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To SNP or not to SNP??

Roberta Estes

I received an e-mail the other day from someone who had been asked to take a SNP test by their project administrator.  What they asked me was, “Why would I want to do this and what’s in it for me?”  Seems like a simple enough question, but not exactly.

The quick answers are twofold:

  1. It further defines your haplogroup and…
  2. You can participate in science research.

Unfortunately, this just leads to the next question, “Why do I care?”

So here’s the longer but more accurate answer….and by the way…when you’re done reading this, you’ll understand why it matters, personally, to you.  And you’ll probably want to order a SNP test or two.

I’m going to use the haplogroup E project for an example.  I’m a co-administrator of the project, along with two other individuals, one of which is a population geneticist.  I am very, very grateful for Aaron’s interest in the project.

As project administrators, we feel that it’s our responsibility to group people within the project in a way that is both helpful to them and to scientific research.  Fortunately, these goals do not conflict and are one and the same.

The haplogroup E1b1a, which is the core haplogroup of this project, as opposed to brother haplogroup E1b1b, is defined by a series of SNPs.  Each letter and number after the initial E is defined by a SNP.  So each additional letter or number makes the resulting haplogroup more specific.  More specific means more granular in both geography and time when the haplogroup, and subgroups, were born.

In the haplotree, there was a big split between E1b1a, which is Sub-Saharan African and E1b1b, which is North African/Mediterranean, known colloquially as the Berber haplogroup.  Therefore, two separate projects make sense.

The project is officially known as the E1b1a-M2 project.  M2 is what is known at the “terminal SNP,” meaning the one furthest down the tree that defines E1b1a.

On the haplotree above, you can see the lighter green M2+ SNP that was tested to confirm that this person was indeed in haplogroup E1b1a.  The plus means that they have the SNP.  If they didn’t have this SNP, then they would not be in this subgroup of haplogroup E1b1.

The orange SNPs listed below the E1b1a branch, on the haplotree above, are all of the SNPs available to be tested to see if you are in those haplogroup subgroups.  Want to know which branch is yours?  If so, then now you know why you’d want to test.

Let’s look at the project map to see why you might want to determine a subhaplogroup.

The map below shows the entire E1b1a project with all of the participants.

Do you see all of those people in the Americas?  Well, those are participants who are people of African heritage who very much would like to see their balloon in the African continent, not on the shores of the Americas.  The only way to determine where these people originated in Africa is to do the research that will connect the dots genetically, because we can’t do it via paper records, to where their ancestors lived in Africa.

In order to do this, people need to take SNP tests for specific markers so that their results can be correlated with African groups.  Tests for individual SNPs are only $29 each, so really quite inexpensive for the benefit you, and science, receive.

Aaron, the haplogroup E1b1a geneticist, has divided the participants into groups, and using his expertise, has determined which individual SNPs are the most beneficial.  A Deep Clade test is $139, but generally, Aaron can tell which subgroup people are likely to fall into, so he requests just a SNP or two.  You can test a lot of individual SNPS for $139.  Additionally, sometimes Family Tree DNA makes SNPs available for research testing that are not on the price list yet, and the only way to get these tested is via what is called “boutique testing,” where you order one at a time, through the haplogroup administrator.

When Aaron sees someone who would benefit from this kind of test, he e-mails the person and asks them if they will take the specific SNP test.

Let’s look at an example.

We have a very, very interesting situation where we have a man whose ancestral line is confirmed to be from Austria.  This is highly unusual, as E1b1a is very clearly African and is seldom to never found in Europe ancestrally.  However, this genealogy is well documented.

You can see on the above map that Aaron has grouped a number of people together whose DNA has similar characteristics, meaning groups and values of markers.  He wants all of these people to take specific SNP tests, which you can see on the drop down box as the title of the group.  This is standard practice for haplogroup project administrators.

On the map, you can see where these participants’ oldest ancestors are found. One in Austria, one in Africa and the rest in the Americas who are brick walled.

This map shows project participants.  In order to look at where the research papers place these people ancestrally using genetic information, we need to use a different tool.

We don’t know the African location origins of this particular group of people, which is why these SNP tests are so critically important.  We need to match them in research data bases with other people who have these same SNPs.

Let’s look at the haplogroup origins of someone within a different subgroup of E1b1a who is also brickwalled in the US. Shown below is the Haplgroup Origins chart from their personal page, showing their matches.

You can see that several haplogroup matches, progressively more detailed (E1b1a to E1b1a7 to E1b1a7a3), have origins in Africa.  The more detailed your SNP test, the more detailed your haplogroup, the more detailed and specific your location can and will be, if not today, then eventually.

You can see above that this person, who has only tested to the E1b1a level, matches an E1b1a7a3 individual who is from the Bakola Pygmy tribe in Cameroon.   If this person were to take the SNP tests, they would know if they too are haplogroup E1b1a7a3.  If so, there is a very good possibility they too are a descendant of the Bakola Pygmy tribe in Cameroon. This is extremely powerful information for someone searching for their roots – the Holy Grail of genetic genealogy.  But they will never know if they don’t SNP test, either by individual SNPs ($29 or $39 each) or the Geno 2.0 test ($199).

If you’re lucky, the research on your particular SNP location in Africa has already been done.  But you’re never too late to this party, because as new SNPs are discovered, there are always new opportunities to test.  That’s the ying and the yang of pushing the frontiers of science.

We are REALLY fortunate, because we live in a time where we can be participants in scientific discovery that not only helps us find your our own ancestors, but helps many others who are brick walled with no other hope of finding their ancestral homeland.  This doesn’t just apply to the African haplogroups, but to all haplogroups.  This is exactly how the revolutionary discoveries of the past few months and years that led to the new Geno 2.0 test came about.  One person and one SNP test at a time.

Want to find your ancestors AND make science happen???  SNP test!

This is a companion article to Where is my Haplogroup From?

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