Haplogroups fascinate me because they reveal our deepest ancestry. A haplogroup is a way of assigning a portion of your DNA to a category based on areas of very slowly changing markers. There are two types of DNA that can be assigned haplogroups, because they do not recombine therefore change only slowly via mutations. These are the Y chromosome and the DNA of your mitochondria (mtDNA), which are separate organisms in every cell that provide us with energy and are passed along via a mother’s egg. The groupings for their haplogroups look like family trees when charted, for example the one shown below from Eupedia. That is because each mutation creates a new branch. There are haplogroups assigned for both the all female line (mtDNA) and the all male line (Y). Click here for Eupedia’s wonderful descriptions of all the haplogroups found in Europe.
Men have a Y chromosome, which makes them male, which has been passed from father to son, to his son, to his son, and so forth from from time immemorial. We all have mitochondrial DNA (mtDNA ) which is passed from a mother to all her children unchanged. Thus your mtDNA is from your mother’s mother ‘s mother and so on. Both of those parts of DNA inheritance can be traced back to the dawn of humanity. That is unlike the other chromosomes which mix the inheritance from each parent such that after several generations there may be little or no trace of our deeper ancestors. Most of us have no verifiable autosomal DNA from before our 5th grandparents.
Those of you who have family legends about descent from an Indian princess might be able to prove the connection using mtDNA if there is a direct female line to that ancestor, since there are specific haplogroups for Native Americans (click here for the wikipedia article on that).
One thing that I like to do is figure out the haplogroups of my recent ancestors by testing cousins in the needed line of descent. I made a chart of the ones I know using Paul Hawthorne’s colorful genealogy chart (click here for more about that) with the haplogroups added. As you can see, I have many more lines to chase down. Sadly my Thannhauser Bavarian Jewish line daughtered out, so I am trying to find a male descendant of the one who moved to Albany NY in the mid 1800s.
So how do you find your haplogroup from your DNA test? Well if you tested at 23andme or Living DNA then you will be provided with your high level haplogroup. However if you want to drill down the branches, then test your Y and/or your mtDNA at Family Tree DNA (summer sale until end of August). Ancestry tests enough SNPs to get a high level haplogroup by using other tools on your raw data. My Why Y blog post explains how to use the Morley tool but there is also a tool to find Y haplogroups from Borland Genetics. I have been trying to convince Kevin Borland to write one for mtDNA since the James Lick mthap tool will not currently take ancestry data.
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Father’s day is always an occasion for the DNA testing companies to offer discounts on their kits and this year is no different. Give Dad a DNA kit is the message. Why should you? Well his autosomal DNA might find cousins you had lost track of, discover ethnicity you were curious about, or solve an unknown parent mystery. After all, he is one generation closer to your ancestors. I tested my late father long ago and am grateful to have that information. Click here for my evaluations of the different autosomal testing companies.
Dad and I in about 1953 (he was in the Air Force)
Only men have a Y chromosome and there are tests for just the Y. Those tests can give you information about your surname and your deep father line ancestry. Family Tree DNA is the place to test just the Y although both LivingDNA and 23andme will give you a high level Y haplogroup, plus there are tools to determine the haplogroup from an AncestryDNA or MyHeritage test (discussed at the end of this post).
If you know what a Y haplogroup is you can skip this paragraph … The 23rd pair of chromosomes is an XX for a woman and an XY for a man. The problem or benefit is that there is no second Y for that Y to recombine with. Thus unlike the other 22 chromosomes a man’s parents give him, the Y is unchanged from his Dad’s and his Dad’s and his Dad’s and so on, except for mutations. Those little changes accumulate over thousands of years and allow scientists to catalog the Y and trace the migration of mankind around the globe. Each set of Y mutations is assigned to a haplogroup, and subgroup, which can tell you where your ancestors came from thousands of years back. Here is the latest diagram from the
wikipedia article on Y
Y haplogroup world expansion – start at the big Y in Africa (A was the first haplogroup) -image from wikipedia by Maulucioni [CC BY 3.0 (https://creativecommons.org/licenses/by/3.0)]
If you are of European origin then click here for the Eupedia articles on each haplogroup
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There is a wonderful site at http://www.y-str.org with many good tools for Y DNA and autosomal DNA that run as programs on your PC plus a cool ISOGG Y tree add-on for the Chrome browser. My specific interest at the moment is figuring out which Y SNPs are already tested by 23andme so as not to test them again at FamilyTreeDNA since my Dad has kits at both places. I blogged about how to do that manually back in February, but now there is a program that will do that for you. However it took me a while to figure out how to do what I wanted from the instructions given, so I will do a step-by-step tutorial in this post in order to remember what I did.
First download your raw data from 23andme by going to the “Browse Raw Data” Page which is listed in the menu that appears under your name on the top right. Then on the raw data page click on “Download” in the second top bar on the right hand side. This takes you to a page with various warnings and requires that you reenter your password as well as the answer to your secret question before it starts the download.
Save the download file somewhere that makes sense for you. I have a folder called RawData in the folder DNA that I use. Once the raw data file is downloaded, you will need to unzip it before using it with the various tools. To unzip in windows all you need to do is open a file explorer window (a manila envelope is the icon) and then right click on the file name to get a little menu that includes “extract all” which is the one to click.
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Those of us who are tested at 23andme and have also done the Y STR test at family tree DNA may wonder when some family tree DNA project manager says “Test SNP so and so” whether that SNP is already tested by 23andme. This post explains how to figure that out. If I have already lost you, then this post may just be too technical or else not your cup of tea. To better understand Y testing read this Y lesson by Kelly Wheaton.
For a good explanation of what a STR versus a SNP is, read Roberta Estes’ post – http://dna-explained.com/2014/02/10/strs-vs-snps-multiple-dna-personalities
So to figure out which SNPs my Dad has already tested, I first created the L11 subset image below of the R1b Y haplogroup SNPs from the beautiful diagram created for R1b by Mike Walsh because I need visuals:
Back to the original question. My Dad is an R1b etc and 23andme uses a four year old haplogroup designator rather than the current ISOGG R haplogroup listing. A visitor to this blog suggested that we test DF100 because that is an interesting subclade we may belong to since we have these SNPs according to 23andme: L11/PF6539/S127, L52/PF6541, P310/PF6546/S129, P311/PF6545/S128.
The diagram shows that the possible downstream SNPs for Dad are U106, DF100, and P312. So how to find out if they are tested at 23andme? Since the haplogroup at 23andme shows L52 as the last SNP can I assume the others are tested?
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Dad’s initial 12 marker STR test showed him to be a classic Western Atlantic Modal Haplotype (WAMH) which meant that he had over 6000 matches at family tree DNA. As you can imagine that was not very useful for finding out which of the many Lars Monsens born around 1781 in the Bergen area might be his g-grandfather. So I spent the money to upgrade him to 37 markers to see if we could do better. Now that the results are in for that, there is only one match four steps away whose most distant paternal ancestor is Swedish. I emailed him yesterday and have not yet heard back. There are also about ten 25 marker matches but they all seem to be English in origin so I have not yet emailed them.
Next step is to use the Ysearch site but it times out on my internet via tethered Blackberry so I will wait until next week for that.
Meanwhile I used the SNPs he was tested for to calculate his Y haplogroup using the latest ISOGG chart and it is R1b1a2a1a1 or R1b-L11*
Look at our test results page to read more about that haplogroup including a number of good links.