or rather define) one haplogroup or sub-haplogroup.

But again, a lot more examples will be needed. This is the objective of the genographic project. Unfortunately, I haven't seen where National Geographic is publishing progress reports on how well they are doing in obtaining the 150,000 plus tests they hoped for...

A: Certainly the point of doing the testing is not just the result, but the journey in understanding the result and what other research it motivates you to pursue. I had an exact match with three people. They traced their matrilineal ancestry back to France via Canada. I was encouraged by the result to do some more research on my ancestry. Sure enough I was able to trace my lineage back to Canada about 1800, but lost the trail there (for now).

I am pretty sure it will lead to a link with the same person eventually. But while I haven't 'linked up' with anyone yet for sure, I've met (electronically anyway) a lot of nice 'distant cousins' and learned a lot more about my family history (and prehistory, for that matter!)

Q: When I look at my ancestral origins page, it doesn't list anything, I guess because no-one has similar mutations. How unusual is that?!!

A: This is a good question!

Of the 165 people who have uploaded HVR1 to mitosearch, 38 (23%) are unique - no matches.

Of the 73 people who tested both HVR1 and HVR2, 45 (62%) are unique - no matches.

The most common HVR1 matches, in descending order, are:

# HVR1 Mutations (add 16000 for numbers as given by FTDNA)
61 223T, 292T, 519C (basic W motif)
14 223T, 292T, 362C, 519C
10 192T, 223T, 292T, 325C, 519C
5 209C, 223T, 255A, 292T, 519C
4 223T, 292T, 311C, 519C
4 223T, 292T, 295T, 519C
4 223T, 519C
3 066G, 207G, 223T, 292T, 519C
3 184T, 223T, 292T, 519C
3 145A, 223T, 265G, 519C
3 129A, 192T, 223T, 292T, 325C, 519C
3 223T, 291T, 292T, 519C
2 223T, 292T
2 CRS
2 192T, 223T, 292T, 325C, 362C, 519C
2 177G, 223T, 292T, 362C, 519C
2 093C, 223T, 292T, 519C

The most common HVR1+HVR2 matches, in descending order, are: (add 16000 to HVR1 numbers to get the values as given by FTDNA)

#t HVR1 - HVR2
4 HVR1: 223T, 292T, 519C - HVR2: No Mutations
4 HVR1: 223T, 292T, 519C - HVR2: 073G, 189G, 195C, 204C, 207A, 263G,
309.1C, 315.1C
3 HVR1: 223T, 292T, 519C - HVR2: 073G, 194T, 195C, 199C, 204C, 207A,
263G, 309.1C, 315.1C
3 HVR1: 223T, 292T, 519C - HVR2: 073G, 189G, 194T, 195C, 199C, 204C,
207A, 263G, 309.1C, 315.1C
3 HVR1: 223T, 292T, 519C - HVR2: 073G, 119C, 189G, 195C, 204C, 207A,
263G, 315.1C
3 HVR1: 209C, 223T, 255A, 292T, 519C - HVR2: 073G, 119C, 189G, 195C,
204C, 207A, 263G, 309.1C, 315.1C
2 HVR1: 223T, 519C - HVR2: 073G, 143A, 189G, 192C, 194T, 195C, 196C,
204C, 207A, 263G, 315.1C
2 HVR1: 223T, 292T, 519C - HVR2: 073G, 189G, 194T, 195C, 204C, 207A,
263G, 309.1C, 315.1C
2 HVR1: 192T, 223T, 292T, 325C, 362C, 519C - HVR2: 073G, 189G, 194T,
195C, 204C, 207A, 263G, 309.1C, 315.1C, 524.1C, 524.2A, 524.3C, 524.4A
2 HVR1: 066G, 207G, 223T, 292T, 519C - HVR2: 073G, 189G, 194T, 195C,
199C, 204C, 207A, 263G, 293C, 309.1C, 315.1C

A: W's migrated from the region of northwest Iran throughout Europe before 10,000 years ago. Therefore W's are present in various percentages throughout Europe, and have been since the late stone age. So it is not surprising if someone from India has a low-resolution match with someone from Sicily. If they still have a higher-resolution match, then it might mean some kind of connection in more recent times, but even then not necessarily (see answer above - individual lineages may be unchanged over thousands of generations).

On the other hand, W is almost entirely absent from Arab and north African populations, so a connection related to the Muslim occupation of Sicily would be unlikely (but not impossible - W women, as migrants or slaves, would have been taken into North Africa over the millennia, by the Phoenicians, Carthaginians, Romans, and Arabs).

It's important for everyone to remember that his mtdna stuff is kind of like interpreting the Big Bang based on the pattern of residual background radiation -- it doesn't have much to do with recent events (e.g. modern ethnic/linguistic groups, Neolithic agriculture-bringers-to-Europe). It has been shown (like the various studies of H mtdna in Europe, where they have a much larger statistical database) to have regional variations. But over and over again it has not been shown to correlate (in Europe at least) with any human movements in the last few thousand years -- e.g. no association with Indo Europeans, Celts, Germans, Slavs, or whatever... It's a different story in west Africa, post-1492 Americas, etc where you're talking about wholesale population replacement (Bantu expansion, European colonization) in historical times (last 3000 years).

It is frustrating, but this is all probabilities rather than certainties...

A: Well these regional identifications are really tentative due to the small sample size. Perhaps once more people have added their sequences it will just turn out to be a figment.

Even it if it is valid, you can imagine lots of later possible English/German migrations to Italy - German barbarians in the Roman Army, Gothic invaders, Norman conquerors of Sicily, etc etc.

You can't really put a clock on a single lineage (mother=>daughter=>daughter=>daughter etc etc). See the statistics in the reply above. Of the 165 W people who have uploaded their results to mitosearch, 61 (37%) have the basic 16223T, 16292T, 16519C W motif. That means that their maternal lines are unchanged (at least in the 560 HVR1 letters) by even a single mutation in 1500 generations or so.

The maximum number of mutations to the basic HV1 motif comes from an individual in India with six changes. The maximum in Europe is 4. Statistically the average in the (mainly northwest European) mitosearch sample is only 1.12 +/- 1.13 mutations. But this is just an average.

Take the individual with four additional mutations in HVR1. That probably means that they split off later from an earlier lineage that had three extra mutations, which split off from a lineage that had two extra mutations, that split off from one that had one extra mutation, that split off from the original lineage. So you could say that on that particular lineage there has been one mutation an average of every 5,000 to 6,000 years or so - on the average. But you can't be sure when those four mutations occurred during that time.

Just to give one example, consider a lineage just one letter different in HVR1 from the basic 16223T, 16292T, 16519C W motif. This mutation could have happened in Wilma's daughter, or you could be the first in your lineage with that mutation. You have no way to tell when in the last 37,900 years that mutation happened. It could have been 37,900 years ago, or it could have been when you were born. But on an average of all the lineages with one change, you could say, on the average, 18,950 years ago.

Other lineages only had none, or one, or two, or three changed letters. The number of changes can't tell you anything definite about how old a particular line is. However, on the average, all the lines with four changes would be more ancient than all the lines with one change.

So here we're only talking about the 569 letters in HVR1. When you add the 574 letters in HVR2, the picture changes somewhat. It's like a picture getting more into focus. For example, in the W 'French' group, the HVR1 tree shows only a possible connection with 16209, but there are 16209's that are not from France. When you add HVR2, a 119 mutation now shows a much more definite connection to France, with 16209 being a secondary mutation farther out on the branch. The non-French 16209 HVR1 mutation turns out to be a secondary one out on a different branch, a sort-of Slavic branch.

But HVR1 and HVR2 are only 1,143 of the 16,569 letters on the mtdna. Scientific studies include other areas of the mtdna, and identify other positions where there are mutations that define subhaplogroups (W1, W2, etc). Being a W or W1 or W2 subhaplogroup is defined by these positions that are outside of HVR1 and HVR2. So knowing only our HVR1 and HVR2 sequences we have no exact way of knowing where we fit into the exact final W family tree based on the complete 16,560 letter sequence for all the W's on earth... it's like we're seeing an out-of-focus picture, the outlines, but not the detail.

I know this is maddening for those of us looking for certainty. But it does indeed produce results - in this group around a half dozen of us, even with only 165 tests, have found leads to our heritage. As more and more people are tested, there will be more leads, and even if it isn't helping you now, maybe in a year or two you will make the connection...

A: Using Fluxus Engineering's network software on the 13 HVR1+HVR2 119C sequences, it shows the node to be 13,504 +/- 4,919 years old (assuming one mutation every 9753 years in the combined HVR1+HVR2 region). This is consistent with the post-glacial migration out of the 'ice age refuge' into western Europe...

The particular branch shared by three of the W group (16209C, 16223T, 16255A, 16292T, 16519C, 073G, 119C, 189G, 195C, 204C, 207A, 263G, 309.1C, 315.1C) shows an age of 9753 years +/- 6896 years using the same software and assumption on frequency of mutations. Compare this with the FTDNA assertion that an exact match in HVR1+HVR2 means a common ancestor in an average of 700 years. I don't know how the FTDNA number is calculated - it seems to be based on the observed average mutation rate in the HVR1 and HVR2 regions (=2.9 x 10^-5 mutations/location/generation. Therefore one mutation every 2.9 x 10^-5 x 1143 locations = 1 mutation every 30 generations = ca. every 700 years). I frankly haven't studied and don't know the complex probability and statistical mathematics behind the Fluxus calculation, but the most-recent-common-ancestor date would logically be much less than the when-did-the-lineage-originate date (due to probability calculations, and since lineages die out, populations increased dramatically in the last few centuries, and geneologies converge back in time).